[ { "query_id": "orph_dev_00000", "question": "What is associated with Short 4th finger?", "seeds": [ "Short 4th finger" ], "gold_answer": "Aplasia/Hypoplasia of fingers", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00001", "question": "What phenotype is associated with Waardenburg syndrome, type 4B?", "seeds": [ "Waardenburg syndrome, type 4B" ], "gold_answer": "Hypopigmented skin patches", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00002", "question": "What is associated with Polydactyly affecting the 2nd toe?", "seeds": [ "Polydactyly affecting the 2nd toe" ], "gold_answer": "Mesoaxial polydactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00003", "question": "What is associated with Neck teratoma?", "seeds": [ "Neck teratoma" ], "gold_answer": "Neoplasm by histology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00004", "question": "What is associated with Sub-lamina densa cleavage?", "seeds": [ "Sub-lamina densa cleavage" ], "gold_answer": "Abnormal blistering of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00005", "question": "What is associated with Curved proximal phalanx of the 2nd finger?", "seeds": [ "Curved proximal phalanx of the 2nd finger" ], "gold_answer": "Abnormality of the phalanges of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00006", "question": "What phenotype is associated with Ring chromosome 13 syndrome?", "seeds": [ "Ring chromosome 13 syndrome" ], "gold_answer": "Anal atresia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00007", "question": "What is associated with Exostoses?", "seeds": [ "Exostoses" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00008", "question": "What phenotype is associated with Immunodeficiency 105, severe combined?", "seeds": [ "Immunodeficiency 105, severe combined" ], "gold_answer": "Reduced total natural killer cell count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00009", "question": "What is associated with Eisenmenger syndrome?", "seeds": [ "Eisenmenger syndrome" ], "gold_answer": "GATA6", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_dev_00010", "question": "What is associated with Intellectual developmental disorder, X-linked 107?", "seeds": [ "Intellectual developmental disorder, X-linked 107" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00011", "question": "What is associated with Ectodermal dysplasia?", "seeds": [ "Ectodermal dysplasia" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00012", "question": "What phenotype is associated with Deafness, unilateral, with delayed endolymphatic hydrops?", "seeds": [ "Deafness, unilateral, with delayed endolymphatic hydrops" ], "gold_answer": "Edema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00013", "question": "What phenotype is associated with Epileptic encephalopathy, early infantile, 49?", "seeds": [ "Epileptic encephalopathy, early infantile, 49" ], "gold_answer": "Thick eyebrow", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00014", "question": "What phenotype is associated with Radioulnar synostosis-developmental delay-hypotonia syndrome?", "seeds": [ "Radioulnar synostosis-developmental delay-hypotonia syndrome" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00015", "question": "What is associated with Crane-Heise syndrome?", "seeds": [ "Crane-Heise syndrome" ], "gold_answer": "Abnormal mandible morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00016", "question": "What is associated with Ectopic pancreatic tissue?", "seeds": [ "Ectopic pancreatic tissue" ], "gold_answer": "Abnormality of the abdominal organs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00017", "question": "What is associated with 15q11q13 microduplication syndrome?", "seeds": [ "15q11q13 microduplication syndrome" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00018", "question": "What is associated with Moderate hypermetropia?", "seeds": [ "Moderate hypermetropia" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00019", "question": "What is associated with Corneal dystrophy, posterior polymorphous, 2?", "seeds": [ "Corneal dystrophy, posterior polymorphous, 2" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00020", "question": "What is associated with Papulovesicular eruption?", "seeds": [ "Papulovesicular eruption" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00021", "question": "What is associated with Antalgic gait?", "seeds": [ "Antalgic gait" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00022", "question": "What is associated with Salty tasting skin?", "seeds": [ "Salty tasting skin" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00023", "question": "What is associated with Epileptic encephalopathy, early infantile, 64?", "seeds": [ "Epileptic encephalopathy, early infantile, 64" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00024", "question": "What is associated with Emphysema?", "seeds": [ "Emphysema" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00025", "question": "What is associated with Gordon reflex?", "seeds": [ "Gordon reflex" ], "gold_answer": "Abnormal spinal cord physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00026", "question": "What is associated with Peripapillary exudate?", "seeds": [ "Peripapillary exudate" ], "gold_answer": "Retinal exudate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00027", "question": "What is associated with Pilarowski-Bjornsson syndrome?", "seeds": [ "Pilarowski-Bjornsson syndrome" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00028", "question": "What is associated with Arcuate vein intimal/medial myxomatous degeneration?", "seeds": [ "Arcuate vein intimal/medial myxomatous degeneration" ], "gold_answer": "Abnormal arcuate vein morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00029", "question": "What is associated with Bifid tongue?", "seeds": [ "Bifid tongue" ], "gold_answer": "Abnormality of the mouth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00030", "question": "What is associated with Patella alta?", "seeds": [ "Patella alta" ], "gold_answer": "Abnormal patella morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00031", "question": "What is associated with Joint hypermobility?", "seeds": [ "Joint hypermobility" ], "gold_answer": "Abnormal musculoskeletal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00032", "question": "What is associated with Abnormal autonomic nervous system morphology?", "seeds": [ "Abnormal autonomic nervous system morphology" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00033", "question": "What is associated with Mycobacterial and viral infections, susceptibility to, autosomal recessive?", "seeds": [ "Mycobacterial and viral infections, susceptibility to, autosomal recessive" ], "gold_answer": "Viral encephalitis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00034", "question": "What phenotype is associated with Multicentric carpotarsal osteolysis syndrome?", "seeds": [ "Multicentric carpotarsal osteolysis syndrome" ], "gold_answer": "Hypoplasia of the maxilla", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00035", "question": "What is associated with Decreased fertility in females?", "seeds": [ "Decreased fertility in females" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00036", "question": "What phenotype is associated with Muscular dystrophy, limb-girdle, type 2B?", "seeds": [ "Muscular dystrophy, limb-girdle, type 2B" ], "gold_answer": "Loss of ambulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00037", "question": "What is associated with Broad middle phalanx of the 5th finger?", "seeds": [ "Broad middle phalanx of the 5th finger" ], "gold_answer": "Abnormality of the middle phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00038", "question": "What is associated with Megacystis?", "seeds": [ "Megacystis" ], "gold_answer": "Abnormal bladder morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00039", "question": "What is associated with Congenital diaphragmatic hernia?", "seeds": [ "Congenital diaphragmatic hernia" ], "gold_answer": "Abnormal lung development", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00040", "question": "What is associated with Abnormal calvaria morphology?", "seeds": [ "Abnormal calvaria morphology" ], "gold_answer": "Abnormality of head or neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00041", "question": "What is associated with Pseudohypoparathyroidism type 2?", "seeds": [ "Pseudohypoparathyroidism type 2" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00042", "question": "What is associated with Hyperglutamatemia?", "seeds": [ "Hyperglutamatemia" ], "gold_answer": "Abnormal circulating glutamate concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00043", "question": "What is associated with Intellectual developmental disorder and retinitis pigmentosa?", "seeds": [ "Intellectual developmental disorder and retinitis pigmentosa" ], "gold_answer": "Subcapsular cataract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00044", "question": "What is associated with Oxygen desaturation on exertion?", "seeds": [ "Oxygen desaturation on exertion" ], "gold_answer": "Hypoxemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00045", "question": "What phenotype is associated with Myopia-3?", "seeds": [ "Myopia-3" ], "gold_answer": "Retinal detachment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00046", "question": "What is associated with Macular scar?", "seeds": [ "Macular scar" ], "gold_answer": "Scarring", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00047", "question": "What phenotype is associated with Dermatopathia pigmentosa reticularis?", "seeds": [ "Dermatopathia pigmentosa reticularis" ], "gold_answer": "Hypohidrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00048", "question": "What is associated with Double first metacarpals?", "seeds": [ "Double first metacarpals" ], "gold_answer": "Supernumerary metacarpal bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00049", "question": "What is associated with Fanconi renotubular syndrome 5?", "seeds": [ "Fanconi renotubular syndrome 5" ], "gold_answer": "Non-small cell lung carcinoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00050", "question": "What is associated with Abnormal galactosidase enyzme activity?", "seeds": [ "Abnormal galactosidase enyzme activity" ], "gold_answer": "Abnormal glycosidase enzyme activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00051", "question": "What is associated with Ichthyosis hystrix, Curth-Macklin type?", "seeds": [ "Ichthyosis hystrix, Curth-Macklin type" ], "gold_answer": "Regional abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00052", "question": "What is associated with Lower extremity hypokinesia?", "seeds": [ "Lower extremity hypokinesia" ], "gold_answer": "Diminished movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00053", "question": "What is associated with Broad uvula?", "seeds": [ "Broad uvula" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00054", "question": "What is associated with Thickened cortex of long bones?", "seeds": [ "Thickened cortex of long bones" ], "gold_answer": "Abnormal bone structure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00055", "question": "What is associated with Hepatic agenesis?", "seeds": [ "Hepatic agenesis" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00056", "question": "What is associated with Status epilepticus with ictal paresis?", "seeds": [ "Status epilepticus with ictal paresis" ], "gold_answer": "Focal motor status epilepticus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00057", "question": "What is associated with ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement?", "seeds": [ "ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement" ], "gold_answer": "ITPA", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_00058", "question": "What is associated with Decreased serum bicarbonate concentration?", "seeds": [ "Decreased serum bicarbonate concentration" ], "gold_answer": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00059", "question": "What is associated with Metatarsal fracture?", "seeds": [ "Metatarsal fracture" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00060", "question": "What is associated with Partial duplication of the proximal phalanx of the 2nd toe?", "seeds": [ "Partial duplication of the proximal phalanx of the 2nd toe" ], "gold_answer": "Duplication of the proximal phalanx of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00061", "question": "What is associated with Broad middle phalanx of the 4th toe?", "seeds": [ "Broad middle phalanx of the 4th toe" ], "gold_answer": "Abnormality of the middle phalanx of the 4th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00062", "question": "What is associated with Abnormal visual accommodation?", "seeds": [ "Abnormal visual accommodation" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00063", "question": "What is associated with Skin nodule?", "seeds": [ "Skin nodule" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00064", "question": "What is associated with Perineal hemangioma?", "seeds": [ "Perineal hemangioma" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00065", "question": "What is associated with Neonatal hyperbilirubinemia?", "seeds": [ "Neonatal hyperbilirubinemia" ], "gold_answer": "Hyperbilirubinemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00066", "question": "What is associated with Myasthenic syndrome, congenital, 21, presynaptic?", "seeds": [ "Myasthenic syndrome, congenital, 21, presynaptic" ], "gold_answer": "Abnormal pattern of respiration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00067", "question": "What is associated with Decreased amyloid beta 42 peptide CSF concentration?", "seeds": [ "Decreased amyloid beta 42 peptide CSF concentration" ], "gold_answer": "Abnormal amyloid beta 42 peptide CSF concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00068", "question": "What is associated with Unique green phenomenon?", "seeds": [ "Unique green phenomenon" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00069", "question": "What is associated with Stippling of the epiphysis of the proximal phalanx of the 2nd toe?", "seeds": [ "Stippling of the epiphysis of the proximal phalanx of the 2nd toe" ], "gold_answer": "Stippling of the epiphyses of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00070", "question": "What is associated with Pinhole visual acuity 0.4 LogMAR?", "seeds": [ "Pinhole visual acuity 0.4 LogMAR" ], "gold_answer": "Visual acuity test abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00071", "question": "What is associated with Reduced tissue mannosyl-oligosaccharide glucosidase activity?", "seeds": [ "Reduced tissue mannosyl-oligosaccharide glucosidase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00072", "question": "What is associated with Pituitary gland cyst?", "seeds": [ "Pituitary gland cyst" ], "gold_answer": "Intracranial cystic lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00073", "question": "What is associated with Aspergillosis?", "seeds": [ "Aspergillosis" ], "gold_answer": "Airway obstruction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00074", "question": "What is associated with Ear pits, posterior helical?", "seeds": [ "Ear pits, posterior helical" ], "gold_answer": "Abnormal helix morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00075", "question": "What is associated with Charcot-Marie-Tooth disease type 4E?", "seeds": [ "Charcot-Marie-Tooth disease type 4E" ], "gold_answer": "EGR2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_00076", "question": "What is associated with Renal potassium wasting?", "seeds": [ "Renal potassium wasting" ], "gold_answer": "Abnormal urinary electrolyte concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00077", "question": "What is associated with Distal arthrogryposis type 1?", "seeds": [ "Distal arthrogryposis type 1" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00078", "question": "What phenotype is associated with Developmental delay with variable neurologic and brain abnormalities?", "seeds": [ "Developmental delay with variable neurologic and brain abnormalities" ], "gold_answer": "Alternating esotropia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00079", "question": "What phenotype is associated with Orofacial cleft 13?", "seeds": [ "Orofacial cleft 13" ], "gold_answer": "Orofacial cleft", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00080", "question": "What is associated with Monorchism?", "seeds": [ "Monorchism" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00081", "question": "What is associated with Cleft ala nasi?", "seeds": [ "Cleft ala nasi" ], "gold_answer": "Abnormal external nose morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00082", "question": "What is associated with Subcortical white matter calcifications?", "seeds": [ "Subcortical white matter calcifications" ], "gold_answer": "Abnormal cerebral white matter morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00083", "question": "What is associated with Adenoma sebaceum?", "seeds": [ "Adenoma sebaceum" ], "gold_answer": "Fibrous tissue neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00084", "question": "What is associated with Pituitary growth hormone cell adenoma?", "seeds": [ "Pituitary growth hormone cell adenoma" ], "gold_answer": "Neoplasm of the pituitary gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00085", "question": "What is associated with Typified by moderate penetrance?", "seeds": [ "Typified by moderate penetrance" ], "gold_answer": "Typified by incomplete penetrance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00086", "question": "What phenotype is associated with Dystonia 27?", "seeds": [ "Dystonia 27" ], "gold_answer": "Postural tremor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00087", "question": "What is associated with Cavitary optic disc anomalies?", "seeds": [ "Cavitary optic disc anomalies" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00088", "question": "What is associated with Hepatic arteriovenous malformation?", "seeds": [ "Hepatic arteriovenous malformation" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00089", "question": "What is associated with Splenic xanthomatosis?", "seeds": [ "Splenic xanthomatosis" ], "gold_answer": "Abnormality of the spleen", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00090", "question": "What is associated with EOSINOPHILOPENIA?", "seeds": [ "EOSINOPHILOPENIA" ], "gold_answer": "Allergy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00091", "question": "What is associated with Decrease in high molecular weight von Willebrand factor Multimers?", "seeds": [ "Decrease in high molecular weight von Willebrand factor Multimers" ], "gold_answer": "Abnormality of the coagulation cascade", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00092", "question": "What is associated with Abnormal enteric neuron morphology?", "seeds": [ "Abnormal enteric neuron morphology" ], "gold_answer": "Abnormal autonomic nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00093", "question": "What is associated with Diabetes mellitus, permanent neonatal 1?", "seeds": [ "Diabetes mellitus, permanent neonatal 1" ], "gold_answer": "Decreased body weight", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00094", "question": "What is associated with Sjogren syndrome?", "seeds": [ "Sjogren syndrome" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00095", "question": "What is associated with Dentin dysplasia type II?", "seeds": [ "Dentin dysplasia type II" ], "gold_answer": "DSPP", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_00096", "question": "What phenotype is associated with Chromosome 2q31.1 duplication syndrome?", "seeds": [ "Chromosome 2q31.1 duplication syndrome" ], "gold_answer": "3-4 finger cutaneous syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00097", "question": "What is associated with Chronic metabolic acidosis?", "seeds": [ "Chronic metabolic acidosis" ], "gold_answer": "Metabolic acidosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00098", "question": "What is associated with Anti-Homer-3 antibody?", "seeds": [ "Anti-Homer-3 antibody" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00099", "question": "What is associated with Blepharochalasis and double lip?", "seeds": [ "Blepharochalasis and double lip" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00100", "question": "What is associated with Renal intratubular casts?", "seeds": [ "Renal intratubular casts" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00101", "question": "What phenotype is associated with Homocystinuria, B6-responsive and nonresponsive types?", "seeds": [ "Homocystinuria, B6-responsive and nonresponsive types" ], "gold_answer": "Flushing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00102", "question": "What phenotype is associated with Kleine-Levin hibernation syndrome?", "seeds": [ "Kleine-Levin hibernation syndrome" ], "gold_answer": "Confusion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00103", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal dominant 1?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 1" ], "gold_answer": "Panhypopituitarism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00104", "question": "What is associated with Patchy sclerosis of the distal phalanx of the 3rd toe?", "seeds": [ "Patchy sclerosis of the distal phalanx of the 3rd toe" ], "gold_answer": "Sclerosis of the distal phalanx of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00105", "question": "What is associated with Charcot-Marie-Tooth neuropathy, X-linked dominant, 1?", "seeds": [ "Charcot-Marie-Tooth neuropathy, X-linked dominant, 1" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00106", "question": "What is associated with Rickets, vitamin D-resistant, type IIA?", "seeds": [ "Rickets, vitamin D-resistant, type IIA" ], "gold_answer": "Abnormality of cranial sutures", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00107", "question": "What is associated with Corneal dystrophy, Reis-Bucklers type?", "seeds": [ "Corneal dystrophy, Reis-Bucklers type" ], "gold_answer": "Facial edema", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00108", "question": "What is associated with Unilateral ulnar hypoplasia?", "seeds": [ "Unilateral ulnar hypoplasia" ], "gold_answer": "Short long bone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00109", "question": "What phenotype is associated with Deafness, autosomal dominant 18?", "seeds": [ "Deafness, autosomal dominant 18" ], "gold_answer": "Progressive hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00110", "question": "What is associated with Atopic dermatitis?", "seeds": [ "Atopic dermatitis" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00111", "question": "What is associated with Proximal upper limb amyotrophy?", "seeds": [ "Proximal upper limb amyotrophy" ], "gold_answer": "Abnormality of the musculature of the upper arm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00112", "question": "What is associated with Interdigital loops?", "seeds": [ "Interdigital loops" ], "gold_answer": "Regional abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00113", "question": "What is associated with EEG with spike-wave complexes (>3.5 Hz)?", "seeds": [ "EEG with spike-wave complexes (>3.5 Hz)" ], "gold_answer": "EEG with spike-wave complexes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00114", "question": "What is associated with Optic pathway glioma?", "seeds": [ "Optic pathway glioma" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00115", "question": "What is associated with Intestinal worm?", "seeds": [ "Intestinal worm" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00116", "question": "What is associated with Absent isohemagglutinin level?", "seeds": [ "Absent isohemagglutinin level" ], "gold_answer": "Abnormal isohemagglutinin level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00117", "question": "What is associated with Neurooculocardiogenitourinary syndrome?", "seeds": [ "Neurooculocardiogenitourinary syndrome" ], "gold_answer": "Abnormal cardiac septum morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00118", "question": "What is associated with Reduced impulse control?", "seeds": [ "Reduced impulse control" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00119", "question": "What phenotype is associated with XM SYSTEM?", "seeds": [ "XM SYSTEM" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00120", "question": "What phenotype is associated with Immunodeficiency 133 with autoimmunity and autoinflammation?", "seeds": [ "Immunodeficiency 133 with autoimmunity and autoinflammation" ], "gold_answer": "Immunodeficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00121", "question": "What is associated with Thyroid carcinoma?", "seeds": [ "Thyroid carcinoma" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00122", "question": "What is associated with Chronic pain?", "seeds": [ "Chronic pain" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00123", "question": "What is associated with Abnormal humeral diaphysis morphology?", "seeds": [ "Abnormal humeral diaphysis morphology" ], "gold_answer": "Anomaly of the upper limb diaphyses", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00124", "question": "What phenotype is associated with Melanoma, uveal, susceptibility to, 2?", "seeds": [ "Melanoma, uveal, susceptibility to, 2" ], "gold_answer": "Inflammatory abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00125", "question": "What is associated with Diminished glomerular basement membrane collagen IV alpha 3 chain staining?", "seeds": [ "Diminished glomerular basement membrane collagen IV alpha 3 chain staining" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00126", "question": "What is associated with Pontocerebellar hypoplasia type 9?", "seeds": [ "Pontocerebellar hypoplasia type 9" ], "gold_answer": "AMPD2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_dev_00127", "question": "What phenotype is associated with Orthostatic hypotension 1, due to DBH deficiency?", "seeds": [ "Orthostatic hypotension 1, due to DBH deficiency" ], "gold_answer": "Reduced circulating prolactin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00128", "question": "What is associated with Delayed vertebral ossification?", "seeds": [ "Delayed vertebral ossification" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00129", "question": "What is associated with Descending aorta hypoplasia?", "seeds": [ "Descending aorta hypoplasia" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00130", "question": "What is associated with Congenital amegakaryocytic thrombocytopenia?", "seeds": [ "Congenital amegakaryocytic thrombocytopenia" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00131", "question": "What is associated with Letterer-Siwe disease?", "seeds": [ "Letterer-Siwe disease" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00132", "question": "What is associated with Bony paranasal bossing?", "seeds": [ "Bony paranasal bossing" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00133", "question": "What is associated with Atypical or prolonged hepatitis?", "seeds": [ "Atypical or prolonged hepatitis" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00134", "question": "What is associated with Woolly hair-skin fragility syndrome?", "seeds": [ "Woolly hair-skin fragility syndrome" ], "gold_answer": "Sparse hair", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00135", "question": "What is associated with Postnatal-onset ichthyosiform erythroderma?", "seeds": [ "Postnatal-onset ichthyosiform erythroderma" ], "gold_answer": "Epidermal thickening", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00136", "question": "What is associated with Univentricular heart with absent left sided atrioventricular connection?", "seeds": [ "Univentricular heart with absent left sided atrioventricular connection" ], "gold_answer": "Abnormal connection of the cardiac segments", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00137", "question": "What is associated with Cholestatic liver disease?", "seeds": [ "Cholestatic liver disease" ], "gold_answer": "Abnormality of the biliary system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00138", "question": "What is associated with Dwarfism, Levi type?", "seeds": [ "Dwarfism, Levi type" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00139", "question": "What phenotype is associated with Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9?", "seeds": [ "Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9" ], "gold_answer": "Decreased total leukocyte count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00140", "question": "What is associated with Large humeral epiphyses?", "seeds": [ "Large humeral epiphyses" ], "gold_answer": "Enlarged epiphyses", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00141", "question": "What is associated with Finger joint contracture?", "seeds": [ "Finger joint contracture" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00142", "question": "What is associated with Cochlear malformation?", "seeds": [ "Cochlear malformation" ], "gold_answer": "Abnormal inner ear morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00143", "question": "What is associated with AMME complex?", "seeds": [ "AMME complex" ], "gold_answer": "Abnormality of the curvature of the cornea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00144", "question": "What is associated with Abnormal medullary pyramid morphology?", "seeds": [ "Abnormal medullary pyramid morphology" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00145", "question": "What phenotype is associated with 3-methylcrotonyl-CoA carboxylase deficiency?", "seeds": [ "3-methylcrotonyl-CoA carboxylase deficiency" ], "gold_answer": "Hypoglycemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00146", "question": "What is associated with Double eyebrow?", "seeds": [ "Double eyebrow" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00147", "question": "What is associated with Short 1st metacarpal?", "seeds": [ "Short 1st metacarpal" ], "gold_answer": "Aplasia/Hypoplasia of the phalanges of the thumb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00148", "question": "What is associated with Abnormal circulating valine concentration?", "seeds": [ "Abnormal circulating valine concentration" ], "gold_answer": "Abnormal circulating amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00149", "question": "What is associated with Elevated circulating alpha-aminoadipic semialdehyde concentration?", "seeds": [ "Elevated circulating alpha-aminoadipic semialdehyde concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00150", "question": "What is associated with Craniometadiaphyseal dysplasia?", "seeds": [ "Craniometadiaphyseal dysplasia" ], "gold_answer": "Abnormality of dental eruption", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00151", "question": "What is associated with Solitary rectal ulcer syndrome?", "seeds": [ "Solitary rectal ulcer syndrome" ], "gold_answer": "Internal hemorrhage", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00152", "question": "What is associated with Nuchal bleb, familial?", "seeds": [ "Nuchal bleb, familial" ], "gold_answer": "Abnormality of the genitourinary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00153", "question": "What phenotype is associated with Cardiac conduction defectsudden cardiac death, included?", "seeds": [ "Cardiac conduction defectsudden cardiac death, included" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00154", "question": "What is associated with Abnormality of the abdominal organs?", "seeds": [ "Abnormality of the abdominal organs" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00155", "question": "What is associated with Prolonged euglobulin clot lysis time?", "seeds": [ "Prolonged euglobulin clot lysis time" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00156", "question": "What is associated with 2-3 finger osseus syndactyly?", "seeds": [ "2-3 finger osseus syndactyly" ], "gold_answer": "Osseous finger syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00157", "question": "What is associated with Costocoracoid ligament, congenitally short?", "seeds": [ "Costocoracoid ligament, congenitally short" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00158", "question": "What is associated with Multiple mitochondrial dysfunctions syndrome 5?", "seeds": [ "Multiple mitochondrial dysfunctions syndrome 5" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00159", "question": "What phenotype is associated with Episodic ataxia, type 3?", "seeds": [ "Episodic ataxia, type 3" ], "gold_answer": "Nausea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00160", "question": "What is associated with Hemopericardium?", "seeds": [ "Hemopericardium" ], "gold_answer": "Pericardial effusion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00161", "question": "What is associated with Irregular P-P interval?", "seeds": [ "Irregular P-P interval" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00162", "question": "What is associated with Chess-pawn distal phalanges?", "seeds": [ "Chess-pawn distal phalanges" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00163", "question": "What is associated with Impaired growth-hormone response to insulin stimulation test?", "seeds": [ "Impaired growth-hormone response to insulin stimulation test" ], "gold_answer": "Abnormal response to insulin tolerance test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00164", "question": "What is associated with Tremor, hereditary essential, 2?", "seeds": [ "Tremor, hereditary essential, 2" ], "gold_answer": "Tremor by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00165", "question": "What is associated with SIX2-related frontonasal dysplasia?", "seeds": [ "SIX2-related frontonasal dysplasia" ], "gold_answer": "Abnormality of the metopic suture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00166", "question": "What is associated with Flat nasal alae?", "seeds": [ "Flat nasal alae" ], "gold_answer": "Abnormal external nose morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00167", "question": "What is associated with Renal neutrophilic tubulitis?", "seeds": [ "Renal neutrophilic tubulitis" ], "gold_answer": "Abnormal renal tubule morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00168", "question": "What is associated with Ring chromosome 14 syndrome?", "seeds": [ "Ring chromosome 14 syndrome" ], "gold_answer": "Abnormality of refraction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00169", "question": "What is associated with Recent history of caustic substance ingestion?", "seeds": [ "Recent history of caustic substance ingestion" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00170", "question": "What is associated with Proximal scleroderma?", "seeds": [ "Proximal scleroderma" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00171", "question": "What is associated with Retinitis pigmentosa 55?", "seeds": [ "Retinitis pigmentosa 55" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00172", "question": "What is associated with Focal aware emotional seizure with laughing?", "seeds": [ "Focal aware emotional seizure with laughing" ], "gold_answer": "Focal emotional seizure with laughing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00173", "question": "What is associated with Extrapulmonary tuberculosis?", "seeds": [ "Extrapulmonary tuberculosis" ], "gold_answer": "Opportunistic bacterial infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00174", "question": "What is associated with Ameliorated by colchicine?", "seeds": [ "Ameliorated by colchicine" ], "gold_answer": "Ameliorated by", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00175", "question": "What phenotype is associated with Lithium transport?", "seeds": [ "Lithium transport" ], "gold_answer": "Bipolar affective disorder", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00176", "question": "What is associated with Long thorax?", "seeds": [ "Long thorax" ], "gold_answer": "Enlarged thorax", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00177", "question": "What is associated with Cardiomyopathy, dilated, 3B?", "seeds": [ "Cardiomyopathy, dilated, 3B" ], "gold_answer": "Abnormality of skeletal muscle fiber size", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00178", "question": "What is associated with Anti-MIT3 antibody positivity?", "seeds": [ "Anti-MIT3 antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00179", "question": "What is associated with Sclerodactyly?", "seeds": [ "Sclerodactyly" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00180", "question": "What phenotype is associated with Alazami-Yuan syndrome?", "seeds": [ "Alazami-Yuan syndrome" ], "gold_answer": "Narrow mouth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00181", "question": "What is associated with Limb-girdle muscular dystrophy due to POMK deficiency?", "seeds": [ "Limb-girdle muscular dystrophy due to POMK deficiency" ], "gold_answer": "POMK", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_dev_00182", "question": "What is associated with Increased lymph node lymphocyte cytoplasm?", "seeds": [ "Increased lymph node lymphocyte cytoplasm" ], "gold_answer": "Abnormal lymph-node lymphocyte cytoplasm morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00183", "question": "What is associated with Increased intestinal transit time?", "seeds": [ "Increased intestinal transit time" ], "gold_answer": "Abnormal gastrointestinal motility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00184", "question": "What is associated with Hematuria?", "seeds": [ "Hematuria" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00185", "question": "What is associated with Charcot-Marie-Tooth disease type 2P?", "seeds": [ "Charcot-Marie-Tooth disease type 2P" ], "gold_answer": "LRSAM1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_00186", "question": "What is associated with Aplasia/Hypoplasia of the maxilla?", "seeds": [ "Aplasia/Hypoplasia of the maxilla" ], "gold_answer": "Aplasia/hypoplasia involving the skeleton", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00187", "question": "What is associated with Low maternal circulating chorionic gonadotropin concentration?", "seeds": [ "Low maternal circulating chorionic gonadotropin concentration" ], "gold_answer": "Pregnancy history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00188", "question": "What is associated with Abnormal lacrimal artery morphology?", "seeds": [ "Abnormal lacrimal artery morphology" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00189", "question": "What is associated with EEG with generalized low amplitude activity?", "seeds": [ "EEG with generalized low amplitude activity" ], "gold_answer": "Abnormality of central nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00190", "question": "What is associated with Porencephalic cyst?", "seeds": [ "Porencephalic cyst" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00191", "question": "What is associated with Abnormality of the endocrine system?", "seeds": [ "Abnormality of the endocrine system" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00192", "question": "What is associated with Amelia involving the lower limbs?", "seeds": [ "Amelia involving the lower limbs" ], "gold_answer": "Amelia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00193", "question": "What is associated with Pruritus?", "seeds": [ "Pruritus" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00194", "question": "What is associated with Positive talar tilt test?", "seeds": [ "Positive talar tilt test" ], "gold_answer": "Abnormality of lower limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00195", "question": "What is associated with Fixed elbow flexion?", "seeds": [ "Fixed elbow flexion" ], "gold_answer": "Abnormal elbow physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00196", "question": "What is associated with Adamantinoma of long bones?", "seeds": [ "Adamantinoma of long bones" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00197", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal dominant 42?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 42" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00198", "question": "What is associated with Alport syndrome?", "seeds": [ "Alport syndrome" ], "gold_answer": "Abnormal urine protein level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00199", "question": "What phenotype is associated with Congenital heart defects, multiple types, 8, with or without heterotaxy?", "seeds": [ "Congenital heart defects, multiple types, 8, with or without heterotaxy" ], "gold_answer": "Tracheomalacia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00200", "question": "What phenotype is associated with Rhizomelic chondrodysplasia punctata, type 5?", "seeds": [ "Rhizomelic chondrodysplasia punctata, type 5" ], "gold_answer": "Developmental cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00201", "question": "What phenotype is associated with Hemophagocytic syndrome associated with an infection?", "seeds": [ "Hemophagocytic syndrome associated with an infection" ], "gold_answer": "Hypofibrinogenemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00202", "question": "What is associated with Increased total B cell count?", "seeds": [ "Increased total B cell count" ], "gold_answer": "Abnormal B cell count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00203", "question": "What phenotype is associated with 3-hydroxyisobutyric aciduria?", "seeds": [ "3-hydroxyisobutyric aciduria" ], "gold_answer": "Cryptorchidism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00204", "question": "What is associated with Bracket epiphyses of the middle phalanges of the hand?", "seeds": [ "Bracket epiphyses of the middle phalanges of the hand" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00205", "question": "What is associated with Deviation of finger?", "seeds": [ "Deviation of finger" ], "gold_answer": "Deviation of the hand or of fingers of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00206", "question": "What is associated with Extreme axis deviation?", "seeds": [ "Extreme axis deviation" ], "gold_answer": "Abnormal ventricular axis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00207", "question": "What is associated with Anhydramnios?", "seeds": [ "Anhydramnios" ], "gold_answer": "Abnormality of the amniotic fluid", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00208", "question": "What is associated with Cutaneous myxoma?", "seeds": [ "Cutaneous myxoma" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00209", "question": "What phenotype is associated with Charcot-Marie-Tooth disease, axonal, type 2E?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2E" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00210", "question": "What is associated with Radioulnar interosseous membrane tear?", "seeds": [ "Radioulnar interosseous membrane tear" ], "gold_answer": "Abnormal forearm morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00211", "question": "What is associated with Large joint hypermobilty?", "seeds": [ "Large joint hypermobilty" ], "gold_answer": "Abnormal joint physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00212", "question": "What is associated with History of recent animal bite?", "seeds": [ "History of recent animal bite" ], "gold_answer": "Recent past medical history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00213", "question": "What is associated with Carotid artery tortuosity?", "seeds": [ "Carotid artery tortuosity" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00214", "question": "What is associated with Abnormal anterior horn cell morphology?", "seeds": [ "Abnormal anterior horn cell morphology" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00215", "question": "What is associated with Abnormal aortic physiology?", "seeds": [ "Abnormal aortic physiology" ], "gold_answer": "Abnormal arterial physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00216", "question": "What is associated with Pseudoepiphysis of the distal phalanx of the 3rd toe?", "seeds": [ "Pseudoepiphysis of the distal phalanx of the 3rd toe" ], "gold_answer": "Abnormality of the epiphysis of the distal phalanx of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00217", "question": "What phenotype is associated with Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8" ], "gold_answer": "Distal amyotrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00218", "question": "What is associated with Abnormality of the tongue?", "seeds": [ "Abnormality of the tongue" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00219", "question": "What is associated with Decreased anterioposterior diameter of lumbar vertebral bodies?", "seeds": [ "Decreased anterioposterior diameter of lumbar vertebral bodies" ], "gold_answer": "Hypoplastic vertebral bodies", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00220", "question": "What is associated with Symmetric spinal nerve root neurofibromas?", "seeds": [ "Symmetric spinal nerve root neurofibromas" ], "gold_answer": "Neurofibroma by anatomical location", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00221", "question": "What is associated with Broad nail?", "seeds": [ "Broad nail" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00222", "question": "What is associated with Osteosclerosis of the base of the skull?", "seeds": [ "Osteosclerosis of the base of the skull" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00223", "question": "What is associated with Decreased natural killer cell perforin expression?", "seeds": [ "Decreased natural killer cell perforin expression" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00224", "question": "What is associated with 3MC syndrome 3?", "seeds": [ "3MC syndrome 3" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00225", "question": "What is associated with Anomalous tracheal cartilage?", "seeds": [ "Anomalous tracheal cartilage" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00226", "question": "What is associated with Poliomyelitis?", "seeds": [ "Poliomyelitis" ], "gold_answer": "Fatigable weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00227", "question": "What is associated with Pain exacerbated by wrist deviation?", "seeds": [ "Pain exacerbated by wrist deviation" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00228", "question": "What is associated with Cysteine peptiduria?", "seeds": [ "Cysteine peptiduria" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00229", "question": "What is associated with Increased circulating free fatty acid level?", "seeds": [ "Increased circulating free fatty acid level" ], "gold_answer": "Abnormal circulating fatty-acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00230", "question": "What is associated with Fibrous dysplasia of the bones?", "seeds": [ "Fibrous dysplasia of the bones" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00231", "question": "What is associated with Stippling of the epiphysis of the proximal phalanx of the thumb?", "seeds": [ "Stippling of the epiphysis of the proximal phalanx of the thumb" ], "gold_answer": "Abnormality of the epiphysis of the proximal phalanx of the thumb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00232", "question": "What is associated with Neurodegeneration with brain iron accumulation 7?", "seeds": [ "Neurodegeneration with brain iron accumulation 7" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00233", "question": "What is associated with Decreased/absent ankle reflexes?", "seeds": [ "Decreased/absent ankle reflexes" ], "gold_answer": "Areflexia of lower limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00234", "question": "What is associated with Episodic hypoventilation?", "seeds": [ "Episodic hypoventilation" ], "gold_answer": "Hypoventilation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00235", "question": "What is associated with Pseudo-chilblains on fingers?", "seeds": [ "Pseudo-chilblains on fingers" ], "gold_answer": "Pseudo-chilblain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00236", "question": "What is associated with Acute encephalopathy with biphasic seizures and late reduced diffusion?", "seeds": [ "Acute encephalopathy with biphasic seizures and late reduced diffusion" ], "gold_answer": "Infection-related seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00237", "question": "What phenotype is associated with Dermatoleukodystrophy?", "seeds": [ "Dermatoleukodystrophy" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00238", "question": "What is associated with Ataxia-hypogonadism-choroidal dystrophy syndrome?", "seeds": [ "Ataxia-hypogonadism-choroidal dystrophy syndrome" ], "gold_answer": "Puberty and gonadal disorders", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00239", "question": "What is associated with Avascular necrosis?", "seeds": [ "Avascular necrosis" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00240", "question": "What is associated with Familial multiple nevi flammei?", "seeds": [ "Familial multiple nevi flammei" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00241", "question": "What is associated with Elevated urinary N-carbamyl-beta-aminoisobutyric acid level?", "seeds": [ "Elevated urinary N-carbamyl-beta-aminoisobutyric acid level" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00242", "question": "What is associated with Abnormal CSF branched chain amino acid concentration?", "seeds": [ "Abnormal CSF branched chain amino acid concentration" ], "gold_answer": "Abnormal CSF amino acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00243", "question": "What is associated with Erythema migrans?", "seeds": [ "Erythema migrans" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00244", "question": "What is associated with Brachydactyly, preaxial, with hallux varus and thumb abduction?", "seeds": [ "Brachydactyly, preaxial, with hallux varus and thumb abduction" ], "gold_answer": "Abnormality of thumb phalanx", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00245", "question": "What is associated with EEG with constitutional variants?", "seeds": [ "EEG with constitutional variants" ], "gold_answer": "EEG abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00246", "question": "What is associated with Cardiomyopathy, dilated, 1A?", "seeds": [ "Cardiomyopathy, dilated, 1A" ], "gold_answer": "Atrioventricular block", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00247", "question": "What is associated with Reduced insulin-like factor 3 level?", "seeds": [ "Reduced insulin-like factor 3 level" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00248", "question": "What is associated with Reduced tissue aspartylglucosaminidase activity?", "seeds": [ "Reduced tissue aspartylglucosaminidase activity" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00249", "question": "What is associated with Pancreatic fibrosis?", "seeds": [ "Pancreatic fibrosis" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00250", "question": "What is associated with Muscle fiber tubuloreticular inclusions?", "seeds": [ "Muscle fiber tubuloreticular inclusions" ], "gold_answer": "Muscle fiber inclusion bodies", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00251", "question": "What is associated with Pointed ulna?", "seeds": [ "Pointed ulna" ], "gold_answer": "Abnormal morphology of ulna", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00252", "question": "What phenotype is associated with Familial dysalbuminemic hyperthyroxinemia?", "seeds": [ "Familial dysalbuminemic hyperthyroxinemia" ], "gold_answer": "Abnormal circulating free T4 concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00253", "question": "What is associated with Broad-based gait?", "seeds": [ "Broad-based gait" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00254", "question": "What is associated with Dermal multinucleated giant cells?", "seeds": [ "Dermal multinucleated giant cells" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00255", "question": "What is associated with Autism?", "seeds": [ "Autism" ], "gold_answer": "Diagnostic behavioral phenotype", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00256", "question": "What is associated with Blue urine?", "seeds": [ "Blue urine" ], "gold_answer": "Abnormal urinary color", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00257", "question": "What is associated with Anarthria?", "seeds": [ "Anarthria" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00258", "question": "What is associated with KLHL7-related Bohring-Opitz-like syndrome?", "seeds": [ "KLHL7-related Bohring-Opitz-like syndrome" ], "gold_answer": "KLHL7", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_00259", "question": "What is associated with Leukoencephalopathy with dystonia and motor neuropathy?", "seeds": [ "Leukoencephalopathy with dystonia and motor neuropathy" ], "gold_answer": "Impaired proprioception", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00260", "question": "What is associated with Abnormal facial skeleton morphology?", "seeds": [ "Abnormal facial skeleton morphology" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00261", "question": "What is associated with Linear IgA deposits along the epidermal basement membrane zone?", "seeds": [ "Linear IgA deposits along the epidermal basement membrane zone" ], "gold_answer": "Abnormal dermoepidermal junction morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00262", "question": "What is associated with Reduced hepatic carbamoylphosphate synthetase 1 activity?", "seeds": [ "Reduced hepatic carbamoylphosphate synthetase 1 activity" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00263", "question": "What phenotype is associated with Ciliary dyskinesia, primary, 15?", "seeds": [ "Ciliary dyskinesia, primary, 15" ], "gold_answer": "Nasal polyposis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00264", "question": "What phenotype is associated with Transaldolase deficiency?", "seeds": [ "Transaldolase deficiency" ], "gold_answer": "Abnormal left ventricular outflow tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00265", "question": "What is associated with Reduced vital capacity?", "seeds": [ "Reduced vital capacity" ], "gold_answer": "Abnormality on pulmonary function testing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00266", "question": "What is associated with Ulnar deviation of the hand or of fingers of the hand?", "seeds": [ "Ulnar deviation of the hand or of fingers of the hand" ], "gold_answer": "Deviation of the hand or of fingers of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00267", "question": "What is associated with Increased circulating T4 concentration?", "seeds": [ "Increased circulating T4 concentration" ], "gold_answer": "Abnormal circulating thyroid hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00268", "question": "What is associated with Thin ribs-tubular bones-dysmorphism syndrome?", "seeds": [ "Thin ribs-tubular bones-dysmorphism syndrome" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00269", "question": "What is associated with Atypical juvenile parkinsonism?", "seeds": [ "Atypical juvenile parkinsonism" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00270", "question": "What phenotype is associated with Immunodeficiency 26 with or without neurologic abnormalities?", "seeds": [ "Immunodeficiency 26 with or without neurologic abnormalities" ], "gold_answer": "Cerebellar vermis hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00271", "question": "What is associated with Low tissue ferrochelatase activity?", "seeds": [ "Low tissue ferrochelatase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00272", "question": "What is associated with Decreased renal parenchymal thickness?", "seeds": [ "Decreased renal parenchymal thickness" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00273", "question": "What is associated with Subcutaneous hemorrhage?", "seeds": [ "Subcutaneous hemorrhage" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00274", "question": "What phenotype is associated with Congenital prothrombin deficiency?", "seeds": [ "Congenital prothrombin deficiency" ], "gold_answer": "Prolonged bleeding time", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00275", "question": "What is associated with Prominent deltoid tuberosities?", "seeds": [ "Prominent deltoid tuberosities" ], "gold_answer": "Abnormal deltoid tuberosity morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00276", "question": "What is associated with Leakage of dye on fundus fluorescein angiography?", "seeds": [ "Leakage of dye on fundus fluorescein angiography" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00277", "question": "What is associated with Retrocerebellar cyst?", "seeds": [ "Retrocerebellar cyst" ], "gold_answer": "Central nervous system cyst", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00278", "question": "What is associated with Polydactyly affecting the 3rd toe?", "seeds": [ "Polydactyly affecting the 3rd toe" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00279", "question": "What phenotype is associated with Neurodevelopmental disorder with or without variable movement or behavioral abnormalities?", "seeds": [ "Neurodevelopmental disorder with or without variable movement or behavioral abnormalities" ], "gold_answer": "Autistic behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00280", "question": "What is associated with Ciliary dyskinesia, primary, 24?", "seeds": [ "Ciliary dyskinesia, primary, 24" ], "gold_answer": "Dextrocardia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00281", "question": "What is associated with Hypoamylasemia?", "seeds": [ "Hypoamylasemia" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00282", "question": "What is associated with Glomerular basement membrane wrinkling?", "seeds": [ "Glomerular basement membrane wrinkling" ], "gold_answer": "Abnormal glomerular basement membrane morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00283", "question": "What is associated with Madelung-like forearm deformities?", "seeds": [ "Madelung-like forearm deformities" ], "gold_answer": "Abnormal morphology of the radius", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00284", "question": "What is associated with Diastolic heart murmur?", "seeds": [ "Diastolic heart murmur" ], "gold_answer": "Abnormal heart sound", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00285", "question": "What is associated with Usher syndrome, type IG?", "seeds": [ "Usher syndrome, type IG" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00286", "question": "What is associated with Neoplasm of the respiratory system?", "seeds": [ "Neoplasm of the respiratory system" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00287", "question": "What is associated with Sleep apnea?", "seeds": [ "Sleep apnea" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00288", "question": "What is associated with Interrupted aortic arch type B?", "seeds": [ "Interrupted aortic arch type B" ], "gold_answer": "Abnormal aortic morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00289", "question": "What is associated with Pelvic dysplasia - arthrogryposis of lower limbs?", "seeds": [ "Pelvic dysplasia - arthrogryposis of lower limbs" ], "gold_answer": "Limb joint contracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00290", "question": "What is associated with Abnormal EKG?", "seeds": [ "Abnormal EKG" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00291", "question": "What is associated with Leukoencephalopathy, cystic, without megalencephaly?", "seeds": [ "Leukoencephalopathy, cystic, without megalencephaly" ], "gold_answer": "Language impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00292", "question": "What is associated with Horizontal inferior border of scapula?", "seeds": [ "Horizontal inferior border of scapula" ], "gold_answer": "Abnormal scapula morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00293", "question": "What is associated with Complex organic aciduria?", "seeds": [ "Complex organic aciduria" ], "gold_answer": "Organic aciduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00294", "question": "What is associated with Abnormality of the round window?", "seeds": [ "Abnormality of the round window" ], "gold_answer": "Abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00295", "question": "What is associated with Small face?", "seeds": [ "Small face" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00296", "question": "What is associated with Broad thumb?", "seeds": [ "Broad thumb" ], "gold_answer": "Broad phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00297", "question": "What is associated with X-linked Charcot-Marie-Tooth disease type 5?", "seeds": [ "X-linked Charcot-Marie-Tooth disease type 5" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00298", "question": "What is associated with Hypertrophy of skin of soles?", "seeds": [ "Hypertrophy of skin of soles" ], "gold_answer": "Regional abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00299", "question": "What is associated with Hypoplasia of the radius?", "seeds": [ "Hypoplasia of the radius" ], "gold_answer": "Limb undergrowth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00300", "question": "What is associated with Carotenemia, familial?", "seeds": [ "Carotenemia, familial" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00301", "question": "What phenotype is associated with Autosomal recessive spastic paraplegia type 35?", "seeds": [ "Autosomal recessive spastic paraplegia type 35" ], "gold_answer": "Corpus callosum atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00302", "question": "What is associated with Reduced circulating leukotriene C4 concentration?", "seeds": [ "Reduced circulating leukotriene C4 concentration" ], "gold_answer": "Abnormal circulating fatty-acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00303", "question": "What phenotype is associated with Wolfram syndrome, mitochondrial form?", "seeds": [ "Wolfram syndrome, mitochondrial form" ], "gold_answer": "Blindness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00304", "question": "What is associated with Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome?", "seeds": [ "Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome" ], "gold_answer": "EMG: neuropathic changes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00305", "question": "What is associated with Immunodeficiency 28?", "seeds": [ "Immunodeficiency 28" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00306", "question": "What is associated with Titubation?", "seeds": [ "Titubation" ], "gold_answer": "Involuntary movements", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00307", "question": "What is associated with Warfarin-induced skin necrosis?", "seeds": [ "Warfarin-induced skin necrosis" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00308", "question": "What is associated with 17q11 microdeletion syndrome?", "seeds": [ "17q11 microdeletion syndrome" ], "gold_answer": "Abnormality iris morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00309", "question": "What is associated with Familial hypofibrinogenemia?", "seeds": [ "Familial hypofibrinogenemia" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00310", "question": "What is associated with Decreased circulating 7-dehydrocholesterol concentration?", "seeds": [ "Decreased circulating 7-dehydrocholesterol concentration" ], "gold_answer": "Abnormal circulating 7-dehydrocholesterol concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00311", "question": "What is associated with Toxemia of pregnancy?", "seeds": [ "Toxemia of pregnancy" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00312", "question": "What is associated with Paradoxical insomnia?", "seeds": [ "Paradoxical insomnia" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00313", "question": "What phenotype is associated with Complex regional pain syndrome?", "seeds": [ "Complex regional pain syndrome" ], "gold_answer": "Edema of the upper limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00314", "question": "What phenotype is associated with Microcephalic primordial dwarfism, Toriello type?", "seeds": [ "Microcephalic primordial dwarfism, Toriello type" ], "gold_answer": "Intrauterine growth retardation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00315", "question": "What is associated with Positive blood molindone test?", "seeds": [ "Positive blood molindone test" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00316", "question": "What is associated with Spinocerebellar ataxia type 27B?", "seeds": [ "Spinocerebellar ataxia type 27B" ], "gold_answer": "FGF14", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_00317", "question": "What is associated with Abnormal ciliary body morphology?", "seeds": [ "Abnormal ciliary body morphology" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00318", "question": "What is associated with Idiopathic small fibers neuropathy?", "seeds": [ "Idiopathic small fibers neuropathy" ], "gold_answer": "Abnormal peripheral nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00319", "question": "What is associated with Schizencephaly?", "seeds": [ "Schizencephaly" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00320", "question": "What is associated with Bardet-Biedl syndrome 4?", "seeds": [ "Bardet-Biedl syndrome 4" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00321", "question": "What phenotype is associated with Combined deficiency of factor V and factor VIII?", "seeds": [ "Combined deficiency of factor V and factor VIII" ], "gold_answer": "Reduced coagulation factor V activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00322", "question": "What is associated with White eyelashes?", "seeds": [ "White eyelashes" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00323", "question": "What is associated with Mildly reduced visual acuity?", "seeds": [ "Mildly reduced visual acuity" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00324", "question": "What is associated with Penetrating aortic ulcer?", "seeds": [ "Penetrating aortic ulcer" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00325", "question": "What is associated with Triangular shaped phalanges of the 4th finger?", "seeds": [ "Triangular shaped phalanges of the 4th finger" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00326", "question": "What is associated with Leber hereditary optic neuropathy?", "seeds": [ "Leber hereditary optic neuropathy" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00327", "question": "What is associated with Triangular epiphysis of the proximal phalanx of the 5th toe?", "seeds": [ "Triangular epiphysis of the proximal phalanx of the 5th toe" ], "gold_answer": "Abnormality of the epiphysis of the proximal phalanx of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00328", "question": "What phenotype is associated with Brachytelephalangy-dysmorphism-Kallmann syndrome?", "seeds": [ "Brachytelephalangy-dysmorphism-Kallmann syndrome" ], "gold_answer": "Aplastic/hypoplastic toenail", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00329", "question": "What is associated with Osteolytic defects of the proximal phalanx of the 4th finger?", "seeds": [ "Osteolytic defects of the proximal phalanx of the 4th finger" ], "gold_answer": "Abnormality of the proximal phalanx of the 4th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00330", "question": "What is associated with Neurodevelopmental disorder with infantile epileptic spasms?", "seeds": [ "Neurodevelopmental disorder with infantile epileptic spasms" ], "gold_answer": "Heterotropia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00331", "question": "What is associated with Positional foot deformity?", "seeds": [ "Positional foot deformity" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00332", "question": "What is associated with Diffuse alveolar hemorrhage?", "seeds": [ "Diffuse alveolar hemorrhage" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00333", "question": "What is associated with Fusion of the caudate and putamen?", "seeds": [ "Fusion of the caudate and putamen" ], "gold_answer": "Abnormal caudate nucleus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00334", "question": "What phenotype is associated with Adult-onset dystonia-parkinsonism?", "seeds": [ "Adult-onset dystonia-parkinsonism" ], "gold_answer": "Jaw hyperreflexia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00335", "question": "What is associated with History of recent viral illness?", "seeds": [ "History of recent viral illness" ], "gold_answer": "Recent past medical history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00336", "question": "What is associated with Talipes cavus equinovarus?", "seeds": [ "Talipes cavus equinovarus" ], "gold_answer": "Talipes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00337", "question": "What is associated with Aplasia/Hypoplasia of the phalanges of the 2nd finger?", "seeds": [ "Aplasia/Hypoplasia of the phalanges of the 2nd finger" ], "gold_answer": "Aplasia/Hypoplasia of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00338", "question": "What is associated with Thyroid hyperplasia?", "seeds": [ "Thyroid hyperplasia" ], "gold_answer": "Abnormal thyroid morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00339", "question": "What is associated with Reduced hepatic glyoxylate reductase activity?", "seeds": [ "Reduced hepatic glyoxylate reductase activity" ], "gold_answer": "Abnormal liver enzyme activity or concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00340", "question": "What is associated with Weaver-Williams syndrome?", "seeds": [ "Weaver-Williams syndrome" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00341", "question": "What is associated with Frequent?", "seeds": [ "Frequent" ], "gold_answer": "Frequency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00342", "question": "What is associated with Nasal secretion neutrophilia?", "seeds": [ "Nasal secretion neutrophilia" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00343", "question": "What is associated with Protruding coccyx?", "seeds": [ "Protruding coccyx" ], "gold_answer": "Abnormal pelvic girdle bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00344", "question": "What is associated with Birk-Landau-Perez syndrome?", "seeds": [ "Birk-Landau-Perez syndrome" ], "gold_answer": "Functional motor deficit", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00345", "question": "What is associated with Patellar aplasia?", "seeds": [ "Patellar aplasia" ], "gold_answer": "Aplasia/hypoplasia involving bones of the extremities", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00346", "question": "What is associated with Conjunctivochalasis?", "seeds": [ "Conjunctivochalasis" ], "gold_answer": "Abnormal conjunctiva morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00347", "question": "What is associated with Small intestinal polyp?", "seeds": [ "Small intestinal polyp" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00348", "question": "What is associated with Thyroidization-type tubular atrophy?", "seeds": [ "Thyroidization-type tubular atrophy" ], "gold_answer": "Abnormal renal tubular epithelial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00349", "question": "What is associated with Decreased total basophil count?", "seeds": [ "Decreased total basophil count" ], "gold_answer": "Abnormal granulocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00350", "question": "What is associated with Anti-neurofascin 186 antibody positivity?", "seeds": [ "Anti-neurofascin 186 antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00351", "question": "What is associated with Deafness, autosomal recessive 123?", "seeds": [ "Deafness, autosomal recessive 123" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00352", "question": "What is associated with Elevated brain succinate level by MRS?", "seeds": [ "Elevated brain succinate level by MRS" ], "gold_answer": "Brain imaging abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00353", "question": "What is associated with Elevated hypoxanthine-guanine phosphoribosyltransferase level?", "seeds": [ "Elevated hypoxanthine-guanine phosphoribosyltransferase level" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00354", "question": "What is associated with Amyloidosis, familial visceral?", "seeds": [ "Amyloidosis, familial visceral" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00355", "question": "What is associated with Quadriceps muscle atrophy?", "seeds": [ "Quadriceps muscle atrophy" ], "gold_answer": "Proximal lower limb amyotrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00356", "question": "What is associated with Neuropathy, ataxia, and retinitis pigmentosa?", "seeds": [ "Neuropathy, ataxia, and retinitis pigmentosa" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00357", "question": "What is associated with Helicobacter pylori infection?", "seeds": [ "Helicobacter pylori infection" ], "gold_answer": "Recurrent infection of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00358", "question": "What is associated with Erythrokeratodermia variabilis et progressiva 2?", "seeds": [ "Erythrokeratodermia variabilis et progressiva 2" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00359", "question": "What is associated with PAGOD syndrome?", "seeds": [ "PAGOD syndrome" ], "gold_answer": "Abnormal meningeal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00360", "question": "What phenotype is associated with Fructosuria, essential?", "seeds": [ "Fructosuria, essential" ], "gold_answer": "Elevated urine fructose level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00361", "question": "What phenotype is associated with Polycystic ovary syndrome 1?", "seeds": [ "Polycystic ovary syndrome 1" ], "gold_answer": "Oligomenorrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00362", "question": "What is associated with Spermatogenic failure 84?", "seeds": [ "Spermatogenic failure 84" ], "gold_answer": "Functional abnormality of male internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00363", "question": "What is associated with Occupational history of putting fingers in other people's mouths?", "seeds": [ "Occupational history of putting fingers in other people's mouths" ], "gold_answer": "Occupational exposure history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00364", "question": "What is associated with Welander distal myopathy?", "seeds": [ "Welander distal myopathy" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00365", "question": "What is associated with Tracheobronchial leiomyomatosis?", "seeds": [ "Tracheobronchial leiomyomatosis" ], "gold_answer": "Neoplasm of the lung", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00366", "question": "What is associated with Myopathy, lactic acidosis, and sideroblastic anemia 2?", "seeds": [ "Myopathy, lactic acidosis, and sideroblastic anemia 2" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00367", "question": "What is associated with Pseudarthrosis of the forearm bones?", "seeds": [ "Pseudarthrosis of the forearm bones" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00368", "question": "What is associated with Capillary malformation-arteriovenous malformation 2?", "seeds": [ "Capillary malformation-arteriovenous malformation 2" ], "gold_answer": "Abnormal cerebral vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00369", "question": "What phenotype is associated with Idiopathic pulmonary arterial hypertension?", "seeds": [ "Idiopathic pulmonary arterial hypertension" ], "gold_answer": "Right ventricular hypertrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00370", "question": "What is associated with Retinal arteries, tortuosity of?", "seeds": [ "Retinal arteries, tortuosity of" ], "gold_answer": "Abnormal head blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00371", "question": "What is associated with Retinal telangiectasia and hypogammaglobulinemia?", "seeds": [ "Retinal telangiectasia and hypogammaglobulinemia" ], "gold_answer": "Abnormal retinal vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00372", "question": "What phenotype is associated with Primary hyperoxaluria type 2?", "seeds": [ "Primary hyperoxaluria type 2" ], "gold_answer": "Nephrocalcinosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00373", "question": "What phenotype is associated with Immunodeficiency 84?", "seeds": [ "Immunodeficiency 84" ], "gold_answer": "Decreased total B cell count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00374", "question": "What is associated with Cardiocranial syndrome, Pfeiffer type?", "seeds": [ "Cardiocranial syndrome, Pfeiffer type" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00375", "question": "What is associated with Abnormal midbrain morphology?", "seeds": [ "Abnormal midbrain morphology" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00376", "question": "What is associated with Elevated circulating hepcidin concentration?", "seeds": [ "Elevated circulating hepcidin concentration" ], "gold_answer": "Acute phase response", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00377", "question": "What is associated with 4-hydroxyphenyllactic aciduria?", "seeds": [ "4-hydroxyphenyllactic aciduria" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00378", "question": "What phenotype is associated with Hand-foot-genital syndrome?", "seeds": [ "Hand-foot-genital syndrome" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00379", "question": "What is associated with Bile acid synthesis defect, congenital, 6?", "seeds": [ "Bile acid synthesis defect, congenital, 6" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00380", "question": "What is associated with Omphalocele syndrome, Shprintzen-Goldberg type?", "seeds": [ "Omphalocele syndrome, Shprintzen-Goldberg type" ], "gold_answer": "Abnormal esophagus physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00381", "question": "What is associated with Epiblepharon of lower lid?", "seeds": [ "Epiblepharon of lower lid" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00382", "question": "What is associated with Brachycephaly, trichomegaly, and developmental delay?", "seeds": [ "Brachycephaly, trichomegaly, and developmental delay" ], "gold_answer": "Abnormal palmar dermatoglyphics", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00383", "question": "What is associated with Exercise-induced U wave inversion?", "seeds": [ "Exercise-induced U wave inversion" ], "gold_answer": "Abnormal U wave", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00384", "question": "What is associated with Transcobalamin deficiency?", "seeds": [ "Transcobalamin deficiency" ], "gold_answer": "Renal insufficiency", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00385", "question": "What phenotype is associated with 3-@methylglutaconic aciduria, type IV?", "seeds": [ "3-@methylglutaconic aciduria, type IV" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00386", "question": "What is associated with Infantile myofibromatosis?", "seeds": [ "Infantile myofibromatosis" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00387", "question": "What is associated with Abnormal neuron morphology?", "seeds": [ "Abnormal neuron morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00388", "question": "What is associated with Gonadotropin-releasing hormone deficiency?", "seeds": [ "Gonadotropin-releasing hormone deficiency" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00389", "question": "What is associated with Renal angiomyolipoma?", "seeds": [ "Renal angiomyolipoma" ], "gold_answer": "Renal hamartoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00390", "question": "What is associated with Wide ulnar metaphysis?", "seeds": [ "Wide ulnar metaphysis" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00391", "question": "What phenotype is associated with Greig cephalopolysyndactyly syndrome?", "seeds": [ "Greig cephalopolysyndactyly syndrome" ], "gold_answer": "Ventriculomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00392", "question": "What is associated with Melorheostosis with osteopoikilosis?", "seeds": [ "Melorheostosis with osteopoikilosis" ], "gold_answer": "Skin nodule", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00393", "question": "What is associated with Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation?", "seeds": [ "Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation" ], "gold_answer": "Abnormal forebrain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00394", "question": "What is associated with Abnormal circulating A-type atrial natriuretic peptide concentration?", "seeds": [ "Abnormal circulating A-type atrial natriuretic peptide concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00395", "question": "What is associated with Decreased circulating apolipoprotein A-I concentration?", "seeds": [ "Decreased circulating apolipoprotein A-I concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00396", "question": "What is associated with Hypothreoninemia?", "seeds": [ "Hypothreoninemia" ], "gold_answer": "Abnormal circulating threonine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00397", "question": "What phenotype is associated with Hypertriglyceridemia, transient infantile?", "seeds": [ "Hypertriglyceridemia, transient infantile" ], "gold_answer": "Hepatic steatosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00398", "question": "What is associated with Anti-DPPX antibody?", "seeds": [ "Anti-DPPX antibody" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00399", "question": "What is associated with Gottron's papules?", "seeds": [ "Gottron's papules" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00400", "question": "What is associated with Klazomania?", "seeds": [ "Klazomania" ], "gold_answer": "Involuntary vocalization", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00401", "question": "What is associated with Reduced circulating CH50 activity?", "seeds": [ "Reduced circulating CH50 activity" ], "gold_answer": "Abnormality of humoral immunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00402", "question": "What is associated with Spinal cord granuloma?", "seeds": [ "Spinal cord granuloma" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00403", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 45?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 45" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00404", "question": "What is associated with Generalized periodontitis?", "seeds": [ "Generalized periodontitis" ], "gold_answer": "Abnormal oral mucosa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00405", "question": "What phenotype is associated with Vascular malformation, primary intraosseous?", "seeds": [ "Vascular malformation, primary intraosseous" ], "gold_answer": "Gingival bleeding", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00406", "question": "What is associated with Intrauterine digital amputation?", "seeds": [ "Intrauterine digital amputation" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00407", "question": "What is associated with Increased stool urobilinogen concentration?", "seeds": [ "Increased stool urobilinogen concentration" ], "gold_answer": "Abnormal stool urobilinogen concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00408", "question": "What is associated with Abnormal naive CD8+ T cell proportion?", "seeds": [ "Abnormal naive CD8+ T cell proportion" ], "gold_answer": "Abnormal naive T cell proportion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00409", "question": "What is associated with Hand polydactyly?", "seeds": [ "Hand polydactyly" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00410", "question": "What is associated with Abnormal lymph-node tissue architecture?", "seeds": [ "Abnormal lymph-node tissue architecture" ], "gold_answer": "Biospecimen phenotypic feature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00411", "question": "What phenotype is associated with Phelan-Mcdermid syndrome?", "seeds": [ "Phelan-Mcdermid syndrome" ], "gold_answer": "Micrognathia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00412", "question": "What is associated with Micro syndrome?", "seeds": [ "Micro syndrome" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00413", "question": "What is associated with Patchy sclerosis of the proximal phalanx of the 5th toe?", "seeds": [ "Patchy sclerosis of the proximal phalanx of the 5th toe" ], "gold_answer": "Sclerosis of the proximal phalanx of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00414", "question": "What is associated with Recurrent Neisserial infections?", "seeds": [ "Recurrent Neisserial infections" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00415", "question": "What is associated with Bradylalia?", "seeds": [ "Bradylalia" ], "gold_answer": "Abnormal speech rate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00416", "question": "What is associated with Best corrected visual acuity 0.2 LogMAR?", "seeds": [ "Best corrected visual acuity 0.2 LogMAR" ], "gold_answer": "Abnormal best corrected visual acuity test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00417", "question": "What is associated with Cholestasis, progressive familial intrahepatic, 9?", "seeds": [ "Cholestasis, progressive familial intrahepatic, 9" ], "gold_answer": "Visceromegaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00418", "question": "What is associated with Calcification of the aorta?", "seeds": [ "Calcification of the aorta" ], "gold_answer": "Arterial calcification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00419", "question": "What is associated with Alcohol-induced rhabdomyolysis?", "seeds": [ "Alcohol-induced rhabdomyolysis" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00420", "question": "What is associated with Absent forearm bone?", "seeds": [ "Absent forearm bone" ], "gold_answer": "Abnormal forearm bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00421", "question": "What is associated with Venom allergy?", "seeds": [ "Venom allergy" ], "gold_answer": "Allergy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00422", "question": "What is associated with Lacrimal gland aplasia?", "seeds": [ "Lacrimal gland aplasia" ], "gold_answer": "Abnormal lacrimal gland morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00423", "question": "What is associated with Hepatic cysts?", "seeds": [ "Hepatic cysts" ], "gold_answer": "Cystic liver disease", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00424", "question": "What is associated with Low tissue ferrochelatase activity?", "seeds": [ "Low tissue ferrochelatase activity" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00425", "question": "What is associated with Sonoda syndrome?", "seeds": [ "Sonoda syndrome" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00426", "question": "What is associated with IgG4-related pachymeningitis?", "seeds": [ "IgG4-related pachymeningitis" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00427", "question": "What phenotype is associated with Cleft palate-stapes fixation-oligodontia syndrome?", "seeds": [ "Cleft palate-stapes fixation-oligodontia syndrome" ], "gold_answer": "Short face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00428", "question": "What is associated with Abnormal nasal base norphology?", "seeds": [ "Abnormal nasal base norphology" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00429", "question": "What is associated with Defective DNA repair after ultraviolet radiation damage?", "seeds": [ "Defective DNA repair after ultraviolet radiation damage" ], "gold_answer": "Abnormality of DNA repair", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00430", "question": "What is associated with Granulomatous conjunctivitis?", "seeds": [ "Granulomatous conjunctivitis" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00431", "question": "What is associated with Pancreas divisum?", "seeds": [ "Pancreas divisum" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00432", "question": "What phenotype is associated with Spinocerebellar ataxia type 25?", "seeds": [ "Spinocerebellar ataxia type 25" ], "gold_answer": "Spastic dysarthria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00433", "question": "What is associated with Treacher Collins syndrome 3?", "seeds": [ "Treacher Collins syndrome 3" ], "gold_answer": "Aplasia/Hypoplasia of facial bones", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00434", "question": "What is associated with Myxoid liposarcoma?", "seeds": [ "Myxoid liposarcoma" ], "gold_answer": "Liposarcoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00435", "question": "What phenotype is associated with Retinal capillary hemangioma?", "seeds": [ "Retinal capillary hemangioma" ], "gold_answer": "Depression", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00436", "question": "What is associated with Tessier number 2 facial cleft?", "seeds": [ "Tessier number 2 facial cleft" ], "gold_answer": "Tessier cleft", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00437", "question": "What is associated with Synostosis of second metacarpal-trapezoid?", "seeds": [ "Synostosis of second metacarpal-trapezoid" ], "gold_answer": "Carpometacarpal synostosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00438", "question": "What is associated with Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay?", "seeds": [ "Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00439", "question": "What is associated with Aborted sudden cardiac death?", "seeds": [ "Aborted sudden cardiac death" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00440", "question": "What is associated with Duane-Radial ray syndrome?", "seeds": [ "Duane-Radial ray syndrome" ], "gold_answer": "Airway obstruction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00441", "question": "What phenotype is associated with Brachydactyly type E?", "seeds": [ "Brachydactyly type E" ], "gold_answer": "Short distal phalanx of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00442", "question": "What is associated with Angioedema, hereditary, 7?", "seeds": [ "Angioedema, hereditary, 7" ], "gold_answer": "Abnormal nail morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00443", "question": "What is associated with Haab striae?", "seeds": [ "Haab striae" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00444", "question": "What is associated with Upper limb peromelia?", "seeds": [ "Upper limb peromelia" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00445", "question": "What is associated with Mediastinal lymphadenopathy?", "seeds": [ "Mediastinal lymphadenopathy" ], "gold_answer": "Abnormal mediastinum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00446", "question": "What is associated with Abnormal telomere morphology?", "seeds": [ "Abnormal telomere morphology" ], "gold_answer": "Abnormal cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00447", "question": "What is associated with Deafness and myopia?", "seeds": [ "Deafness and myopia" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00448", "question": "What is associated with Intellectual disability?", "seeds": [ "Intellectual disability" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00449", "question": "What is associated with Aplasia/Hypoplasia involving the femoral head and neck?", "seeds": [ "Aplasia/Hypoplasia involving the femoral head and neck" ], "gold_answer": "Aplasia/Hypoplasia involving the pelvis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00450", "question": "What is associated with Temporomandibular joint dislocation?", "seeds": [ "Temporomandibular joint dislocation" ], "gold_answer": "Abnormal mandible morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00451", "question": "What is associated with Night gasping?", "seeds": [ "Night gasping" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00452", "question": "What phenotype is associated with Hypoparathyroidism-retardation-dysmorphism syndrome?", "seeds": [ "Hypoparathyroidism-retardation-dysmorphism syndrome" ], "gold_answer": "Depressed nasal bridge", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00453", "question": "What is associated with Aplasia/Hypoplasia of the testes?", "seeds": [ "Aplasia/Hypoplasia of the testes" ], "gold_answer": "Abnormality of the testis size", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00454", "question": "What is associated with Broad secondary alveolar ridge?", "seeds": [ "Broad secondary alveolar ridge" ], "gold_answer": "Broad alveolar ridges", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00455", "question": "What phenotype is associated with Acute radiation syndrome?", "seeds": [ "Acute radiation syndrome" ], "gold_answer": "Skin ulcer", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00456", "question": "What is associated with Serpentine skin location?", "seeds": [ "Serpentine skin location" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00457", "question": "What is associated with Arthralgia/arthritis?", "seeds": [ "Arthralgia/arthritis" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00458", "question": "What is associated with Nasal dryness?", "seeds": [ "Nasal dryness" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00459", "question": "What is associated with Globe retraction and deviation on abduction?", "seeds": [ "Globe retraction and deviation on abduction" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00460", "question": "What is associated with Salmonella osteomyelitis?", "seeds": [ "Salmonella osteomyelitis" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00461", "question": "What is associated with X-linked Charcot-Marie-Tooth disease type 2?", "seeds": [ "X-linked Charcot-Marie-Tooth disease type 2" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00462", "question": "What is associated with Intraoral laceration?", "seeds": [ "Intraoral laceration" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00463", "question": "What is associated with Strabismus, susceptibility to?", "seeds": [ "Strabismus, susceptibility to" ], "gold_answer": "Heterotropia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00464", "question": "What is associated with Hypoautofluorescent macular lesion?", "seeds": [ "Hypoautofluorescent macular lesion" ], "gold_answer": "Abnormal fundus autofluorescence imaging", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00465", "question": "What is associated with Neurodevelopmental disorder with hypotonia and seizures?", "seeds": [ "Neurodevelopmental disorder with hypotonia and seizures" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00466", "question": "What is associated with Rheumatoid nodule?", "seeds": [ "Rheumatoid nodule" ], "gold_answer": "Skin nodule", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00467", "question": "What is associated with Rounded atelectasis?", "seeds": [ "Rounded atelectasis" ], "gold_answer": "Atelectasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00468", "question": "What is associated with Colitis?", "seeds": [ "Colitis" ], "gold_answer": "Inflammation of the large intestine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00469", "question": "What is associated with Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome?", "seeds": [ "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00470", "question": "What is associated with Impaired proprioception?", "seeds": [ "Impaired proprioception" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00471", "question": "What is associated with Juvenile nephropathic cystinosis?", "seeds": [ "Juvenile nephropathic cystinosis" ], "gold_answer": "Elevated tissue non-specific alkaline phosphatase", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00472", "question": "What is associated with Lumbar hemivertebrae?", "seeds": [ "Lumbar hemivertebrae" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00473", "question": "What is associated with Testicular fibrosis?", "seeds": [ "Testicular fibrosis" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00474", "question": "What is associated with Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome?", "seeds": [ "Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00475", "question": "What is associated with Distinctive finding?", "seeds": [ "Distinctive finding" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00476", "question": "What phenotype is associated with Familial tumoral calcinosis?", "seeds": [ "Familial tumoral calcinosis" ], "gold_answer": "Splenomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00477", "question": "What is associated with Pseudobulbar affect?", "seeds": [ "Pseudobulbar affect" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00478", "question": "What is associated with Urocanic aciduria?", "seeds": [ "Urocanic aciduria" ], "gold_answer": "Hyperreflexia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00479", "question": "What is associated with Primary unilateral adrenal hyperplasia?", "seeds": [ "Primary unilateral adrenal hyperplasia" ], "gold_answer": "Abnormal blood monovalent inorganic cation concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00480", "question": "What is associated with Enlarged epiphysis of the middle phalanx of the 2nd finger?", "seeds": [ "Enlarged epiphysis of the middle phalanx of the 2nd finger" ], "gold_answer": "Abnormality of the phalanges of the 2nd finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00481", "question": "What is associated with Recurrent herpes?", "seeds": [ "Recurrent herpes" ], "gold_answer": "Unusual virus reactivation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00482", "question": "What is associated with Mandibular osteolysis?", "seeds": [ "Mandibular osteolysis" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00483", "question": "What is associated with Increased circulating adrenic acid concentration?", "seeds": [ "Increased circulating adrenic acid concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00484", "question": "What is associated with Everted upper lip vermilion?", "seeds": [ "Everted upper lip vermilion" ], "gold_answer": "Abnormal upper lip morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00485", "question": "What is associated with Central Y-shaped metacarpal?", "seeds": [ "Central Y-shaped metacarpal" ], "gold_answer": "Y-shaped metacarpals", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00486", "question": "What is associated with Clinodactyly of the 4th toe?", "seeds": [ "Clinodactyly of the 4th toe" ], "gold_answer": "Clinodactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00487", "question": "What is associated with Fibrochondrogenesis 1?", "seeds": [ "Fibrochondrogenesis 1" ], "gold_answer": "Abnormality of the amniotic fluid", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00488", "question": "What is associated with Torsion of appendix of testis?", "seeds": [ "Torsion of appendix of testis" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00489", "question": "What is associated with Decreased total leukocyte count?", "seeds": [ "Decreased total leukocyte count" ], "gold_answer": "Abnormal leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00490", "question": "What phenotype is associated with Deafness, autosomal recessive 14?", "seeds": [ "Deafness, autosomal recessive 14" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00491", "question": "What is associated with Exposure to inhaled lipids?", "seeds": [ "Exposure to inhaled lipids" ], "gold_answer": "Exposure history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00492", "question": "What is associated with Abnormality of umbilical vein blood flow?", "seeds": [ "Abnormality of umbilical vein blood flow" ], "gold_answer": "Abnormal umbilical blood flow measurement", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00493", "question": "What is associated with Abnormal glucose-6-phosphate dehydrogenase level in leukocytes?", "seeds": [ "Abnormal glucose-6-phosphate dehydrogenase level in leukocytes" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00494", "question": "What is associated with Epidermal nevus?", "seeds": [ "Epidermal nevus" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00495", "question": "What is associated with Abnormally loud pulmonic component of the second heart sound?", "seeds": [ "Abnormally loud pulmonic component of the second heart sound" ], "gold_answer": "Abnormal heart sound", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00496", "question": "What is associated with Drug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included?", "seeds": [ "Drug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00497", "question": "What is associated with Recurrent Serratia marcescens infections?", "seeds": [ "Recurrent Serratia marcescens infections" ], "gold_answer": "Recurrent bacterial infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00498", "question": "What is associated with Spinocerebellar ataxia, autosomal recessive 34?", "seeds": [ "Spinocerebellar ataxia, autosomal recessive 34" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00499", "question": "What is associated with Dark yellow urine?", "seeds": [ "Dark yellow urine" ], "gold_answer": "Abnormal macroscopic urine appearance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00500", "question": "What is associated with Viremia?", "seeds": [ "Viremia" ], "gold_answer": "Bloodstream infectious agent", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00501", "question": "What phenotype is associated with Peho syndrome?", "seeds": [ "Peho syndrome" ], "gold_answer": "Edema", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00502", "question": "What is associated with Aplasia/hypoplasia involving bones of the hand?", "seeds": [ "Aplasia/hypoplasia involving bones of the hand" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00503", "question": "What is associated with Nemaline myopathy 9?", "seeds": [ "Nemaline myopathy 9" ], "gold_answer": "Craniofacial cleft", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00504", "question": "What is associated with Radial head subluxation?", "seeds": [ "Radial head subluxation" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00505", "question": "What is associated with Finger pulse oximetry lower than arterial blood gas analysis measurement of oxygen saturation?", "seeds": [ "Finger pulse oximetry lower than arterial blood gas analysis measurement of oxygen saturation" ], "gold_answer": "Abnormal arterial physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00506", "question": "What is associated with Rudimentary to absent tibiae?", "seeds": [ "Rudimentary to absent tibiae" ], "gold_answer": "Aplasia/hypoplasia involving bones of the lower limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00507", "question": "What is associated with Peeling skin syndrome 2?", "seeds": [ "Peeling skin syndrome 2" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00508", "question": "What is associated with Twin pregnancy?", "seeds": [ "Twin pregnancy" ], "gold_answer": "Pregnancy history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00509", "question": "What is associated with Decreased number of large peripheral myelinated nerve fibers?", "seeds": [ "Decreased number of large peripheral myelinated nerve fibers" ], "gold_answer": "Abnormal myelination", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00510", "question": "What is associated with Increased circulating hypoxanthine concentration?", "seeds": [ "Increased circulating hypoxanthine concentration" ], "gold_answer": "Abnormal circulating nucleobase concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00511", "question": "What phenotype is associated with Thymoma?", "seeds": [ "Thymoma" ], "gold_answer": "Scleroderma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00512", "question": "What is associated with Absent epiphysis of the middle phalanx of the 2nd finger?", "seeds": [ "Absent epiphysis of the middle phalanx of the 2nd finger" ], "gold_answer": "Absent epiphyses of the middle phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00513", "question": "What is associated with Hemolytic-uremic syndrome?", "seeds": [ "Hemolytic-uremic syndrome" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00514", "question": "What is associated with Mesangial hyaline deposition?", "seeds": [ "Mesangial hyaline deposition" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00515", "question": "What is associated with Limited lateral neck flexion?", "seeds": [ "Limited lateral neck flexion" ], "gold_answer": "Abnormal neck physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00516", "question": "What is associated with Increased HDL3a concentration?", "seeds": [ "Increased HDL3a concentration" ], "gold_answer": "Abnormal HDL subfraction concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00517", "question": "What is associated with Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome?", "seeds": [ "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" ], "gold_answer": "Abnormality of the spleen", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00518", "question": "What is associated with Abnormal eyelid physiology?", "seeds": [ "Abnormal eyelid physiology" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00519", "question": "What is associated with Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features?", "seeds": [ "Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00520", "question": "What is associated with Mass on thoracic imaging?", "seeds": [ "Mass on thoracic imaging" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00521", "question": "What is associated with Léri-Weill dyschondrosteosis?", "seeds": [ "Léri-Weill dyschondrosteosis" ], "gold_answer": "Abnormal nasal bridge morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00522", "question": "What is associated with Ectodermal dysplasia 4, hair/nail type?", "seeds": [ "Ectodermal dysplasia 4, hair/nail type" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00523", "question": "What is associated with Hypoplasia of the ear cartilage?", "seeds": [ "Hypoplasia of the ear cartilage" ], "gold_answer": "Aplasia/Hypoplasia of the external ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00524", "question": "What is associated with Muscular ventricular septal aneurysm?", "seeds": [ "Muscular ventricular septal aneurysm" ], "gold_answer": "Abnormal ventricular septum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00525", "question": "What is associated with Decreased renal tubular phosphate excretion?", "seeds": [ "Decreased renal tubular phosphate excretion" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00526", "question": "What is associated with Autosomal erythropoietic protoporphyria?", "seeds": [ "Autosomal erythropoietic protoporphyria" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00527", "question": "What is associated with Colonic eosinophilia?", "seeds": [ "Colonic eosinophilia" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00528", "question": "What is associated with Abnormal spleen morphology?", "seeds": [ "Abnormal spleen morphology" ], "gold_answer": "Abnormality of the lymphatic system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00529", "question": "What phenotype is associated with Basal ganglia calcification, idiopathic, 10, autosomal recessive?", "seeds": [ "Basal ganglia calcification, idiopathic, 10, autosomal recessive" ], "gold_answer": "Antinuclear antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00530", "question": "What is associated with Spermatogenic failure 87?", "seeds": [ "Spermatogenic failure 87" ], "gold_answer": "Abnormal sperm morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00531", "question": "What phenotype is associated with Breasts and/or nipples, aplasia or hypoplasia of, 2?", "seeds": [ "Breasts and/or nipples, aplasia or hypoplasia of, 2" ], "gold_answer": "Hypoplastic nipples", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00532", "question": "What is associated with Decreased blood drug concentration?", "seeds": [ "Decreased blood drug concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00533", "question": "What is associated with Decreased circulating apolipoprotein E concentration?", "seeds": [ "Decreased circulating apolipoprotein E concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00534", "question": "What is associated with Oculogyric crisis?", "seeds": [ "Oculogyric crisis" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00535", "question": "What is associated with Streak ovary?", "seeds": [ "Streak ovary" ], "gold_answer": "Hypoplasia of the ovary", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00536", "question": "What is associated with Exposure to repetitive hand impact?", "seeds": [ "Exposure to repetitive hand impact" ], "gold_answer": "Exposure history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00537", "question": "What is associated with Familial hyperinflammatory lymphoproliferative immunodeficiency?", "seeds": [ "Familial hyperinflammatory lymphoproliferative immunodeficiency" ], "gold_answer": "NCKAP1L", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_00538", "question": "What is associated with Lateral clavicle hook?", "seeds": [ "Lateral clavicle hook" ], "gold_answer": "Abnormal clavicle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00539", "question": "What phenotype is associated with Spinocerebellar ataxia type 19/22?", "seeds": [ "Spinocerebellar ataxia type 19/22" ], "gold_answer": "Ataxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00540", "question": "What is associated with Prolonged REM sleep?", "seeds": [ "Prolonged REM sleep" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00541", "question": "What is associated with Decreased glucose-6-phosphate dehydrogenase level in dried blood spot?", "seeds": [ "Decreased glucose-6-phosphate dehydrogenase level in dried blood spot" ], "gold_answer": "Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00542", "question": "What is associated with Increased density of left ventricular trabeculae?", "seeds": [ "Increased density of left ventricular trabeculae" ], "gold_answer": "Abnormal morphology of left ventricular trabeculae", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00543", "question": "What is associated with Phosphoserine aminotransferase deficiency, infantile/juvenile form?", "seeds": [ "Phosphoserine aminotransferase deficiency, infantile/juvenile form" ], "gold_answer": "Aplasia/Hypoplasia of the mandible", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00544", "question": "What is associated with Microcephaly 3, primary, autosomal recessive?", "seeds": [ "Microcephaly 3, primary, autosomal recessive" ], "gold_answer": "Functional abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00545", "question": "What is associated with Increased level of D-threitol in urine?", "seeds": [ "Increased level of D-threitol in urine" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00546", "question": "What is associated with Deafness, autosomal dominant 87?", "seeds": [ "Deafness, autosomal dominant 87" ], "gold_answer": "Incomplete partition of the cochlea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00547", "question": "What is associated with Muscle hypertrophy of the lower extremities?", "seeds": [ "Muscle hypertrophy of the lower extremities" ], "gold_answer": "Skeletal muscle hypertrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00548", "question": "What is associated with Segmental hypoplasia of liver?", "seeds": [ "Segmental hypoplasia of liver" ], "gold_answer": "Aplasia/Hypoplasia of the liver", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00549", "question": "What is associated with WAGR syndrome?", "seeds": [ "WAGR syndrome" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00550", "question": "What is associated with Hypogonadotropic hypogonadism 26 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 26 with or without anosmia" ], "gold_answer": "Maladaptive fear-related cognitions", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00551", "question": "What phenotype is associated with Cerebrooculofacioskeletal syndrome 2?", "seeds": [ "Cerebrooculofacioskeletal syndrome 2" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00552", "question": "What is associated with Polyposis syndrome, hereditary mixed, 1?", "seeds": [ "Polyposis syndrome, hereditary mixed, 1" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00553", "question": "What is associated with SPONASTRIME dysplasia?", "seeds": [ "SPONASTRIME dysplasia" ], "gold_answer": "Abnormal male urethral meatus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00554", "question": "What is associated with Joubert syndrome 31?", "seeds": [ "Joubert syndrome 31" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00555", "question": "What is associated with 2:1 atrioventricular block?", "seeds": [ "2:1 atrioventricular block" ], "gold_answer": "Abnormal atrioventricular conduction", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00556", "question": "What is associated with Cleft palate-lateral synechia syndrome?", "seeds": [ "Cleft palate-lateral synechia syndrome" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00557", "question": "What is associated with Bile acid synthesis defect, congenital, 2?", "seeds": [ "Bile acid synthesis defect, congenital, 2" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00558", "question": "What is associated with Megalopapilla?", "seeds": [ "Megalopapilla" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00559", "question": "What is associated with Triangular epiphyses of the 5th finger?", "seeds": [ "Triangular epiphyses of the 5th finger" ], "gold_answer": "Abnormality of the epiphyses of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00560", "question": "What is associated with Lateral epicondylitis of the elbow?", "seeds": [ "Lateral epicondylitis of the elbow" ], "gold_answer": "Abnormality of upper limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00561", "question": "What is associated with Pruritis on abdomen?", "seeds": [ "Pruritis on abdomen" ], "gold_answer": "Abnormality of skin physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00562", "question": "What is associated with Developmental and epileptic encephalopathy 14?", "seeds": [ "Developmental and epileptic encephalopathy 14" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00563", "question": "What is associated with Eosinophilic pneumonia?", "seeds": [ "Eosinophilic pneumonia" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00564", "question": "What is associated with Increased level of N-acetylneuraminic acid in urine?", "seeds": [ "Increased level of N-acetylneuraminic acid in urine" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00565", "question": "What is associated with Auricular pit?", "seeds": [ "Auricular pit" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00566", "question": "What phenotype is associated with Pearson marrow-pancreas syndrome?", "seeds": [ "Pearson marrow-pancreas syndrome" ], "gold_answer": "Chronic diarrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00567", "question": "What is associated with Senior-Loken syndrome 6?", "seeds": [ "Senior-Loken syndrome 6" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00568", "question": "What is associated with Dyskeratosis congenita, autosomal recessive, 2?", "seeds": [ "Dyskeratosis congenita, autosomal recessive, 2" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00569", "question": "What is associated with Increased cerebral lipofuscin?", "seeds": [ "Increased cerebral lipofuscin" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00570", "question": "What is associated with Interstitial pneumonitis?", "seeds": [ "Interstitial pneumonitis" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00571", "question": "What is associated with Hypoplasia of the primary teeth?", "seeds": [ "Hypoplasia of the primary teeth" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00572", "question": "What is associated with Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity?", "seeds": [ "Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00573", "question": "What is associated with Abnormal circulating beta globulin concentration?", "seeds": [ "Abnormal circulating beta globulin concentration" ], "gold_answer": "Abnormal circulating globulin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00574", "question": "What is associated with Decreased circulating dehydroepiandrosterone concentration?", "seeds": [ "Decreased circulating dehydroepiandrosterone concentration" ], "gold_answer": "Abnormal circulating dehydroepiandrosterone concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00575", "question": "What is associated with Glomerular amyloid subepithelial deposits?", "seeds": [ "Glomerular amyloid subepithelial deposits" ], "gold_answer": "Fibrillar glomerular subepithelial deposits", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00576", "question": "What phenotype is associated with Acropectoral syndrome?", "seeds": [ "Acropectoral syndrome" ], "gold_answer": "Preaxial hand polydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00577", "question": "What is associated with Dental crowding?", "seeds": [ "Dental crowding" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00578", "question": "What phenotype is associated with Dystonia 30?", "seeds": [ "Dystonia 30" ], "gold_answer": "Hypothalamic hamartoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00579", "question": "What is associated with Cross-fusion of the forearm bones?", "seeds": [ "Cross-fusion of the forearm bones" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00580", "question": "What is associated with Pediatric-onset Graves disease?", "seeds": [ "Pediatric-onset Graves disease" ], "gold_answer": "Abnormal fetal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00581", "question": "What is associated with Positive treponema pallidum PCR test in the blood circulation?", "seeds": [ "Positive treponema pallidum PCR test in the blood circulation" ], "gold_answer": "Positive bloodstream nucleic acid pathogen test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00582", "question": "What is associated with Glomerular endothelium swelling?", "seeds": [ "Glomerular endothelium swelling" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00583", "question": "What is associated with Renal cortical cysts?", "seeds": [ "Renal cortical cysts" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00584", "question": "What is associated with Oculodental syndrome, Rutherfurd type?", "seeds": [ "Oculodental syndrome, Rutherfurd type" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00585", "question": "What phenotype is associated with Systemic lupus erythematosus 17?", "seeds": [ "Systemic lupus erythematosus 17" ], "gold_answer": "Raynaud phenomenon", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00586", "question": "What is associated with Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency?", "seeds": [ "Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00587", "question": "What is associated with Reduced blood 5-methyltetrahydrofolate level?", "seeds": [ "Reduced blood 5-methyltetrahydrofolate level" ], "gold_answer": "Abnormality of folate metabolism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00588", "question": "What is associated with Longitudinal vaginal septum?", "seeds": [ "Longitudinal vaginal septum" ], "gold_answer": "Abnormal morphology of female internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00589", "question": "What is associated with Neuropathy, hereditary sensory and autonomic, type VIII?", "seeds": [ "Neuropathy, hereditary sensory and autonomic, type VIII" ], "gold_answer": "Reduced tendon reflexes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00590", "question": "What phenotype is associated with Microcephaly, epilepsy, and diabetes syndrome 2?", "seeds": [ "Microcephaly, epilepsy, and diabetes syndrome 2" ], "gold_answer": "Bilateral tonic-clonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00591", "question": "What is associated with Isosexual precocious puberty?", "seeds": [ "Isosexual precocious puberty" ], "gold_answer": "Precocious puberty", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00592", "question": "What is associated with Hypotrichosis 14?", "seeds": [ "Hypotrichosis 14" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00593", "question": "What is associated with Porphyria due to ALA dehydratase deficiency?", "seeds": [ "Porphyria due to ALA dehydratase deficiency" ], "gold_answer": "Cognitive impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00594", "question": "What is associated with Curved 1st metacarpal?", "seeds": [ "Curved 1st metacarpal" ], "gold_answer": "Abnormal 1st metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00595", "question": "What phenotype is associated with Silver-Russell syndrome due to 11p15 microduplication?", "seeds": [ "Silver-Russell syndrome due to 11p15 microduplication" ], "gold_answer": "Prominent forehead", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00596", "question": "What is associated with Pulmonary valve defects?", "seeds": [ "Pulmonary valve defects" ], "gold_answer": "Abnormal heart valve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00597", "question": "What is associated with Neurodevelopmental disorder with hearing loss and spasticity?", "seeds": [ "Neurodevelopmental disorder with hearing loss and spasticity" ], "gold_answer": "Leukoencephalopathy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00598", "question": "What is associated with Glial remnants anterior to the optic disc?", "seeds": [ "Glial remnants anterior to the optic disc" ], "gold_answer": "Remnants of the hyaloid vascular system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00599", "question": "What is associated with Cornea verticillata?", "seeds": [ "Cornea verticillata" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00600", "question": "What phenotype is associated with Majeed syndrome?", "seeds": [ "Majeed syndrome" ], "gold_answer": "Elevated erythrocyte sedimentation rate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00601", "question": "What is associated with Zttk syndrome?", "seeds": [ "Zttk syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00602", "question": "What is associated with Small intestinal polyp?", "seeds": [ "Small intestinal polyp" ], "gold_answer": "Abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00603", "question": "What is associated with Growth retardation, impaired intellectual development, hypotonia, and hepatopathy?", "seeds": [ "Growth retardation, impaired intellectual development, hypotonia, and hepatopathy" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00604", "question": "What is associated with Pace of progression?", "seeds": [ "Pace of progression" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00605", "question": "What is associated with Hyaline membranes?", "seeds": [ "Hyaline membranes" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00606", "question": "What is associated with Abnormality of lower limb joint?", "seeds": [ "Abnormality of lower limb joint" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00607", "question": "What is associated with Sclerosis of hand bones with transverse striations?", "seeds": [ "Sclerosis of hand bones with transverse striations" ], "gold_answer": "Irregular sclerosis of hand bones", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00608", "question": "What is associated with Radioulnar synostosis-microcephaly-scoliosis syndrome?", "seeds": [ "Radioulnar synostosis-microcephaly-scoliosis syndrome" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00609", "question": "What is associated with Duplication of the middle phalanx of the 2nd finger?", "seeds": [ "Duplication of the middle phalanx of the 2nd finger" ], "gold_answer": "Abnormal proximal phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00610", "question": "What is associated with Jalili syndrome?", "seeds": [ "Jalili syndrome" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00611", "question": "What is associated with Anti-21-hydroxylase antibody positivity?", "seeds": [ "Anti-21-hydroxylase antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00612", "question": "What is associated with Renal hypodysplasia/aplasia 1?", "seeds": [ "Renal hypodysplasia/aplasia 1" ], "gold_answer": "Abnormal ureter physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00613", "question": "What is associated with Mediosternal, longitudinal streak of hypopigmentation?", "seeds": [ "Mediosternal, longitudinal streak of hypopigmentation" ], "gold_answer": "Hypopigmented streaks", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00614", "question": "What phenotype is associated with Anemia, hypochromic microcytic, with iron overload 1?", "seeds": [ "Anemia, hypochromic microcytic, with iron overload 1" ], "gold_answer": "Increased circulating iron concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00615", "question": "What is associated with Aorto-ventricular tunnel?", "seeds": [ "Aorto-ventricular tunnel" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00616", "question": "What is associated with Hyperlysinemia?", "seeds": [ "Hyperlysinemia" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00617", "question": "What phenotype is associated with Foveal hypoplasia-presenile cataract syndrome?", "seeds": [ "Foveal hypoplasia-presenile cataract syndrome" ], "gold_answer": "Generalized hyperpigmentation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00618", "question": "What is associated with Autosomal recessive spastic paraplegia type 83?", "seeds": [ "Autosomal recessive spastic paraplegia type 83" ], "gold_answer": "HPDL", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_00619", "question": "What is associated with Pectoral muscle hypoplasia/aplasia?", "seeds": [ "Pectoral muscle hypoplasia/aplasia" ], "gold_answer": "Abnormality of the musculature of the limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00620", "question": "What is associated with Dimple on nasal tip?", "seeds": [ "Dimple on nasal tip" ], "gold_answer": "Abnormal external nose morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00621", "question": "What is associated with Antalgic gait?", "seeds": [ "Antalgic gait" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00622", "question": "What is associated with Subfoveal choroidal neovascularization?", "seeds": [ "Subfoveal choroidal neovascularization" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00623", "question": "What is associated with Macroprolactinoma?", "seeds": [ "Macroprolactinoma" ], "gold_answer": "Neoplasm of the anterior pituitary", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00624", "question": "What is associated with Exocrine pancreatic insufficiency?", "seeds": [ "Exocrine pancreatic insufficiency" ], "gold_answer": "Abnormality of exocrine pancreas physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00625", "question": "What is associated with Large central visual field defect?", "seeds": [ "Large central visual field defect" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00626", "question": "What is associated with Anti-streptococcus deoxyribonuclease-B antibody positivity?", "seeds": [ "Anti-streptococcus deoxyribonuclease-B antibody positivity" ], "gold_answer": "Bloodstream antibacterial antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00627", "question": "What is associated with Spinocerebellar ataxia type 32?", "seeds": [ "Spinocerebellar ataxia type 32" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00628", "question": "What is associated with Multiple eyelid margin cysts?", "seeds": [ "Multiple eyelid margin cysts" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00629", "question": "What is associated with Bilateral tonic-clonic seizure?", "seeds": [ "Bilateral tonic-clonic seizure" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00630", "question": "What phenotype is associated with Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum?", "seeds": [ "Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00631", "question": "What is associated with Spinocerebellar ataxia type 13?", "seeds": [ "Spinocerebellar ataxia type 13" ], "gold_answer": "Supranuclear gaze palsy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00632", "question": "What is associated with Esophageal ulceration?", "seeds": [ "Esophageal ulceration" ], "gold_answer": "Abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00633", "question": "What is associated with Ceroid lipofuscinosis, neuronal, 10?", "seeds": [ "Ceroid lipofuscinosis, neuronal, 10" ], "gold_answer": "Cognitive impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00634", "question": "What is associated with Dyskinesia, seizures, and intellectual developmental disorder?", "seeds": [ "Dyskinesia, seizures, and intellectual developmental disorder" ], "gold_answer": "Abnormal affect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00635", "question": "What is associated with Abnormal thyroid morphology?", "seeds": [ "Abnormal thyroid morphology" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00636", "question": "What is associated with Abnormal circulating interleukin 12 concentration?", "seeds": [ "Abnormal circulating interleukin 12 concentration" ], "gold_answer": "Abnormal immune serum protein physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00637", "question": "What is associated with Venom-induced anaphylaxis?", "seeds": [ "Venom-induced anaphylaxis" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00638", "question": "What is associated with Atrophic gastritis?", "seeds": [ "Atrophic gastritis" ], "gold_answer": "Abnormal stomach morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00639", "question": "What is associated with Elevated circulating C-triol concentration?", "seeds": [ "Elevated circulating C-triol concentration" ], "gold_answer": "Abnormal circulating lipid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00640", "question": "What is associated with Ultra-low vision with retained light perception?", "seeds": [ "Ultra-low vision with retained light perception" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00641", "question": "What is associated with Systemic autoinflammation?", "seeds": [ "Systemic autoinflammation" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00642", "question": "What is associated with Tracheomalacia?", "seeds": [ "Tracheomalacia" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00643", "question": "What is associated with Severely reduced left ventricular ejection fraction?", "seeds": [ "Severely reduced left ventricular ejection fraction" ], "gold_answer": "Left ventricular systolic dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00644", "question": "What is associated with Contractures of the distal interphalangeal joint of the 5th toe?", "seeds": [ "Contractures of the distal interphalangeal joint of the 5th toe" ], "gold_answer": "Abnormal fifth toe morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00645", "question": "What is associated with Pulmonary thromboembolism?", "seeds": [ "Pulmonary thromboembolism" ], "gold_answer": "Thromboembolism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00646", "question": "What is associated with Anomalous origin of left subclavian artery?", "seeds": [ "Anomalous origin of left subclavian artery" ], "gold_answer": "Abnormal subclavian artery morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00647", "question": "What is associated with Diabetes mellitus, noninsulin-dependent?", "seeds": [ "Diabetes mellitus, noninsulin-dependent" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00648", "question": "What is associated with Elevated myocardial iron load?", "seeds": [ "Elevated myocardial iron load" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00649", "question": "What is associated with Increased CSF valine concentration?", "seeds": [ "Increased CSF valine concentration" ], "gold_answer": "Abnormal CSF amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00650", "question": "What is associated with Reduced erythrocyte inosine triphosphatase activity?", "seeds": [ "Reduced erythrocyte inosine triphosphatase activity" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00651", "question": "What is associated with Decreased complex N-glycan level?", "seeds": [ "Decreased complex N-glycan level" ], "gold_answer": "Abnormal complex N-glycan level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00652", "question": "What phenotype is associated with Retinopathy of prematurity stage 5a?", "seeds": [ "Retinopathy of prematurity stage 5a" ], "gold_answer": "Abnormal macular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00653", "question": "What is associated with Extrahepatic bile duct fibrosis?", "seeds": [ "Extrahepatic bile duct fibrosis" ], "gold_answer": "Biliary tract abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00654", "question": "What phenotype is associated with VACTERL with hydrocephalus?", "seeds": [ "VACTERL with hydrocephalus" ], "gold_answer": "Hip dislocation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00655", "question": "What is associated with Cholestasis?", "seeds": [ "Cholestasis" ], "gold_answer": "Abnormality of the abdominal organs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00656", "question": "What is associated with Increased circulating immunoglobulin concentration?", "seeds": [ "Increased circulating immunoglobulin concentration" ], "gold_answer": "Abnormality of humoral immunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00657", "question": "What phenotype is associated with Solitary bone cyst?", "seeds": [ "Solitary bone cyst" ], "gold_answer": "Abnormality of tibia morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00658", "question": "What phenotype is associated with Robin sequence with cleft mandible and limb anomalies?", "seeds": [ "Robin sequence with cleft mandible and limb anomalies" ], "gold_answer": "Short 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00659", "question": "What is associated with Abnormality of the middle ear?", "seeds": [ "Abnormality of the middle ear" ], "gold_answer": "Abnormality of the ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00660", "question": "What is associated with Cardiomyopathy, dilated, 2F?", "seeds": [ "Cardiomyopathy, dilated, 2F" ], "gold_answer": "Ventricular arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00661", "question": "What is associated with Global developmental delay-high pain tolerance-intellectual disability syndrome?", "seeds": [ "Global developmental delay-high pain tolerance-intellectual disability syndrome" ], "gold_answer": "DEAF1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_00662", "question": "What is associated with Jaw swelling?", "seeds": [ "Jaw swelling" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00663", "question": "What phenotype is associated with Porokeratosis 9, multiple types?", "seeds": [ "Porokeratosis 9, multiple types" ], "gold_answer": "Porokeratosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00664", "question": "What is associated with Radially deviated wrists?", "seeds": [ "Radially deviated wrists" ], "gold_answer": "Deviation of the hand or of fingers of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00665", "question": "What is associated with Large cafe-au-lait macules with irregular margins?", "seeds": [ "Large cafe-au-lait macules with irregular margins" ], "gold_answer": "Hypermelanotic macule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00666", "question": "What phenotype is associated with Myopathy with extrapyramidal signs?", "seeds": [ "Myopathy with extrapyramidal signs" ], "gold_answer": "Peripheral axonal neuropathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00667", "question": "What is associated with Transient bullous dermolysis of the newborn?", "seeds": [ "Transient bullous dermolysis of the newborn" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00668", "question": "What is associated with Stippled calcification of the elbow?", "seeds": [ "Stippled calcification of the elbow" ], "gold_answer": "Abnormality of the elbow", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00669", "question": "What is associated with Abnormality of the thyroid gland?", "seeds": [ "Abnormality of the thyroid gland" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00670", "question": "What is associated with Upper airway obstruction?", "seeds": [ "Upper airway obstruction" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00671", "question": "What is associated with Corneal dystrophy?", "seeds": [ "Corneal dystrophy" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00672", "question": "What is associated with Elevated blood bismuth concentration?", "seeds": [ "Elevated blood bismuth concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00673", "question": "What is associated with Pseudotrisomy 13 syndrome?", "seeds": [ "Pseudotrisomy 13 syndrome" ], "gold_answer": "GATA4", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_dev_00674", "question": "What phenotype is associated with Retinitis pigmentosa 72?", "seeds": [ "Retinitis pigmentosa 72" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00675", "question": "What is associated with Mitochondrial DNA-associated Leigh syndrome?", "seeds": [ "Mitochondrial DNA-associated Leigh syndrome" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00676", "question": "What phenotype is associated with Metaphyseal chondrodysplasia, Pena type?", "seeds": [ "Metaphyseal chondrodysplasia, Pena type" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00677", "question": "What is associated with Hypernatriuria?", "seeds": [ "Hypernatriuria" ], "gold_answer": "Abnormal urine sodium concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00678", "question": "What phenotype is associated with Spastic paraplegia type 2?", "seeds": [ "Spastic paraplegia type 2" ], "gold_answer": "Pulmonary embolism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00679", "question": "What is associated with Dermatitis herpetiformis?", "seeds": [ "Dermatitis herpetiformis" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00680", "question": "What is associated with Prominent tragus?", "seeds": [ "Prominent tragus" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00681", "question": "What phenotype is associated with Leber optic atrophy, susceptibility to?", "seeds": [ "Leber optic atrophy, susceptibility to" ], "gold_answer": "Leber optic atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00682", "question": "What is associated with Submucous cleft of soft and hard palate?", "seeds": [ "Submucous cleft of soft and hard palate" ], "gold_answer": "Feeding difficulties", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00683", "question": "What is associated with Chronic (near) absent circulating IgG1?", "seeds": [ "Chronic (near) absent circulating IgG1" ], "gold_answer": "Chronic decreased circulating IgG1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00684", "question": "What phenotype is associated with Hypotrichosis 7?", "seeds": [ "Hypotrichosis 7" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00685", "question": "What is associated with Parasagittal parieto-occipital polymicrogyria?", "seeds": [ "Parasagittal parieto-occipital polymicrogyria" ], "gold_answer": "Polymicrogyria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00686", "question": "What is associated with Flared distal tibial metaphysis?", "seeds": [ "Flared distal tibial metaphysis" ], "gold_answer": "Metaphyseal widening", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00687", "question": "What is associated with Medullary peritubular capillary lumen organized thrombi?", "seeds": [ "Medullary peritubular capillary lumen organized thrombi" ], "gold_answer": "Abnormal medullary peritubular capillary morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00688", "question": "What is associated with Fuhrmann syndrome?", "seeds": [ "Fuhrmann syndrome" ], "gold_answer": "WNT7A", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_dev_00689", "question": "What is associated with Skin dimple over apex of long bone angulation?", "seeds": [ "Skin dimple over apex of long bone angulation" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00690", "question": "What phenotype is associated with Ossification of the posterior longitudinal ligament of spine?", "seeds": [ "Ossification of the posterior longitudinal ligament of spine" ], "gold_answer": "Spinal cord compression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00691", "question": "What is associated with Erosive vitreoretinopathy?", "seeds": [ "Erosive vitreoretinopathy" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00692", "question": "What phenotype is associated with Bleeding disorder, platelet-type, 25?", "seeds": [ "Bleeding disorder, platelet-type, 25" ], "gold_answer": "Prolonged bleeding after dental extraction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00693", "question": "What is associated with Increased CSF taurine concentration?", "seeds": [ "Increased CSF taurine concentration" ], "gold_answer": "Abnormal cerebrospinal fluid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00694", "question": "What phenotype is associated with Gastric lymphoma, primary?", "seeds": [ "Gastric lymphoma, primary" ], "gold_answer": "Gastric lymphoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00695", "question": "What phenotype is associated with Cardiomyopathy, dilated, 1cc?", "seeds": [ "Cardiomyopathy, dilated, 1cc" ], "gold_answer": "Increased left ventricular end-diastolic volume", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00696", "question": "What is associated with Trousseau sign?", "seeds": [ "Trousseau sign" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00697", "question": "What is associated with Abnormal morphology of the choroidal vasculature?", "seeds": [ "Abnormal morphology of the choroidal vasculature" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00698", "question": "What is associated with Renal tubular epithelial cell sloughing?", "seeds": [ "Renal tubular epithelial cell sloughing" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00699", "question": "What is associated with Cerebral berry aneurysm?", "seeds": [ "Cerebral berry aneurysm" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00700", "question": "What is associated with EMG: repetitive nerve stimulation abnormality?", "seeds": [ "EMG: repetitive nerve stimulation abnormality" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00701", "question": "What is associated with Hutchinson-Gilford progeria syndrome?", "seeds": [ "Hutchinson-Gilford progeria syndrome" ], "gold_answer": "Increased head circumference", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00702", "question": "What is associated with Elevated circulating vitamin B12 concentration?", "seeds": [ "Elevated circulating vitamin B12 concentration" ], "gold_answer": "Abnormality of vitamin B12 metabolism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00703", "question": "What is associated with Polyclonal elevation of circulating IgA?", "seeds": [ "Polyclonal elevation of circulating IgA" ], "gold_answer": "Increased circulating IgA concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00704", "question": "What is associated with Lipoma of the conjunctiva?", "seeds": [ "Lipoma of the conjunctiva" ], "gold_answer": "Neoplasm of fatty tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00705", "question": "What is associated with Broad phalanges of the 5th finger?", "seeds": [ "Broad phalanges of the 5th finger" ], "gold_answer": "Broad long bones", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00706", "question": "What is associated with Malrotation of small bowel?", "seeds": [ "Malrotation of small bowel" ], "gold_answer": "Abnormal small intestine morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00707", "question": "What phenotype is associated with Craniotubular dysplasia, Ikegawa type?", "seeds": [ "Craniotubular dysplasia, Ikegawa type" ], "gold_answer": "Diaphyseal dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00708", "question": "What is associated with Absent epididymidis?", "seeds": [ "Absent epididymidis" ], "gold_answer": "Abnormal epididymis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00709", "question": "What is associated with Hypoplasia of the ciliary body?", "seeds": [ "Hypoplasia of the ciliary body" ], "gold_answer": "Abnormal uvea morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00710", "question": "What is associated with Shoulder external rotation contracture?", "seeds": [ "Shoulder external rotation contracture" ], "gold_answer": "Shoulder contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00711", "question": "What is associated with Mitochondrial complex III deficiency, nuclear type 9?", "seeds": [ "Mitochondrial complex III deficiency, nuclear type 9" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00712", "question": "What is associated with Complete duplication of the middle phalanges of the hand?", "seeds": [ "Complete duplication of the middle phalanges of the hand" ], "gold_answer": "Duplication of hand bones", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00713", "question": "What is associated with Abnormal circulating interleukin concentration?", "seeds": [ "Abnormal circulating interleukin concentration" ], "gold_answer": "Abnormal immune serum protein physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00714", "question": "What is associated with Radial head fracture?", "seeds": [ "Radial head fracture" ], "gold_answer": "Fractured radius", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00715", "question": "What is associated with Depletion of mitochondrial DNA in liver?", "seeds": [ "Depletion of mitochondrial DNA in liver" ], "gold_answer": "Abnormality of the mitochondrion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00716", "question": "What is associated with Tertiary hyperparathyroidism?", "seeds": [ "Tertiary hyperparathyroidism" ], "gold_answer": "Hyperparathyroidism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00717", "question": "What is associated with Keratan sulfate excretion in urine?", "seeds": [ "Keratan sulfate excretion in urine" ], "gold_answer": "Urinary glycosaminoglycan excretion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00718", "question": "What is associated with Lymphedema, hereditary, II?", "seeds": [ "Lymphedema, hereditary, II" ], "gold_answer": "Abnormality of the lymphatic system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00719", "question": "What is associated with Abnormality of the orbital region?", "seeds": [ "Abnormality of the orbital region" ], "gold_answer": "Abnormality of head or neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00720", "question": "What phenotype is associated with Ossicular malformations, familial?", "seeds": [ "Ossicular malformations, familial" ], "gold_answer": "Abnormality of the middle ear ossicles", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00721", "question": "What is associated with Degeneration of the lateral corticospinal tracts?", "seeds": [ "Degeneration of the lateral corticospinal tracts" ], "gold_answer": "Atrophy/Degeneration involving the corticospinal tracts", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00722", "question": "What is associated with Increased anti-nut food product IgE antibody level?", "seeds": [ "Increased anti-nut food product IgE antibody level" ], "gold_answer": "Increased anti-food allergen IgE antibody level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00723", "question": "What is associated with Entoptic phenomenon?", "seeds": [ "Entoptic phenomenon" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00724", "question": "What is associated with Anti-SUMO-activating enzyme subunit 1 antibody positivity?", "seeds": [ "Anti-SUMO-activating enzyme subunit 1 antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00725", "question": "What is associated with Adrenogenital syndrome?", "seeds": [ "Adrenogenital syndrome" ], "gold_answer": "Puberty and gonadal disorders", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00726", "question": "What is associated with Abnormal pituitary glycoprotein hormone alpha subunit level?", "seeds": [ "Abnormal pituitary glycoprotein hormone alpha subunit level" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00727", "question": "What is associated with Cavitation of the basal ganglia?", "seeds": [ "Cavitation of the basal ganglia" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00728", "question": "What is associated with Panuveitis?", "seeds": [ "Panuveitis" ], "gold_answer": "Uveitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00729", "question": "What is associated with Acute monocytic leukemia?", "seeds": [ "Acute monocytic leukemia" ], "gold_answer": "Abnormal leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00730", "question": "What is associated with Pachyonychia congenita, type 1?", "seeds": [ "Pachyonychia congenita, type 1" ], "gold_answer": "Abnormality of the plantar skin of foot", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00731", "question": "What is associated with Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe?", "seeds": [ "Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe" ], "gold_answer": "Fragmented epiphyses", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00732", "question": "What is associated with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language?", "seeds": [ "Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language" ], "gold_answer": "Abnormal morphology of the nasal alae", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00733", "question": "What phenotype is associated with Focal dermal hypoplasia?", "seeds": [ "Focal dermal hypoplasia" ], "gold_answer": "Corneal erosion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00734", "question": "What is associated with Myopia 5?", "seeds": [ "Myopia 5" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00735", "question": "What phenotype is associated with Spermatogenic failure, X-linked, 6?", "seeds": [ "Spermatogenic failure, X-linked, 6" ], "gold_answer": "Recurrent pneumonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00736", "question": "What is associated with Proximal fifth finger symphalangism?", "seeds": [ "Proximal fifth finger symphalangism" ], "gold_answer": "Abnormal 5th finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00737", "question": "What is associated with Episodic ammonia intoxication?", "seeds": [ "Episodic ammonia intoxication" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00738", "question": "What is associated with Fifth metatarsal apophysitis?", "seeds": [ "Fifth metatarsal apophysitis" ], "gold_answer": "Abnormality of the fifth metatarsal bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00739", "question": "What is associated with Physiological reactivity to cues?", "seeds": [ "Physiological reactivity to cues" ], "gold_answer": "Intrusion symptom", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00740", "question": "What phenotype is associated with Interatrial communication?", "seeds": [ "Interatrial communication" ], "gold_answer": "Atrial flutter", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00741", "question": "What phenotype is associated with Microcephaly 23, primary, autosomal recessive?", "seeds": [ "Microcephaly 23, primary, autosomal recessive" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00742", "question": "What is associated with Extramedullary hematopoiesis?", "seeds": [ "Extramedullary hematopoiesis" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00743", "question": "What is associated with Aplasia of the inferior half of the cerebellar vermis?", "seeds": [ "Aplasia of the inferior half of the cerebellar vermis" ], "gold_answer": "Aplasia/Hypoplasia of the cerebellum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00744", "question": "What is associated with Small pituitary gland?", "seeds": [ "Small pituitary gland" ], "gold_answer": "Abnormal pituitary gland morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00745", "question": "What is associated with Desbuquois dysplasia 2?", "seeds": [ "Desbuquois dysplasia 2" ], "gold_answer": "Abnormal number of teeth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00746", "question": "What is associated with Marfanoid habitus with situs inversus?", "seeds": [ "Marfanoid habitus with situs inversus" ], "gold_answer": "PKD1L1", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_00747", "question": "What is associated with Opposable triphalangeal thumb?", "seeds": [ "Opposable triphalangeal thumb" ], "gold_answer": "Triphalangeal thumb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00748", "question": "What phenotype is associated with Mitochondrial complex IV deficiency, nuclear type 2?", "seeds": [ "Mitochondrial complex IV deficiency, nuclear type 2" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00749", "question": "What is associated with Superficial blush-like subcutaneous fatty lesions?", "seeds": [ "Superficial blush-like subcutaneous fatty lesions" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00750", "question": "What phenotype is associated with Isolated growth hormone deficiency, type II?", "seeds": [ "Isolated growth hormone deficiency, type II" ], "gold_answer": "Decreased response to growth hormone stimulation test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00751", "question": "What is associated with Kniest dysplasia?", "seeds": [ "Kniest dysplasia" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00752", "question": "What is associated with Ectopic anus?", "seeds": [ "Ectopic anus" ], "gold_answer": "Abnormal digestive system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00753", "question": "What is associated with Tetraamelia?", "seeds": [ "Tetraamelia" ], "gold_answer": "Aplasia/hypoplasia of the extremities", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00754", "question": "What is associated with Congenital megaureter?", "seeds": [ "Congenital megaureter" ], "gold_answer": "Abnormality of the ureter", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00755", "question": "What phenotype is associated with ALG6-CDG?", "seeds": [ "ALG6-CDG" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00756", "question": "What is associated with Transitional atrioventricular canal defect?", "seeds": [ "Transitional atrioventricular canal defect" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00757", "question": "What is associated with Osteolysis of talus?", "seeds": [ "Osteolysis of talus" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00758", "question": "What is associated with Neurodegeneration with brain iron accumulation 5?", "seeds": [ "Neurodegeneration with brain iron accumulation 5" ], "gold_answer": "Paraplegia/paraparesis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00759", "question": "What is associated with Incomplete cleft hard palate?", "seeds": [ "Incomplete cleft hard palate" ], "gold_answer": "Orofacial cleft", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00760", "question": "What is associated with Leber congenital amaurosis-3 (LCA3)/Retinitis pigmentosa, juvenile, autosomal recessive?", "seeds": [ "Leber congenital amaurosis-3 (LCA3)/Retinitis pigmentosa, juvenile, autosomal recessive" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00761", "question": "What is associated with Developmental delay, behavioral abnormalities, and neuropsychiatric disorders?", "seeds": [ "Developmental delay, behavioral abnormalities, and neuropsychiatric disorders" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00762", "question": "What is associated with Neoplasm of the outer ear?", "seeds": [ "Neoplasm of the outer ear" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00763", "question": "What is associated with Abnormal amplitude of pattern onset/offset visual evoked potentials?", "seeds": [ "Abnormal amplitude of pattern onset/offset visual evoked potentials" ], "gold_answer": "Abnormality of pattern onset/offset visual evoked potentials", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00764", "question": "What is associated with Thick hair?", "seeds": [ "Thick hair" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00765", "question": "What is associated with Arcuate artery endoarterial foam cell hypercellularity?", "seeds": [ "Arcuate artery endoarterial foam cell hypercellularity" ], "gold_answer": "Abnormal arcuate artery endothelium morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00766", "question": "What is associated with Nivelon-Nivelon-Mabille syndrome?", "seeds": [ "Nivelon-Nivelon-Mabille syndrome" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00767", "question": "What is associated with Abnormality of masticatory muscle?", "seeds": [ "Abnormality of masticatory muscle" ], "gold_answer": "Abnormality of jaw muscles", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00768", "question": "What phenotype is associated with Cholestasis, progressive familial intrahepatic, 10?", "seeds": [ "Cholestasis, progressive familial intrahepatic, 10" ], "gold_answer": "Splenomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00769", "question": "What is associated with Cafe-au-lait spot?", "seeds": [ "Cafe-au-lait spot" ], "gold_answer": "Irregular hyperpigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00770", "question": "What is associated with Elevated circulating hexanoylcarnitine concentration?", "seeds": [ "Elevated circulating hexanoylcarnitine concentration" ], "gold_answer": "Elevated circulating medium-chain acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00771", "question": "What is associated with Mesangial matrix expansion?", "seeds": [ "Mesangial matrix expansion" ], "gold_answer": "Abnormal glomerular mesangial matrix morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00772", "question": "What is associated with Diarrhea 5, with tufting enteropathy, congenital?", "seeds": [ "Diarrhea 5, with tufting enteropathy, congenital" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00773", "question": "What is associated with Transiently decreased total neutrophil count?", "seeds": [ "Transiently decreased total neutrophil count" ], "gold_answer": "Abnormal total neutrophil count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00774", "question": "What is associated with Abnormal forearm morphology?", "seeds": [ "Abnormal forearm morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00775", "question": "What is associated with Legg-Calvé-Perthes disease?", "seeds": [ "Legg-Calvé-Perthes disease" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00776", "question": "What phenotype is associated with Leber hereditary optic neuropathy, autosomal recessive?", "seeds": [ "Leber hereditary optic neuropathy, autosomal recessive" ], "gold_answer": "Retinal telangiectasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00777", "question": "What is associated with Hardikar syndrome?", "seeds": [ "Hardikar syndrome" ], "gold_answer": "Nasolacrimal duct obstruction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00778", "question": "What is associated with Sleep attack?", "seeds": [ "Sleep attack" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00779", "question": "What is associated with Muscular dystrophy, Barnes type?", "seeds": [ "Muscular dystrophy, Barnes type" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00780", "question": "What is associated with Cone-shaped epiphyses of the 4th toe?", "seeds": [ "Cone-shaped epiphyses of the 4th toe" ], "gold_answer": "Cone-shaped epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00781", "question": "What is associated with Food intolerance?", "seeds": [ "Food intolerance" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00782", "question": "What is associated with Triangular shaped phalanges of the 5th toe?", "seeds": [ "Triangular shaped phalanges of the 5th toe" ], "gold_answer": "Triangular shaped phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00783", "question": "What is associated with Arteriovenous malformation of the lip?", "seeds": [ "Arteriovenous malformation of the lip" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00784", "question": "What is associated with Bilateral coxa valga?", "seeds": [ "Bilateral coxa valga" ], "gold_answer": "Abnormal femoral neck/head morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00785", "question": "What is associated with Cyclin D1 expression?", "seeds": [ "Cyclin D1 expression" ], "gold_answer": "Marker expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00786", "question": "What phenotype is associated with Tibia, hypoplasia or aplasia of, with polydactyly?", "seeds": [ "Tibia, hypoplasia or aplasia of, with polydactyly" ], "gold_answer": "Preaxial polydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00787", "question": "What is associated with Acromelia of the upper limbs?", "seeds": [ "Acromelia of the upper limbs" ], "gold_answer": "Aplasia/hypoplasia involving the skeleton", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00788", "question": "What is associated with Hyperpigmentation of the skin?", "seeds": [ "Hyperpigmentation of the skin" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00789", "question": "What is associated with Immunoglobulin A vasculitis?", "seeds": [ "Immunoglobulin A vasculitis" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00790", "question": "What is associated with Neonatal bilateral symmetric tonic seizure?", "seeds": [ "Neonatal bilateral symmetric tonic seizure" ], "gold_answer": "Neonatal electro-clinical motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00791", "question": "What is associated with Elevated circulating growth hormone-releasing hormone concentration?", "seeds": [ "Elevated circulating growth hormone-releasing hormone concentration" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00792", "question": "What phenotype is associated with Lymphatic malformation 12?", "seeds": [ "Lymphatic malformation 12" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00793", "question": "What is associated with Gilles de la tourette syndrome?", "seeds": [ "Gilles de la tourette syndrome" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00794", "question": "What is associated with Abnormal number of tubercles?", "seeds": [ "Abnormal number of tubercles" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00795", "question": "What is associated with Goodpasture syndrome?", "seeds": [ "Goodpasture syndrome" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00796", "question": "What phenotype is associated with Galloway-Mowat syndrome 1?", "seeds": [ "Galloway-Mowat syndrome 1" ], "gold_answer": "Narrow nasal ridge", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00797", "question": "What is associated with Complete bilateral cleft lip?", "seeds": [ "Complete bilateral cleft lip" ], "gold_answer": "Non-midline cleft of the upper lip", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00798", "question": "What is associated with Retinitis pigmentosa 36?", "seeds": [ "Retinitis pigmentosa 36" ], "gold_answer": "Retinal dystrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00799", "question": "What is associated with Thin nail?", "seeds": [ "Thin nail" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00800", "question": "What is associated with Failure to thrive secondary to recurrent infections?", "seeds": [ "Failure to thrive secondary to recurrent infections" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00801", "question": "What is associated with CD23 expression?", "seeds": [ "CD23 expression" ], "gold_answer": "Biospecimen phenotypic feature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00802", "question": "What is associated with Hemolytic anemia, G6PD deficient (favism)?", "seeds": [ "Hemolytic anemia, G6PD deficient (favism)" ], "gold_answer": "Visceromegaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00803", "question": "What is associated with Lymphedema-Distichiasis syndrome?", "seeds": [ "Lymphedema-Distichiasis syndrome" ], "gold_answer": "Abnormal ventricular septum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00804", "question": "What is associated with Difficulty recognizing another's emotions?", "seeds": [ "Difficulty recognizing another's emotions" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00805", "question": "What phenotype is associated with Bardet-Biedl syndrome 2?", "seeds": [ "Bardet-Biedl syndrome 2" ], "gold_answer": "Bicuspid aortic valve", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00806", "question": "What is associated with Protein-losing enteropathy?", "seeds": [ "Protein-losing enteropathy" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00807", "question": "What is associated with Meckel syndrome, type 6?", "seeds": [ "Meckel syndrome, type 6" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00808", "question": "What is associated with Elevated brain choline level by MRS?", "seeds": [ "Elevated brain choline level by MRS" ], "gold_answer": "Brain imaging abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00809", "question": "What is associated with Cold-induced sweating?", "seeds": [ "Cold-induced sweating" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00810", "question": "What is associated with Polymerase proofreading-related polyposis?", "seeds": [ "Polymerase proofreading-related polyposis" ], "gold_answer": "Anorectal anomaly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00811", "question": "What is associated with Anti-contactin-1 antibody positivity?", "seeds": [ "Anti-contactin-1 antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00812", "question": "What is associated with Accessory navicular bone?", "seeds": [ "Accessory navicular bone" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00813", "question": "What is associated with Abnormal morphology of left ventricular trabeculae?", "seeds": [ "Abnormal morphology of left ventricular trabeculae" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00814", "question": "What is associated with Exacerbated by pulmonary vasodilator exposure?", "seeds": [ "Exacerbated by pulmonary vasodilator exposure" ], "gold_answer": "Aggravated by", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00815", "question": "What phenotype is associated with Bazex syndrome?", "seeds": [ "Bazex syndrome" ], "gold_answer": "Low hanging columella", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00816", "question": "What is associated with Bulbar palsy?", "seeds": [ "Bulbar palsy" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00817", "question": "What is associated with MICROHYDRANENCEPHALY?", "seeds": [ "MICROHYDRANENCEPHALY" ], "gold_answer": "Abnormal nonverbal communicative behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00818", "question": "What is associated with Liddle syndrome?", "seeds": [ "Liddle syndrome" ], "gold_answer": "SCNN1G", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_gain_of_function_in" } }, { "query_id": "orph_dev_00819", "question": "What is associated with Abnormality of DNA repair?", "seeds": [ "Abnormality of DNA repair" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00820", "question": "What is associated with Renal potassium wasting?", "seeds": [ "Renal potassium wasting" ], "gold_answer": "Abnormal urinary electrolyte concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00821", "question": "What phenotype is associated with Helsmoortel-van der Aa syndrome?", "seeds": [ "Helsmoortel-van der Aa syndrome" ], "gold_answer": "Barrett esophagus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00822", "question": "What is associated with Convergence excess esotropia?", "seeds": [ "Convergence excess esotropia" ], "gold_answer": "Esotropia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00823", "question": "What is associated with Intralobar nephrogenic rest?", "seeds": [ "Intralobar nephrogenic rest" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00824", "question": "What phenotype is associated with Spermatogenic failure 27?", "seeds": [ "Spermatogenic failure 27" ], "gold_answer": "Coiled sperm flagella", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00825", "question": "What is associated with Vaginal adenosis?", "seeds": [ "Vaginal adenosis" ], "gold_answer": "Abnormal vagina morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00826", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 73?", "seeds": [ "Developmental and epileptic encephalopathy 73" ], "gold_answer": "Delayed CNS myelination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00827", "question": "What phenotype is associated with Retinal dystrophy with or without extraocular anomalies?", "seeds": [ "Retinal dystrophy with or without extraocular anomalies" ], "gold_answer": "Mild intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00828", "question": "What is associated with Idiosyncratic gesture?", "seeds": [ "Idiosyncratic gesture" ], "gold_answer": "Atypical gestures", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00829", "question": "What is associated with Hypoplasia of the thymus?", "seeds": [ "Hypoplasia of the thymus" ], "gold_answer": "Aplasia/Hypoplasia of the thymus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00830", "question": "What is associated with Increased neutrophil ribosomes?", "seeds": [ "Increased neutrophil ribosomes" ], "gold_answer": "Abnormality of neutrophils", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00831", "question": "What is associated with Toxemia of pregnancy?", "seeds": [ "Toxemia of pregnancy" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00832", "question": "What is associated with Status epilepticus without prominent motor symptoms?", "seeds": [ "Status epilepticus without prominent motor symptoms" ], "gold_answer": "Status epilepticus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00833", "question": "What is associated with Urinary tract neoplasm?", "seeds": [ "Urinary tract neoplasm" ], "gold_answer": "Neoplasm of the genitourinary tract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00834", "question": "What is associated with Enhanced neurotoxicity of vincristine?", "seeds": [ "Enhanced neurotoxicity of vincristine" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00835", "question": "What is associated with Kasabach-Merritt phenomenon?", "seeds": [ "Kasabach-Merritt phenomenon" ], "gold_answer": "Disseminated intravascular coagulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00836", "question": "What is associated with Midsystolic murmur?", "seeds": [ "Midsystolic murmur" ], "gold_answer": "Abnormal heart sound", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00837", "question": "What is associated with Abnormal emotional state?", "seeds": [ "Abnormal emotional state" ], "gold_answer": "Abnormal affect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00838", "question": "What is associated with Reduced upper to lower segment ratio?", "seeds": [ "Reduced upper to lower segment ratio" ], "gold_answer": "Abnormal upper to lower segment ratio", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00839", "question": "What is associated with Positive plasma/serum cotinine test?", "seeds": [ "Positive plasma/serum cotinine test" ], "gold_answer": "Plasma/serum xenobiotic", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00840", "question": "What is associated with Flexion contracture of the 5th toe?", "seeds": [ "Flexion contracture of the 5th toe" ], "gold_answer": "Flexion contracture of toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00841", "question": "What is associated with Inclusion body fibromatosis?", "seeds": [ "Inclusion body fibromatosis" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00842", "question": "What is associated with Vitreous strands?", "seeds": [ "Vitreous strands" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00843", "question": "What is associated with Intracellular accumulation of Dol-PP-GlcNAc2Man5?", "seeds": [ "Intracellular accumulation of Dol-PP-GlcNAc2Man5" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00844", "question": "What is associated with Iris flocculi?", "seeds": [ "Iris flocculi" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00845", "question": "What is associated with Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy?", "seeds": [ "Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy" ], "gold_answer": "SORD", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_dev_00846", "question": "What is associated with Epidermodysplasia verruciformis 2?", "seeds": [ "Epidermodysplasia verruciformis 2" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00847", "question": "What is associated with Lymphedema-Hypoparathyroidism syndrome?", "seeds": [ "Lymphedema-Hypoparathyroidism syndrome" ], "gold_answer": "Abnormality of body height", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00848", "question": "What is associated with Opportunistic fungal infection?", "seeds": [ "Opportunistic fungal infection" ], "gold_answer": "Opportunistic infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00849", "question": "What is associated with Facial capillary hemangioma?", "seeds": [ "Facial capillary hemangioma" ], "gold_answer": "Capillary hemangioma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00850", "question": "What is associated with Ovarian dermoid cyst?", "seeds": [ "Ovarian dermoid cyst" ], "gold_answer": "Ovarian cyst", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00851", "question": "What is associated with Rhizomelic chondrodysplasia punctata type 3?", "seeds": [ "Rhizomelic chondrodysplasia punctata type 3" ], "gold_answer": "AGPS", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_00852", "question": "What is associated with Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive?", "seeds": [ "Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive" ], "gold_answer": "Anemia of inadequate production", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00853", "question": "What is associated with Anti-factor VII antibody positivity?", "seeds": [ "Anti-factor VII antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00854", "question": "What is associated with Chronic tinea infection?", "seeds": [ "Chronic tinea infection" ], "gold_answer": "Chronic infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00855", "question": "What is associated with Neoplasm of the ceruminal gland?", "seeds": [ "Neoplasm of the ceruminal gland" ], "gold_answer": "Abnormality of the outer ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00856", "question": "What is associated with Palpebral thickening?", "seeds": [ "Palpebral thickening" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00857", "question": "What is associated with Decreased fetal movement?", "seeds": [ "Decreased fetal movement" ], "gold_answer": "Abnormal fetal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00858", "question": "What is associated with Tetralogy of Fallot with absent subarterial conus?", "seeds": [ "Tetralogy of Fallot with absent subarterial conus" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00859", "question": "What is associated with Intellectual developmental disorder, X-linked syndromic, Nascimento type?", "seeds": [ "Intellectual developmental disorder, X-linked syndromic, Nascimento type" ], "gold_answer": "Abnormal nipple morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00860", "question": "What is associated with Decorticate rigidity?", "seeds": [ "Decorticate rigidity" ], "gold_answer": "Rigidity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00861", "question": "What phenotype is associated with Encephalocraniocutaneous lipomatosis?", "seeds": [ "Encephalocraniocutaneous lipomatosis" ], "gold_answer": "Cortical dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00862", "question": "What is associated with Laryngeal cleft?", "seeds": [ "Laryngeal cleft" ], "gold_answer": "Abnormality of the upper respiratory tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00863", "question": "What is associated with Abnormal gastric mucosa morphology?", "seeds": [ "Abnormal gastric mucosa morphology" ], "gold_answer": "Abnormal digestive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00864", "question": "What phenotype is associated with Spastic paraplegia-glaucoma-intellectual disability syndrome?", "seeds": [ "Spastic paraplegia-glaucoma-intellectual disability syndrome" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00865", "question": "What is associated with Subacute inflammatory demyelinating polyneuropathy?", "seeds": [ "Subacute inflammatory demyelinating polyneuropathy" ], "gold_answer": "Chorea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00866", "question": "What is associated with Anti-AK5 antibody positivity?", "seeds": [ "Anti-AK5 antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00867", "question": "What is associated with Abnormal stereopsis?", "seeds": [ "Abnormal stereopsis" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00868", "question": "What phenotype is associated with Dermatosis papulosa nigra?", "seeds": [ "Dermatosis papulosa nigra" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00869", "question": "What is associated with Abnormal left ventricular end-diastolic volume?", "seeds": [ "Abnormal left ventricular end-diastolic volume" ], "gold_answer": "Abnormal cardiac ventricular function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00870", "question": "What is associated with Decreased T3/T4 ratio?", "seeds": [ "Decreased T3/T4 ratio" ], "gold_answer": "Abnormal circulating thyroid hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00871", "question": "What is associated with Priapism?", "seeds": [ "Priapism" ], "gold_answer": "Erectile dysfunction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00872", "question": "What is associated with Short uvula?", "seeds": [ "Short uvula" ], "gold_answer": "Abnormal uvula morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00873", "question": "What is associated with Abnormality of lateral rectus extra-ocular muscle?", "seeds": [ "Abnormality of lateral rectus extra-ocular muscle" ], "gold_answer": "Abnormality of the extraocular muscles", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00874", "question": "What is associated with Fibrosis of extraocular muscles, congenital, 3B?", "seeds": [ "Fibrosis of extraocular muscles, congenital, 3B" ], "gold_answer": "COL25A1", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_00875", "question": "What is associated with Complete duplication of the distal phalanx of the 5th finger?", "seeds": [ "Complete duplication of the distal phalanx of the 5th finger" ], "gold_answer": "Duplication of the distal phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00876", "question": "What is associated with Umbilical hernia?", "seeds": [ "Umbilical hernia" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00877", "question": "What is associated with Hyperpigmentation in sun-exposed areas?", "seeds": [ "Hyperpigmentation in sun-exposed areas" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00878", "question": "What phenotype is associated with Leishmaniasis, tegumentary?", "seeds": [ "Leishmaniasis, tegumentary" ], "gold_answer": "Tegumentary leishmaniasis susceptibility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00879", "question": "What is associated with Pelviscapular dysplasia?", "seeds": [ "Pelviscapular dysplasia" ], "gold_answer": "Short long bone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00880", "question": "What phenotype is associated with Complete androgen insensitivity syndrome?", "seeds": [ "Complete androgen insensitivity syndrome" ], "gold_answer": "Bilateral cryptorchidism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00881", "question": "What is associated with Gangrene?", "seeds": [ "Gangrene" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00882", "question": "What is associated with Abnormal communication?", "seeds": [ "Abnormal communication" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00883", "question": "What phenotype is associated with Erythrokeratodermia variabilis?", "seeds": [ "Erythrokeratodermia variabilis" ], "gold_answer": "Tapered finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00884", "question": "What is associated with Increased insulin like growth factor binding protein acid labile subunit concentration?", "seeds": [ "Increased insulin like growth factor binding protein acid labile subunit concentration" ], "gold_answer": "Abnormal circulating insulin-like growth factor-binding protein acid-labile subunit concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00885", "question": "What is associated with Ataxia-telangiectasia-like disorder?", "seeds": [ "Ataxia-telangiectasia-like disorder" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00886", "question": "What is associated with Spermatogenic failure 69?", "seeds": [ "Spermatogenic failure 69" ], "gold_answer": "Decreased fertility in males", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00887", "question": "What phenotype is associated with Trisomy 12p syndrome?", "seeds": [ "Trisomy 12p syndrome" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00888", "question": "What phenotype is associated with Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome?", "seeds": [ "Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome" ], "gold_answer": "Encephalocele", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00889", "question": "What is associated with Spinocerebellar ataxia type 18?", "seeds": [ "Spinocerebellar ataxia type 18" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00890", "question": "What phenotype is associated with Chorea, benign hereditary?", "seeds": [ "Chorea, benign hereditary" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00891", "question": "What is associated with Congenital hydrocele?", "seeds": [ "Congenital hydrocele" ], "gold_answer": "Abnormal testis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00892", "question": "What is associated with Oculomotor-abducens synkinesis?", "seeds": [ "Oculomotor-abducens synkinesis" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00893", "question": "What is associated with Oblique fracture?", "seeds": [ "Oblique fracture" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00894", "question": "What is associated with Positive urine opioid test?", "seeds": [ "Positive urine opioid test" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00895", "question": "What is associated with Flattened radial head?", "seeds": [ "Flattened radial head" ], "gold_answer": "Abnormal morphology of the radius", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00896", "question": "What is associated with Choroid plexus calcification?", "seeds": [ "Choroid plexus calcification" ], "gold_answer": "Abnormal choroid plexus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00897", "question": "What is associated with Eosinophilic fasciitis?", "seeds": [ "Eosinophilic fasciitis" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00898", "question": "What is associated with Antiparietal cell antibody positivity?", "seeds": [ "Antiparietal cell antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00899", "question": "What is associated with Purulent rhinitis?", "seeds": [ "Purulent rhinitis" ], "gold_answer": "Chronic rhinitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00900", "question": "What is associated with Progressive ophthalmoplegia?", "seeds": [ "Progressive ophthalmoplegia" ], "gold_answer": "Ophthalmoparesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00901", "question": "What phenotype is associated with Juvenile nephropathic cystinosis?", "seeds": [ "Juvenile nephropathic cystinosis" ], "gold_answer": "Abnormal urine potassium concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00902", "question": "What phenotype is associated with Trisomy 18 syndrome?", "seeds": [ "Trisomy 18 syndrome" ], "gold_answer": "Branchial anomaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00903", "question": "What is associated with Partial absence of thumb?", "seeds": [ "Partial absence of thumb" ], "gold_answer": "Abnormality of thumb phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00904", "question": "What phenotype is associated with Isolated optic neuritis?", "seeds": [ "Isolated optic neuritis" ], "gold_answer": "Visual loss", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00905", "question": "What is associated with EEG with temporal sharp waves?", "seeds": [ "EEG with temporal sharp waves" ], "gold_answer": "EEG with focal sharp waves", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00906", "question": "What is associated with Leber congenital amaurosis 17?", "seeds": [ "Leber congenital amaurosis 17" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00907", "question": "What phenotype is associated with Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome?", "seeds": [ "Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome" ], "gold_answer": "Motor delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00908", "question": "What is associated with Synostosis involving the 1st metatarsal?", "seeds": [ "Synostosis involving the 1st metatarsal" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00909", "question": "What is associated with Anti-laminin 6 antibody positivity?", "seeds": [ "Anti-laminin 6 antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00910", "question": "What phenotype is associated with Muscular dystrophy, congenital, megaconial type?", "seeds": [ "Muscular dystrophy, congenital, megaconial type" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00911", "question": "What is associated with Complete duplication of proximal phalanx of the thumb?", "seeds": [ "Complete duplication of proximal phalanx of the thumb" ], "gold_answer": "Complete duplication of phalanx of hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00912", "question": "What is associated with Clark-Baraitser syndrome?", "seeds": [ "Clark-Baraitser syndrome" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00913", "question": "What is associated with Positive bloodstream VDRL test?", "seeds": [ "Positive bloodstream VDRL test" ], "gold_answer": "Bloodstream infectious agent", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00914", "question": "What is associated with Abnormal penis morphology?", "seeds": [ "Abnormal penis morphology" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00915", "question": "What is associated with Aplasia/Hypoplasia of the phalanges of the 5th toe?", "seeds": [ "Aplasia/Hypoplasia of the phalanges of the 5th toe" ], "gold_answer": "Aplasia/hypoplasia involving bones of the lower limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00916", "question": "What is associated with Congenital heart defects, multiple types, 2?", "seeds": [ "Congenital heart defects, multiple types, 2" ], "gold_answer": "Abnormal cardiac ventricular function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00917", "question": "What phenotype is associated with Pupil, egg-shaped?", "seeds": [ "Pupil, egg-shaped" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00918", "question": "What is associated with Intermittent episodes of respiratory insufficiency due to muscle weakness?", "seeds": [ "Intermittent episodes of respiratory insufficiency due to muscle weakness" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00919", "question": "What phenotype is associated with Dysferlin-related limb-girdle muscular dystrophy R2?", "seeds": [ "Dysferlin-related limb-girdle muscular dystrophy R2" ], "gold_answer": "Inability to walk", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00920", "question": "What is associated with Abnormal foveal pit on macular OCT?", "seeds": [ "Abnormal foveal pit on macular OCT" ], "gold_answer": "Abnormal foveal morphology on macular OCT", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00921", "question": "What is associated with Shoulder girdle muscle atrophy?", "seeds": [ "Shoulder girdle muscle atrophy" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00922", "question": "What is associated with Narrow uvula?", "seeds": [ "Narrow uvula" ], "gold_answer": "Abnormal uvula morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00923", "question": "What is associated with Conjunctivitis?", "seeds": [ "Conjunctivitis" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00924", "question": "What is associated with Hyper-IgM syndrome type 5?", "seeds": [ "Hyper-IgM syndrome type 5" ], "gold_answer": "UNG", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_00925", "question": "What is associated with Sclerotic scapulae?", "seeds": [ "Sclerotic scapulae" ], "gold_answer": "Abnormality of bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00926", "question": "What is associated with Multiple rows of eyelashes?", "seeds": [ "Multiple rows of eyelashes" ], "gold_answer": "Abnormal eyelash morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00927", "question": "What is associated with Cataract 44?", "seeds": [ "Cataract 44" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00928", "question": "What is associated with Decreased circulating vitamin B8 concentration?", "seeds": [ "Decreased circulating vitamin B8 concentration" ], "gold_answer": "Abnormal metabolism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00929", "question": "What is associated with Drusen?", "seeds": [ "Drusen" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00930", "question": "What is associated with Abnormality of the middle phalanx of the 4th finger?", "seeds": [ "Abnormality of the middle phalanx of the 4th finger" ], "gold_answer": "Abnormal 4th finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00931", "question": "What phenotype is associated with Parkinson disease 22, autosomal dominant?", "seeds": [ "Parkinson disease 22, autosomal dominant" ], "gold_answer": "Depression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00932", "question": "What is associated with Palmoplantar keratoderma, nonepidermolytic?", "seeds": [ "Palmoplantar keratoderma, nonepidermolytic" ], "gold_answer": "Palmoplantar hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00933", "question": "What is associated with Lichtenstein-Knorr syndrome?", "seeds": [ "Lichtenstein-Knorr syndrome" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00934", "question": "What is associated with Intellectual developmental disorder, X-linked 91?", "seeds": [ "Intellectual developmental disorder, X-linked 91" ], "gold_answer": "Abnormality of the elbow", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00935", "question": "What is associated with Ileal atresia?", "seeds": [ "Ileal atresia" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00936", "question": "What is associated with Abnormal localization of kidney?", "seeds": [ "Abnormal localization of kidney" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00937", "question": "What phenotype is associated with Maple syrup urine disease?", "seeds": [ "Maple syrup urine disease" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00938", "question": "What is associated with Increased alveolar volume?", "seeds": [ "Increased alveolar volume" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00939", "question": "What phenotype is associated with Developmental delay with short stature, dysmorphic features, and sparse hair?", "seeds": [ "Developmental delay with short stature, dysmorphic features, and sparse hair" ], "gold_answer": "Low-set ears", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00940", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal recessive 76?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 76" ], "gold_answer": "Absent speech", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00941", "question": "What phenotype is associated with Trisomy 5p syndrome?", "seeds": [ "Trisomy 5p syndrome" ], "gold_answer": "Frontal bossing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00942", "question": "What is associated with Spinocerebellar ataxia 6?", "seeds": [ "Spinocerebellar ataxia 6" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00943", "question": "What is associated with Metabolic ketoacidosis?", "seeds": [ "Metabolic ketoacidosis" ], "gold_answer": "Ketosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00944", "question": "What is associated with Recurrent deep organ abscess formation?", "seeds": [ "Recurrent deep organ abscess formation" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00945", "question": "What is associated with Periorbital fullness?", "seeds": [ "Periorbital fullness" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00946", "question": "What is associated with Charlie M syndrome?", "seeds": [ "Charlie M syndrome" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00947", "question": "What is associated with Thick eyebrow?", "seeds": [ "Thick eyebrow" ], "gold_answer": "Abnormality of the ocular adnexa", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00948", "question": "What phenotype is associated with Aplasia cutis congenita of limbs, recessive?", "seeds": [ "Aplasia cutis congenita of limbs, recessive" ], "gold_answer": "Finger syndactyly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00949", "question": "What phenotype is associated with Gaucher disease type 3?", "seeds": [ "Gaucher disease type 3" ], "gold_answer": "Avascular necrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00950", "question": "What is associated with Arachnoid granulation?", "seeds": [ "Arachnoid granulation" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00951", "question": "What is associated with Decreased neutrophil adhesion?", "seeds": [ "Decreased neutrophil adhesion" ], "gold_answer": "Abnormal neutrophil physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00952", "question": "What is associated with Butterfly vertebral arch?", "seeds": [ "Butterfly vertebral arch" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00953", "question": "What is associated with Cardiac lipoma?", "seeds": [ "Cardiac lipoma" ], "gold_answer": "Neoplasm of fatty tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00954", "question": "What is associated with Pierpont syndrome?", "seeds": [ "Pierpont syndrome" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00955", "question": "What is associated with Exercise-induced leg cramps?", "seeds": [ "Exercise-induced leg cramps" ], "gold_answer": "Muscle spasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00956", "question": "What is associated with Abnormality of the sublingual glands?", "seeds": [ "Abnormality of the sublingual glands" ], "gold_answer": "Abnormal salivary gland morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00957", "question": "What phenotype is associated with Sporadic infantile bilateral striatal necrosis?", "seeds": [ "Sporadic infantile bilateral striatal necrosis" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00958", "question": "What is associated with Disseminated cutaneous warts?", "seeds": [ "Disseminated cutaneous warts" ], "gold_answer": "Papilloma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00959", "question": "What phenotype is associated with Mucolipidosis type III?", "seeds": [ "Mucolipidosis type III" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00960", "question": "What is associated with Increased glucose-6-phosphate dehydrogenase level in red blood cells?", "seeds": [ "Increased glucose-6-phosphate dehydrogenase level in red blood cells" ], "gold_answer": "Abnormal circulating glucose-6-phosphate dehydrogenase concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00961", "question": "What is associated with Subcutaneous calcification?", "seeds": [ "Subcutaneous calcification" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00962", "question": "What is associated with Long face?", "seeds": [ "Long face" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00963", "question": "What is associated with Mitochondrial complex I deficiency, nuclear type 18?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 18" ], "gold_answer": "Abnormal CSF lactate concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00964", "question": "What is associated with Congenital lobar overinflation?", "seeds": [ "Congenital lobar overinflation" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00965", "question": "What is associated with Retinitis pigmentosa 79?", "seeds": [ "Retinitis pigmentosa 79" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00966", "question": "What is associated with Spastic ataxia, Charlevoix-Saguenay type?", "seeds": [ "Spastic ataxia, Charlevoix-Saguenay type" ], "gold_answer": "Abnormal pyramidal sign", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00967", "question": "What is associated with Abnormal pulmonary fissure architecture?", "seeds": [ "Abnormal pulmonary fissure architecture" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00968", "question": "What is associated with Abnormal vestibulo-ocular reflex?", "seeds": [ "Abnormal vestibulo-ocular reflex" ], "gold_answer": "Abnormal vestibular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00969", "question": "What is associated with Epileptic encephalopathy, early infantile, 11?", "seeds": [ "Epileptic encephalopathy, early infantile, 11" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00970", "question": "What is associated with Abnormal muscle fiber alpha sarcoglycan?", "seeds": [ "Abnormal muscle fiber alpha sarcoglycan" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00971", "question": "What is associated with Anti-myelin oligodendrocyte glycoprotein antibody positivity?", "seeds": [ "Anti-myelin oligodendrocyte glycoprotein antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00972", "question": "What is associated with Congenital glucokinase-related hyperinsulinism?", "seeds": [ "Congenital glucokinase-related hyperinsulinism" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00973", "question": "What is associated with Nephrotic syndrome, type 21?", "seeds": [ "Nephrotic syndrome, type 21" ], "gold_answer": "Abnormal Bowman capsule morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00974", "question": "What is associated with Hallux sesamoid injury?", "seeds": [ "Hallux sesamoid injury" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00975", "question": "What is associated with Self-improving dystrophic epidermolysis bullosa?", "seeds": [ "Self-improving dystrophic epidermolysis bullosa" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00976", "question": "What phenotype is associated with Deafness, autosomal dominant 56?", "seeds": [ "Deafness, autosomal dominant 56" ], "gold_answer": "Abnormal vestibular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00977", "question": "What phenotype is associated with Ectodermal dysplasia/skin fragility syndrome?", "seeds": [ "Ectodermal dysplasia/skin fragility syndrome" ], "gold_answer": "Ectodermal dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00978", "question": "What is associated with Intellectual disability-balding-patella luxation-acromicria syndrome?", "seeds": [ "Intellectual disability-balding-patella luxation-acromicria syndrome" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00979", "question": "What is associated with Abnormal circulating gonadotropin concentration?", "seeds": [ "Abnormal circulating gonadotropin concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00980", "question": "What is associated with Spastic hemiparesis?", "seeds": [ "Spastic hemiparesis" ], "gold_answer": "Cerebral palsy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_00981", "question": "What is associated with Night blindness, congenital stationary, type 1F?", "seeds": [ "Night blindness, congenital stationary, type 1F" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00982", "question": "What is associated with Spondyloepiphyseal dysplasia, Nishimura type?", "seeds": [ "Spondyloepiphyseal dysplasia, Nishimura type" ], "gold_answer": "Abnormal enchondral ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00983", "question": "What phenotype is associated with Diamond-Blackfan anemia 7?", "seeds": [ "Diamond-Blackfan anemia 7" ], "gold_answer": "Underdeveloped supraorbital ridges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00984", "question": "What is associated with Gastric lymphoma, primary?", "seeds": [ "Gastric lymphoma, primary" ], "gold_answer": "Neoplasm of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00985", "question": "What is associated with Myopia 8?", "seeds": [ "Myopia 8" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00986", "question": "What is associated with Deep palmar crease?", "seeds": [ "Deep palmar crease" ], "gold_answer": "Abnormal dermatoglyphics", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00987", "question": "What is associated with Renal artery stenosis?", "seeds": [ "Renal artery stenosis" ], "gold_answer": "Abnormal intrarenal artery morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00988", "question": "What phenotype is associated with Spondyloepiphyseal dysplasia, Maroteaux type?", "seeds": [ "Spondyloepiphyseal dysplasia, Maroteaux type" ], "gold_answer": "Short palm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00989", "question": "What phenotype is associated with Progeria-short stature-pigmented nevi syndrome?", "seeds": [ "Progeria-short stature-pigmented nevi syndrome" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00990", "question": "What is associated with Cardiofaciocutaneous syndrome 1?", "seeds": [ "Cardiofaciocutaneous syndrome 1" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00991", "question": "What is associated with Acrodysostosis 2 with or without hormone resistance?", "seeds": [ "Acrodysostosis 2 with or without hormone resistance" ], "gold_answer": "Short long bone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00992", "question": "What is associated with Elevated circulating beta-aminoisobutyric acid concentration?", "seeds": [ "Elevated circulating beta-aminoisobutyric acid concentration" ], "gold_answer": "Abnormal circulating amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00993", "question": "What is associated with Pseudohypoaldosteronism, type I, autosomal recessive?", "seeds": [ "Pseudohypoaldosteronism, type I, autosomal recessive" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00994", "question": "What phenotype is associated with Lethal Kniest-like dysplasia?", "seeds": [ "Lethal Kniest-like dysplasia" ], "gold_answer": "Coronal cleft vertebrae", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_00995", "question": "What is associated with Hypoparathyroidism?", "seeds": [ "Hypoparathyroidism" ], "gold_answer": "Abnormality of the parathyroid gland", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00996", "question": "What is associated with Neurodevelopmental disorder with central and peripheral motor dysfunction?", "seeds": [ "Neurodevelopmental disorder with central and peripheral motor dysfunction" ], "gold_answer": "Abnormality of hand joint mobility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00997", "question": "What is associated with Unilateral brachydactyly?", "seeds": [ "Unilateral brachydactyly" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_00998", "question": "What is associated with Isolated Dandy-Walker malformation?", "seeds": [ "Isolated Dandy-Walker malformation" ], "gold_answer": "Aplasia/Hypoplasia of the cerebellum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_00999", "question": "What is associated with Left ventricular noncompaction 7?", "seeds": [ "Left ventricular noncompaction 7" ], "gold_answer": "Cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01000", "question": "What is associated with Dolichocephaly?", "seeds": [ "Dolichocephaly" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01001", "question": "What is associated with Premature adrenarche?", "seeds": [ "Premature adrenarche" ], "gold_answer": "Early onset of sexual maturation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01002", "question": "What is associated with Hypoplasia of latissimus dorsi muscle?", "seeds": [ "Hypoplasia of latissimus dorsi muscle" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01003", "question": "What phenotype is associated with Nephropathy, progressive tubulointerstitial, with cholestatic liverdisease?", "seeds": [ "Nephropathy, progressive tubulointerstitial, with cholestatic liverdisease" ], "gold_answer": "Abnormal tubulointerstitial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01004", "question": "What is associated with Congenital disorder of glycosylation, type Ip?", "seeds": [ "Congenital disorder of glycosylation, type Ip" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01005", "question": "What phenotype is associated with Dystonia 30?", "seeds": [ "Dystonia 30" ], "gold_answer": "Writer's cramp", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01006", "question": "What phenotype is associated with Spondyloepiphyseal dysplasia, Maroteaux type?", "seeds": [ "Spondyloepiphyseal dysplasia, Maroteaux type" ], "gold_answer": "Platyspondyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01007", "question": "What is associated with Abnormal forearm morphology?", "seeds": [ "Abnormal forearm morphology" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01008", "question": "What is associated with Elevated brain succinate level by MRS?", "seeds": [ "Elevated brain succinate level by MRS" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01009", "question": "What phenotype is associated with 46,xy sex reversal 6?", "seeds": [ "46,xy sex reversal 6" ], "gold_answer": "Hypospadias", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01010", "question": "What is associated with Recurrent Aspergillus infections?", "seeds": [ "Recurrent Aspergillus infections" ], "gold_answer": "Recurrent fungal infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01011", "question": "What is associated with Parotid adenoma?", "seeds": [ "Parotid adenoma" ], "gold_answer": "Abnormal salivary gland morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01012", "question": "What phenotype is associated with Neuropathy, hereditary motor and sensory, Okinawa type?", "seeds": [ "Neuropathy, hereditary motor and sensory, Okinawa type" ], "gold_answer": "Distal sensory impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01013", "question": "What is associated with Abnormal posterior semicircular canal morphology?", "seeds": [ "Abnormal posterior semicircular canal morphology" ], "gold_answer": "Abnormal morphology of the vestibule of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01014", "question": "What is associated with Abnormal large intestine morphology?", "seeds": [ "Abnormal large intestine morphology" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01015", "question": "What is associated with Triangular epiphysis of the distal phalanx of the 5th finger?", "seeds": [ "Triangular epiphysis of the distal phalanx of the 5th finger" ], "gold_answer": "Abnormal 5th finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01016", "question": "What is associated with Best corrected visual acuity 0.3 LogMAR?", "seeds": [ "Best corrected visual acuity 0.3 LogMAR" ], "gold_answer": "Visual acuity test abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01017", "question": "What is associated with Protein-losing enteropathy?", "seeds": [ "Protein-losing enteropathy" ], "gold_answer": "Abnormal small intestine morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01018", "question": "What is associated with Head and neck distribution?", "seeds": [ "Head and neck distribution" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01019", "question": "What is associated with Retinopathy of prematurity stage 5a?", "seeds": [ "Retinopathy of prematurity stage 5a" ], "gold_answer": "Retinopathy of prematurity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01020", "question": "What phenotype is associated with Aplasia of the left hemidiaphragm?", "seeds": [ "Aplasia of the left hemidiaphragm" ], "gold_answer": "Abnormal cardiovascular system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01021", "question": "What is associated with Palmoplantar pustulosis?", "seeds": [ "Palmoplantar pustulosis" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01022", "question": "What is associated with Neuroepithelial neoplasm?", "seeds": [ "Neuroepithelial neoplasm" ], "gold_answer": "Neuroectodermal neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01023", "question": "What is associated with Charcot-Marie-Tooth disease, axonal, type 2B1?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2B1" ], "gold_answer": "Abnormal motor nerve conduction velocity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01024", "question": "What is associated with Retinopathy of prematurity?", "seeds": [ "Retinopathy of prematurity" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01025", "question": "What is associated with Elevated circulating aldolase concentration?", "seeds": [ "Elevated circulating aldolase concentration" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01026", "question": "What is associated with Retinitis pigmentosa 51?", "seeds": [ "Retinitis pigmentosa 51" ], "gold_answer": "Abnormal macular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01027", "question": "What is associated with Fractured mandible?", "seeds": [ "Fractured mandible" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01028", "question": "What is associated with Short 2nd finger?", "seeds": [ "Short 2nd finger" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01029", "question": "What is associated with Lymphocytic interstitial pneumonia?", "seeds": [ "Lymphocytic interstitial pneumonia" ], "gold_answer": "Abnormal pulmonary interstitial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01030", "question": "What is associated with Urinary excretion of sialylated oligosaccharides?", "seeds": [ "Urinary excretion of sialylated oligosaccharides" ], "gold_answer": "Oligosacchariduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01031", "question": "What is associated with Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive?", "seeds": [ "Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive" ], "gold_answer": "Abnormality of hair growth rate", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01032", "question": "What is associated with Branchial cleft anomaliesbranchial cysts, included?", "seeds": [ "Branchial cleft anomaliesbranchial cysts, included" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01033", "question": "What is associated with Abnormal blood glucose concentration?", "seeds": [ "Abnormal blood glucose concentration" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01034", "question": "What is associated with Myopathy, distal, 7, adult-onset, X-linked?", "seeds": [ "Myopathy, distal, 7, adult-onset, X-linked" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01035", "question": "What is associated with Pulmonary situs ambiguus?", "seeds": [ "Pulmonary situs ambiguus" ], "gold_answer": "Abnormal pulmonary situs morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01036", "question": "What is associated with Somatic sensory dysfunction?", "seeds": [ "Somatic sensory dysfunction" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01037", "question": "What is associated with Wagner vitreoretinopathy?", "seeds": [ "Wagner vitreoretinopathy" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01038", "question": "What phenotype is associated with Hydrocephalus, congenital, 3, with brain anomalies?", "seeds": [ "Hydrocephalus, congenital, 3, with brain anomalies" ], "gold_answer": "Brain atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01039", "question": "What is associated with Gonadal hypoplasia?", "seeds": [ "Gonadal hypoplasia" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01040", "question": "What is associated with Gout susceptibility 4?", "seeds": [ "Gout susceptibility 4" ], "gold_answer": "Arthritis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01041", "question": "What is associated with GTP cyclohydrolase I deficiency?", "seeds": [ "GTP cyclohydrolase I deficiency" ], "gold_answer": "GCH1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_01042", "question": "What is associated with Muscular dystrophy, limb-girdle, type 2D?", "seeds": [ "Muscular dystrophy, limb-girdle, type 2D" ], "gold_answer": "Skeletal muscle hypertrophy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01043", "question": "What is associated with Roussy-Levy hereditary areflexic dystasia?", "seeds": [ "Roussy-Levy hereditary areflexic dystasia" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01044", "question": "What is associated with Inflammatory abnormality of the skin?", "seeds": [ "Inflammatory abnormality of the skin" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01045", "question": "What is associated with Falciform retinal fold?", "seeds": [ "Falciform retinal fold" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01046", "question": "What is associated with Dermatomyositis?", "seeds": [ "Dermatomyositis" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01047", "question": "What phenotype is associated with Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency?", "seeds": [ "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency" ], "gold_answer": "Dilatation of the cerebral artery", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01048", "question": "What is associated with Time agnosia?", "seeds": [ "Time agnosia" ], "gold_answer": "Abnormal interpretation of external stimuli", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01049", "question": "What phenotype is associated with Neurodegeneration with brain iron accumulation 2A?", "seeds": [ "Neurodegeneration with brain iron accumulation 2A" ], "gold_answer": "Decreased nerve conduction velocity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01050", "question": "What is associated with Decreased CD4+ T cell ZAP-70 protein expression?", "seeds": [ "Decreased CD4+ T cell ZAP-70 protein expression" ], "gold_answer": "Abnormal T cell morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01051", "question": "What is associated with Reduced cerebral white matter volume?", "seeds": [ "Reduced cerebral white matter volume" ], "gold_answer": "Abnormal cerebral white matter morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01052", "question": "What phenotype is associated with Holoprosencephaly 4?", "seeds": [ "Holoprosencephaly 4" ], "gold_answer": "Cerebral visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01053", "question": "What is associated with Fanconi renotubular syndrome 3?", "seeds": [ "Fanconi renotubular syndrome 3" ], "gold_answer": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01054", "question": "What is associated with Abnormal Th1 T cell proportion?", "seeds": [ "Abnormal Th1 T cell proportion" ], "gold_answer": "Abnormal leukocyte physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01055", "question": "What is associated with Major affective disorder 1?", "seeds": [ "Major affective disorder 1" ], "gold_answer": "Abnormally increased volition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01056", "question": "What is associated with Camptodactyly of 2nd-5th fingers?", "seeds": [ "Camptodactyly of 2nd-5th fingers" ], "gold_answer": "Camptodactyly of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01057", "question": "What is associated with Abnormal PR segment?", "seeds": [ "Abnormal PR segment" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01058", "question": "What is associated with Nystagmus, congenital motor, autosomal recessive?", "seeds": [ "Nystagmus, congenital motor, autosomal recessive" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01059", "question": "What phenotype is associated with Syringocystadenoma papilliferum?", "seeds": [ "Syringocystadenoma papilliferum" ], "gold_answer": "Nevus sebaceous", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01060", "question": "What is associated with Telangiectasia, hereditary hemorrhagic, type 4?", "seeds": [ "Telangiectasia, hereditary hemorrhagic, type 4" ], "gold_answer": "Abnormality of blood circulation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01061", "question": "What is associated with Lipomatous tumor?", "seeds": [ "Lipomatous tumor" ], "gold_answer": "Neoplasm of fatty tissue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01062", "question": "What is associated with Limited foot eversion?", "seeds": [ "Limited foot eversion" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01063", "question": "What phenotype is associated with Joubert syndrome 1?", "seeds": [ "Joubert syndrome 1" ], "gold_answer": "Hypoplasia of the brainstem", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01064", "question": "What is associated with Isolated fibular hemimelia?", "seeds": [ "Isolated fibular hemimelia" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01065", "question": "What is associated with Libman-Sacks lesions?", "seeds": [ "Libman-Sacks lesions" ], "gold_answer": "Abnormal inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01066", "question": "What is associated with Abnormal bladder morphology?", "seeds": [ "Abnormal bladder morphology" ], "gold_answer": "Abnormality of the lower urinary tract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01067", "question": "What is associated with Optic atrophy 8?", "seeds": [ "Optic atrophy 8" ], "gold_answer": "Abnormal mitral valve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01068", "question": "What is associated with Second metatarsal posteriorly placed?", "seeds": [ "Second metatarsal posteriorly placed" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01069", "question": "What is associated with Centronuclear myopathy 1?", "seeds": [ "Centronuclear myopathy 1" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01070", "question": "What is associated with Abnormal cecum morphology?", "seeds": [ "Abnormal cecum morphology" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01071", "question": "What is associated with Short-Rib thoracic dysplasia 7 with or without polydactyly?", "seeds": [ "Short-Rib thoracic dysplasia 7 with or without polydactyly" ], "gold_answer": "Abnormal urine protein level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01072", "question": "What is associated with Pelvic lipomatosis with crossed renal ectopia?", "seeds": [ "Pelvic lipomatosis with crossed renal ectopia" ], "gold_answer": "Lipomatous tumor", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01073", "question": "What phenotype is associated with Myopathy, myofibrillar, 3?", "seeds": [ "Myopathy, myofibrillar, 3" ], "gold_answer": "Myalgia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01074", "question": "What phenotype is associated with Asperger syndrome, susceptibility to, 2?", "seeds": [ "Asperger syndrome, susceptibility to, 2" ], "gold_answer": "Restrictive behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01075", "question": "What is associated with Decreased sweating due to autonomic dysfunction?", "seeds": [ "Decreased sweating due to autonomic dysfunction" ], "gold_answer": "Hypohidrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01076", "question": "What is associated with Epidermal acanthosis?", "seeds": [ "Epidermal acanthosis" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01077", "question": "What is associated with Aplasia of the 3rd metacarpal?", "seeds": [ "Aplasia of the 3rd metacarpal" ], "gold_answer": "Abnormal 3rd metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01078", "question": "What is associated with Butterfly vertebral arch?", "seeds": [ "Butterfly vertebral arch" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01079", "question": "What is associated with Increased circulating heparan sulfate level?", "seeds": [ "Increased circulating heparan sulfate level" ], "gold_answer": "Abnormal circulating heparan sulfate level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01080", "question": "What is associated with Specific anosmia?", "seeds": [ "Specific anosmia" ], "gold_answer": "Abnormality of the sense of smell", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01081", "question": "What phenotype is associated with Dihydropyrimidinuria?", "seeds": [ "Dihydropyrimidinuria" ], "gold_answer": "Elevated circulating alanine aminotransferase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01082", "question": "What is associated with Hepatic reticuloendothelial system cell iron deposition?", "seeds": [ "Hepatic reticuloendothelial system cell iron deposition" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01083", "question": "What is associated with Rh deficiency syndrome?", "seeds": [ "Rh deficiency syndrome" ], "gold_answer": "Anemia of inadequate production", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01084", "question": "What is associated with Cryptococcal meningitis?", "seeds": [ "Cryptococcal meningitis" ], "gold_answer": "Meningitis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01085", "question": "What is associated with Oral melanoacanthoma?", "seeds": [ "Oral melanoacanthoma" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01086", "question": "What phenotype is associated with Vitamin B12-unresponsive methylmalonic acidemia type mut0?", "seeds": [ "Vitamin B12-unresponsive methylmalonic acidemia type mut0" ], "gold_answer": "Chorea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01087", "question": "What is associated with Hyaloid vascular remnant and retrolental mass?", "seeds": [ "Hyaloid vascular remnant and retrolental mass" ], "gold_answer": "Remnants of the hyaloid vascular system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01088", "question": "What is associated with Deafness, autosomal dominant 40?", "seeds": [ "Deafness, autosomal dominant 40" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01089", "question": "What is associated with Abnormality of the vasculature of the eye?", "seeds": [ "Abnormality of the vasculature of the eye" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01090", "question": "What is associated with CSF varicella zoster antibody positivity?", "seeds": [ "CSF varicella zoster antibody positivity" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01091", "question": "What is associated with Brachydactyly, type A4?", "seeds": [ "Brachydactyly, type A4" ], "gold_answer": "Short 5th finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01092", "question": "What phenotype is associated with SLC35A2-CDG?", "seeds": [ "SLC35A2-CDG" ], "gold_answer": "Broad forehead", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01093", "question": "What phenotype is associated with Spastic paraplegia 13, autosomal dominant?", "seeds": [ "Spastic paraplegia 13, autosomal dominant" ], "gold_answer": "Urinary bladder sphincter dysfunction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01094", "question": "What is associated with Weill-Marchesani syndrome?", "seeds": [ "Weill-Marchesani syndrome" ], "gold_answer": "Abnormality of lens shape", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01095", "question": "What phenotype is associated with Cone-Rod dystrophy 6?", "seeds": [ "Cone-Rod dystrophy 6" ], "gold_answer": "Cone/cone-rod dystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01096", "question": "What is associated with EEG with burst suppression?", "seeds": [ "EEG with burst suppression" ], "gold_answer": "EEG with generalized epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01097", "question": "What phenotype is associated with Congenital disorder of glycosylation, type 1DD?", "seeds": [ "Congenital disorder of glycosylation, type 1DD" ], "gold_answer": "Splenomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01098", "question": "What phenotype is associated with Amelogenesis imperfecta, type IH?", "seeds": [ "Amelogenesis imperfecta, type IH" ], "gold_answer": "Amelogenesis imperfecta", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01099", "question": "What is associated with Vitamin D-dependent rickets, type I?", "seeds": [ "Vitamin D-dependent rickets, type I" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01100", "question": "What is associated with Abnormal DLCO?", "seeds": [ "Abnormal DLCO" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01101", "question": "What is associated with Short mandibular rami?", "seeds": [ "Short mandibular rami" ], "gold_answer": "Abnormal mandibular ramus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01102", "question": "What is associated with Podocyte microvillous transformation?", "seeds": [ "Podocyte microvillous transformation" ], "gold_answer": "Abnormal Bowman capsule morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01103", "question": "What is associated with Pustule?", "seeds": [ "Pustule" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01104", "question": "What is associated with Lymphedema-Distichiasis syndrome?", "seeds": [ "Lymphedema-Distichiasis syndrome" ], "gold_answer": "GJA5", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_dev_01105", "question": "What is associated with Congenital mesoblastic nephroma?", "seeds": [ "Congenital mesoblastic nephroma" ], "gold_answer": "NTRK3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "part_of_a_fusion_gene_in" } }, { "query_id": "orph_dev_01106", "question": "What is associated with Argyrophilic inclusion bodies?", "seeds": [ "Argyrophilic inclusion bodies" ], "gold_answer": "Cerebral inclusion bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01107", "question": "What phenotype is associated with Infantile liver failure syndrome 1?", "seeds": [ "Infantile liver failure syndrome 1" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01108", "question": "What phenotype is associated with Deafness, X-linked 5?", "seeds": [ "Deafness, X-linked 5" ], "gold_answer": "Tinnitus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01109", "question": "What is associated with Widow's peak?", "seeds": [ "Widow's peak" ], "gold_answer": "Abnormality of the hairline", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01110", "question": "What is associated with Severe Epstein Barr virus infection?", "seeds": [ "Severe Epstein Barr virus infection" ], "gold_answer": "Severe viral infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01111", "question": "What phenotype is associated with Rhabdomyosarcoma, embryonal, 2?", "seeds": [ "Rhabdomyosarcoma, embryonal, 2" ], "gold_answer": "Ovarian thecoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01112", "question": "What is associated with Myoclonic epilepsy of Lafora 2?", "seeds": [ "Myoclonic epilepsy of Lafora 2" ], "gold_answer": "Mental deterioration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01113", "question": "What phenotype is associated with Holoprosencephaly 4?", "seeds": [ "Holoprosencephaly 4" ], "gold_answer": "Median cleft upper lip", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01114", "question": "What phenotype is associated with Crossed polysyndactyly?", "seeds": [ "Crossed polysyndactyly" ], "gold_answer": "Abnormality of the philtrum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01115", "question": "What is associated with Reduced sulfide:quinone oxidoreductase activity?", "seeds": [ "Reduced sulfide:quinone oxidoreductase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01116", "question": "What is associated with Immunodeficiency 125?", "seeds": [ "Immunodeficiency 125" ], "gold_answer": "Recurrent acute respiratory tract infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01117", "question": "What is associated with VACTERL/VATER association?", "seeds": [ "VACTERL/VATER association" ], "gold_answer": "Abnormal forearm bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01118", "question": "What is associated with EAST syndrome?", "seeds": [ "EAST syndrome" ], "gold_answer": "Limb muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01119", "question": "What is associated with Bilateral conductive hearing impairment?", "seeds": [ "Bilateral conductive hearing impairment" ], "gold_answer": "Abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01120", "question": "What is associated with Familial adenomatous polyposis 4?", "seeds": [ "Familial adenomatous polyposis 4" ], "gold_answer": "Neuroepithelial neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01121", "question": "What is associated with Anonychia with flexural pigmentation?", "seeds": [ "Anonychia with flexural pigmentation" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01122", "question": "What is associated with Congenital disorder of glycosylation, type IIg?", "seeds": [ "Congenital disorder of glycosylation, type IIg" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01123", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 85, with or without midline brain defects?", "seeds": [ "Developmental and epileptic encephalopathy 85, with or without midline brain defects" ], "gold_answer": "Hirsutism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01124", "question": "What is associated with Reduced factor VIII activity?", "seeds": [ "Reduced factor VIII activity" ], "gold_answer": "Abnormality of the coagulation cascade", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01125", "question": "What is associated with Atrioventricular dissociation?", "seeds": [ "Atrioventricular dissociation" ], "gold_answer": "Cardiac conduction abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01126", "question": "What is associated with Abnormal nipple discharge?", "seeds": [ "Abnormal nipple discharge" ], "gold_answer": "Abnormality of the breast", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01127", "question": "What is associated with Spermatogenic failure 99?", "seeds": [ "Spermatogenic failure 99" ], "gold_answer": "Abnormal sperm motility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01128", "question": "What is associated with Arrhythmia?", "seeds": [ "Arrhythmia" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01129", "question": "What is associated with Oculopharyngodistal myopathy 3?", "seeds": [ "Oculopharyngodistal myopathy 3" ], "gold_answer": "Functional abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01130", "question": "What is associated with Intellectual developmental disorder, X-linked syndromic, Siderius type?", "seeds": [ "Intellectual developmental disorder, X-linked syndromic, Siderius type" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01131", "question": "What is associated with Short stature due to GHSR deficiency?", "seeds": [ "Short stature due to GHSR deficiency" ], "gold_answer": "Puberty and gonadal disorders", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01132", "question": "What is associated with Delayed tarsal ossification?", "seeds": [ "Delayed tarsal ossification" ], "gold_answer": "Abnormal foot bone ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01133", "question": "What is associated with Focal aware sensory seizure with cephalic sensation?", "seeds": [ "Focal aware sensory seizure with cephalic sensation" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01134", "question": "What is associated with Hypocalcemic tetany?", "seeds": [ "Hypocalcemic tetany" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01135", "question": "What is associated with Dilatation of renal calices?", "seeds": [ "Dilatation of renal calices" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01136", "question": "What is associated with Macronodular cirrhosis?", "seeds": [ "Macronodular cirrhosis" ], "gold_answer": "Cirrhosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01137", "question": "What is associated with Optic atrophy 6?", "seeds": [ "Optic atrophy 6" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01138", "question": "What is associated with Abnormal anterior horn cell morphology?", "seeds": [ "Abnormal anterior horn cell morphology" ], "gold_answer": "Abnormal neuron morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01139", "question": "What is associated with Posterior capsular cataract?", "seeds": [ "Posterior capsular cataract" ], "gold_answer": "Cataract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01140", "question": "What phenotype is associated with Young syndrome?", "seeds": [ "Young syndrome" ], "gold_answer": "Airway obstruction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01141", "question": "What phenotype is associated with Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome?", "seeds": [ "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01142", "question": "What is associated with Focal epileptiform discharges with limited propagation to contralateral hemisphere?", "seeds": [ "Focal epileptiform discharges with limited propagation to contralateral hemisphere" ], "gold_answer": "Interictal epileptiform activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01143", "question": "What is associated with Abnormal cardiac septum morphology?", "seeds": [ "Abnormal cardiac septum morphology" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01144", "question": "What is associated with Duchenne muscular dystrophy?", "seeds": [ "Duchenne muscular dystrophy" ], "gold_answer": "Abnormal calf musculature morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01145", "question": "What phenotype is associated with Spastic paraplegia 8, autosomal dominant?", "seeds": [ "Spastic paraplegia 8, autosomal dominant" ], "gold_answer": "Upper limb hyperreflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01146", "question": "What is associated with Focal aware autonomic seizure with erection?", "seeds": [ "Focal aware autonomic seizure with erection" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01147", "question": "What is associated with Chronic intestinal pseudoobstruction syndrome?", "seeds": [ "Chronic intestinal pseudoobstruction syndrome" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01148", "question": "What phenotype is associated with Polymicrogyria, bilateral perisylvian, X-linked?", "seeds": [ "Polymicrogyria, bilateral perisylvian, X-linked" ], "gold_answer": "Dysarthria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01149", "question": "What is associated with Nephrotic syndrome, type 22?", "seeds": [ "Nephrotic syndrome, type 22" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01150", "question": "What is associated with Episodic upper airway obstruction?", "seeds": [ "Episodic upper airway obstruction" ], "gold_answer": "Upper airway obstruction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01151", "question": "What is associated with Spastic paraplegia 11, autosomal recessive?", "seeds": [ "Spastic paraplegia 11, autosomal recessive" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01152", "question": "What is associated with KLHL9-related early-onset distal myopathy?", "seeds": [ "KLHL9-related early-onset distal myopathy" ], "gold_answer": "Areflexia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01153", "question": "What is associated with Small epiphyses of the upper limbs?", "seeds": [ "Small epiphyses of the upper limbs" ], "gold_answer": "Small epiphyses", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01154", "question": "What is associated with Abnormal perceptual state?", "seeds": [ "Abnormal perceptual state" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01155", "question": "What is associated with Broad middle phalanx of the 3rd finger?", "seeds": [ "Broad middle phalanx of the 3rd finger" ], "gold_answer": "Abnormality of the middle phalanx of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01156", "question": "What is associated with Short femoral neck?", "seeds": [ "Short femoral neck" ], "gold_answer": "Abnormal femur morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01157", "question": "What is associated with Stridor?", "seeds": [ "Stridor" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01158", "question": "What is associated with Frontotemporal dementia and/or amytrophic lateral sclerosis 7?", "seeds": [ "Frontotemporal dementia and/or amytrophic lateral sclerosis 7" ], "gold_answer": "Hypertonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01159", "question": "What phenotype is associated with Neuronal intestinal dysplasia, type B?", "seeds": [ "Neuronal intestinal dysplasia, type B" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01160", "question": "What is associated with Retinitis pigmentosa 51?", "seeds": [ "Retinitis pigmentosa 51" ], "gold_answer": "Abnormal retinal vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01161", "question": "What is associated with Monoarticular?", "seeds": [ "Monoarticular" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01162", "question": "What is associated with Severe sensorineural hearing impairment?", "seeds": [ "Severe sensorineural hearing impairment" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01163", "question": "What is associated with Atrial fibrillation, familial, 15?", "seeds": [ "Atrial fibrillation, familial, 15" ], "gold_answer": "Atrial arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01164", "question": "What is associated with Drowsiness?", "seeds": [ "Drowsiness" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01165", "question": "What is associated with Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect?", "seeds": [ "Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01166", "question": "What phenotype is associated with IFAP syndrome with or without BRESHECK syndrome?", "seeds": [ "IFAP syndrome with or without BRESHECK syndrome" ], "gold_answer": "Ectrodactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01167", "question": "What is associated with Anti-Ri antibody?", "seeds": [ "Anti-Ri antibody" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01168", "question": "What is associated with Neurodegeneration with brain iron accumulation 7?", "seeds": [ "Neurodegeneration with brain iron accumulation 7" ], "gold_answer": "Appendicular spasticity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01169", "question": "What is associated with Abnormality of the intrinsic pathway?", "seeds": [ "Abnormality of the intrinsic pathway" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01170", "question": "What is associated with Cardiac myxoma?", "seeds": [ "Cardiac myxoma" ], "gold_answer": "Neoplasm of the heart", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01171", "question": "What is associated with Maple syrup urine disease, type Ib?", "seeds": [ "Maple syrup urine disease, type Ib" ], "gold_answer": "Abnormal circulating valine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01172", "question": "What phenotype is associated with Leber congenital amaurosis 9?", "seeds": [ "Leber congenital amaurosis 9" ], "gold_answer": "Photophobia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01173", "question": "What is associated with Seborrhoeic blepharitis?", "seeds": [ "Seborrhoeic blepharitis" ], "gold_answer": "Posterior blepharitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01174", "question": "What is associated with Stiff wrist?", "seeds": [ "Stiff wrist" ], "gold_answer": "Limitation of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01175", "question": "What is associated with Abnormal renal cortex morphology?", "seeds": [ "Abnormal renal cortex morphology" ], "gold_answer": "Abnormality of the upper urinary tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01176", "question": "What phenotype is associated with Mitochondrial complex I deficiency, nuclear type 3?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 3" ], "gold_answer": "Hyperreflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01177", "question": "What is associated with Metacarpophalangeal joint contracture?", "seeds": [ "Metacarpophalangeal joint contracture" ], "gold_answer": "Abnormal metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01178", "question": "What phenotype is associated with Renal coloboma syndrome?", "seeds": [ "Renal coloboma syndrome" ], "gold_answer": "Multicystic kidney dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01179", "question": "What is associated with Trophic changes related to pain?", "seeds": [ "Trophic changes related to pain" ], "gold_answer": "Abnormality of pain sensation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01180", "question": "What is associated with Undetectable visual evoked potentials?", "seeds": [ "Undetectable visual evoked potentials" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01181", "question": "What phenotype is associated with Ciliary dyskinesia, primary, 17?", "seeds": [ "Ciliary dyskinesia, primary, 17" ], "gold_answer": "Meckel diverticulum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01182", "question": "What phenotype is associated with Dyskinesia, limb and orofacial, infantile-onset?", "seeds": [ "Dyskinesia, limb and orofacial, infantile-onset" ], "gold_answer": "Tremor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01183", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal recessive 9/26?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 9/26" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01184", "question": "What is associated with Flat palate?", "seeds": [ "Flat palate" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01185", "question": "What is associated with Hematemesis?", "seeds": [ "Hematemesis" ], "gold_answer": "Gastrointestinal hemorrhage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01186", "question": "What is associated with Cellular non-specific interstitial pneumonia?", "seeds": [ "Cellular non-specific interstitial pneumonia" ], "gold_answer": "Interstitial pneumonitis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01187", "question": "What is associated with Astley-Kendall dysplasia?", "seeds": [ "Astley-Kendall dysplasia" ], "gold_answer": "Abnormal epiphyseal ossification", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01188", "question": "What phenotype is associated with WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome?", "seeds": [ "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" ], "gold_answer": "Anterior hypopituitarism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01189", "question": "What is associated with Large joint hypermobilty?", "seeds": [ "Large joint hypermobilty" ], "gold_answer": "Abnormal joint physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01190", "question": "What phenotype is associated with Epilepsy, familial focal, with variable foci 2?", "seeds": [ "Epilepsy, familial focal, with variable foci 2" ], "gold_answer": "Focal cortical dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01191", "question": "What is associated with Abnormal mouth floor morphology?", "seeds": [ "Abnormal mouth floor morphology" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01192", "question": "What phenotype is associated with Microcornea-glaucoma-absent frontal sinuses syndrome?", "seeds": [ "Microcornea-glaucoma-absent frontal sinuses syndrome" ], "gold_answer": "Palmoplantar keratoderma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01193", "question": "What is associated with Parotitis?", "seeds": [ "Parotitis" ], "gold_answer": "Abnormal salivary gland morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01194", "question": "What is associated with Chronic decreased circulating IgG1?", "seeds": [ "Chronic decreased circulating IgG1" ], "gold_answer": "Decreased circulating IgG concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01195", "question": "What is associated with Infratentorial superficial CNS hemosiderin deposition?", "seeds": [ "Infratentorial superficial CNS hemosiderin deposition" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01196", "question": "What phenotype is associated with SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6?", "seeds": [ "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01197", "question": "What is associated with Head tremor?", "seeds": [ "Head tremor" ], "gold_answer": "Tremor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01198", "question": "What is associated with Absent epiphysis of the distal phalanx of the 5th finger?", "seeds": [ "Absent epiphysis of the distal phalanx of the 5th finger" ], "gold_answer": "Absent epiphyses of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01199", "question": "What is associated with Decreased acid ceramidase activity?", "seeds": [ "Decreased acid ceramidase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01200", "question": "What is associated with Ichthyosis, Bullous type?", "seeds": [ "Ichthyosis, Bullous type" ], "gold_answer": "Congenital ichthyosiform erythroderma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01201", "question": "What is associated with Head and neck distribution?", "seeds": [ "Head and neck distribution" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01202", "question": "What is associated with Esophageal diverticulum?", "seeds": [ "Esophageal diverticulum" ], "gold_answer": "Abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01203", "question": "What phenotype is associated with 5q35 microduplication syndrome?", "seeds": [ "5q35 microduplication syndrome" ], "gold_answer": "Specific learning disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01204", "question": "What is associated with Blue nevus?", "seeds": [ "Blue nevus" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01205", "question": "What is associated with Absent hand?", "seeds": [ "Absent hand" ], "gold_answer": "Transverse terminal upper limb defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01206", "question": "What is associated with Elevated urinary methylmalonylcarnitine level?", "seeds": [ "Elevated urinary methylmalonylcarnitine level" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01207", "question": "What is associated with Aortic valve atresia?", "seeds": [ "Aortic valve atresia" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01208", "question": "What is associated with Decreased circulating ferritin concentration?", "seeds": [ "Decreased circulating ferritin concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01209", "question": "What is associated with Decreased QRS voltage?", "seeds": [ "Decreased QRS voltage" ], "gold_answer": "Abnormal QRS complex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01210", "question": "What is associated with Hydrocephaly-tall stature-joint laxity syndrome?", "seeds": [ "Hydrocephaly-tall stature-joint laxity syndrome" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01211", "question": "What is associated with Focal aware cognitive seizure with expressive dysphasia/aphasia?", "seeds": [ "Focal aware cognitive seizure with expressive dysphasia/aphasia" ], "gold_answer": "Focal aware non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01212", "question": "What phenotype is associated with Mitochondrial complex I deficiency, nuclear type 11?", "seeds": [ "Mitochondrial complex I deficiency, nuclear type 11" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01213", "question": "What is associated with Parkinson disease 24, autosomal dominant, susceptibility to?", "seeds": [ "Parkinson disease 24, autosomal dominant, susceptibility to" ], "gold_answer": "Tremor", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01214", "question": "What is associated with Hordeolum internum?", "seeds": [ "Hordeolum internum" ], "gold_answer": "Nodular changes affecting the eyelids", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01215", "question": "What is associated with Short 5th finger?", "seeds": [ "Short 5th finger" ], "gold_answer": "Short digit", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01216", "question": "What is associated with Retinal peau d'orange?", "seeds": [ "Retinal peau d'orange" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01217", "question": "What is associated with Zonular cataract?", "seeds": [ "Zonular cataract" ], "gold_answer": "Abnormal lens morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01218", "question": "What is associated with Disproportionate short stature?", "seeds": [ "Disproportionate short stature" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01219", "question": "What is associated with Abnormality of alkaline phosphatase level?", "seeds": [ "Abnormality of alkaline phosphatase level" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01220", "question": "What is associated with Genital warts?", "seeds": [ "Genital warts" ], "gold_answer": "Papilloma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01221", "question": "What is associated with Decreased CSF 5-hydroxyindoleacetic acid concentration?", "seeds": [ "Decreased CSF 5-hydroxyindoleacetic acid concentration" ], "gold_answer": "Abnormal CSF metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01222", "question": "What is associated with Gastrointestinal telangiectasia?", "seeds": [ "Gastrointestinal telangiectasia" ], "gold_answer": "Abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01223", "question": "What is associated with Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency?", "seeds": [ "Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency" ], "gold_answer": "IL6ST", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_dev_01224", "question": "What is associated with Periventricular nodular heterotopia 8?", "seeds": [ "Periventricular nodular heterotopia 8" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01225", "question": "What is associated with Luse bodies?", "seeds": [ "Luse bodies" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01226", "question": "What phenotype is associated with Cardiomyopathy, familial hypertrophic, 25?", "seeds": [ "Cardiomyopathy, familial hypertrophic, 25" ], "gold_answer": "Left ventricular hypertrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01227", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 68?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 68" ], "gold_answer": "Leukoencephalopathy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01228", "question": "What is associated with Foot acroosteolysis?", "seeds": [ "Foot acroosteolysis" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01229", "question": "What phenotype is associated with Alazami-Yuan syndrome?", "seeds": [ "Alazami-Yuan syndrome" ], "gold_answer": "Low hanging columella", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01230", "question": "What is associated with Glycosylphosphatidylinositol biosynthesis defect 25?", "seeds": [ "Glycosylphosphatidylinositol biosynthesis defect 25" ], "gold_answer": "Foot joint contracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01231", "question": "What is associated with Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency?", "seeds": [ "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01232", "question": "What is associated with Nausea and vomiting?", "seeds": [ "Nausea and vomiting" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01233", "question": "What is associated with Irregular chondrocostal junctions?", "seeds": [ "Irregular chondrocostal junctions" ], "gold_answer": "Abnormality of the costochondral junction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01234", "question": "What phenotype is associated with Pyoderma gangrenosum?", "seeds": [ "Pyoderma gangrenosum" ], "gold_answer": "Abnormal blistering of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01235", "question": "What is associated with Anti-GD1a IgM antibody positivity?", "seeds": [ "Anti-GD1a IgM antibody positivity" ], "gold_answer": "Anti-GD1a antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01236", "question": "What phenotype is associated with Cerebral angiopathy, dysphoric?", "seeds": [ "Cerebral angiopathy, dysphoric" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01237", "question": "What is associated with Cranial nerve motor loss?", "seeds": [ "Cranial nerve motor loss" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01238", "question": "What is associated with Abnormal acetabulum morphology?", "seeds": [ "Abnormal acetabulum morphology" ], "gold_answer": "Abnormal hip joint morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01239", "question": "What is associated with Reduced CSF pyridoxal-5'-phosphate concentration?", "seeds": [ "Reduced CSF pyridoxal-5'-phosphate concentration" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01240", "question": "What is associated with Impaired ristocetin-induced platelet aggregation?", "seeds": [ "Impaired ristocetin-induced platelet aggregation" ], "gold_answer": "Abnormality of the coagulation cascade", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01241", "question": "What is associated with Delayed onset bleeding?", "seeds": [ "Delayed onset bleeding" ], "gold_answer": "Abnormal bleeding", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01242", "question": "What is associated with History of recent tick bite?", "seeds": [ "History of recent tick bite" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01243", "question": "What phenotype is associated with Left ventricular noncompaction 8?", "seeds": [ "Left ventricular noncompaction 8" ], "gold_answer": "Left ventricular noncompaction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01244", "question": "What phenotype is associated with Familial multiple trichoepithelioma?", "seeds": [ "Familial multiple trichoepithelioma" ], "gold_answer": "Subcutaneous nodule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01245", "question": "What is associated with Dilatation of the bladder?", "seeds": [ "Dilatation of the bladder" ], "gold_answer": "Abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01246", "question": "What is associated with Hypoautofluorescent retinal lesion?", "seeds": [ "Hypoautofluorescent retinal lesion" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01247", "question": "What is associated with Polymorphic focal epileptiform discharges?", "seeds": [ "Polymorphic focal epileptiform discharges" ], "gold_answer": "Interictal epileptiform activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01248", "question": "What is associated with Hutchinson-Gilford progeria syndrome?", "seeds": [ "Hutchinson-Gilford progeria syndrome" ], "gold_answer": "Aplasia/Hypoplasia of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01249", "question": "What phenotype is associated with McKusick-Kaufman syndrome?", "seeds": [ "McKusick-Kaufman syndrome" ], "gold_answer": "Multicystic kidney dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01250", "question": "What is associated with Benign paroxysmal tonic upgaze of childhood with ataxia?", "seeds": [ "Benign paroxysmal tonic upgaze of childhood with ataxia" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01251", "question": "What is associated with Bullet-shaped middle phalanx of the 2nd toe?", "seeds": [ "Bullet-shaped middle phalanx of the 2nd toe" ], "gold_answer": "Abnormality of the middle phalanx of the 2nd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01252", "question": "What is associated with Ciliary dyskinesia, primary, 19?", "seeds": [ "Ciliary dyskinesia, primary, 19" ], "gold_answer": "Abnormal respiratory motile cilium physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01253", "question": "What is associated with Entrapment neuropathy of suprascapular nerve?", "seeds": [ "Entrapment neuropathy of suprascapular nerve" ], "gold_answer": "Abnormal peripheral nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01254", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked 30?", "seeds": [ "Intellectual developmental disorder, X-linked 30" ], "gold_answer": "Delayed ability to walk", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01255", "question": "What is associated with Riboflavin deficiency?", "seeds": [ "Riboflavin deficiency" ], "gold_answer": "Abnormal circulating fatty-acid anion concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01256", "question": "What is associated with Lytic defects of the radius?", "seeds": [ "Lytic defects of the radius" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01257", "question": "What is associated with Hypoplastic right atrium?", "seeds": [ "Hypoplastic right atrium" ], "gold_answer": "Abnormal right atrium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01258", "question": "What is associated with Moderate expressive language delay?", "seeds": [ "Moderate expressive language delay" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01259", "question": "What is associated with Partial duplication of the phalanges of the 3rd finger?", "seeds": [ "Partial duplication of the phalanges of the 3rd finger" ], "gold_answer": "Mesoaxial hand polydactyly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01260", "question": "What is associated with Hypoglycemic encephalopathy?", "seeds": [ "Hypoglycemic encephalopathy" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01261", "question": "What phenotype is associated with Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome?", "seeds": [ "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome" ], "gold_answer": "Abnormal dermatoglyphics", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01262", "question": "What is associated with Pulmonary sequestration?", "seeds": [ "Pulmonary sequestration" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01263", "question": "What is associated with Rhinitis?", "seeds": [ "Rhinitis" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01264", "question": "What phenotype is associated with Leber congenital amaurosis 7?", "seeds": [ "Leber congenital amaurosis 7" ], "gold_answer": "Keratoconus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01265", "question": "What is associated with Bilateral talipes equinovarus?", "seeds": [ "Bilateral talipes equinovarus" ], "gold_answer": "Positional foot deformity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01266", "question": "What is associated with Proximal tibial hypoplasia?", "seeds": [ "Proximal tibial hypoplasia" ], "gold_answer": "Aplasia/Hypoplasia of the tibia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01267", "question": "What is associated with Dubowitz syndrome?", "seeds": [ "Dubowitz syndrome" ], "gold_answer": "Leukemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01268", "question": "What is associated with Leukodystrophy, hypomyelinating, 5?", "seeds": [ "Leukodystrophy, hypomyelinating, 5" ], "gold_answer": "Abnormal motor nerve conduction velocity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01269", "question": "What is associated with Osteogenesis imperfecta, type XII?", "seeds": [ "Osteogenesis imperfecta, type XII" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01270", "question": "What phenotype is associated with Uremic pruritus?", "seeds": [ "Uremic pruritus" ], "gold_answer": "Depression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01271", "question": "What is associated with Hypoproteinemia?", "seeds": [ "Hypoproteinemia" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01272", "question": "What is associated with Reduced imaginative play skills?", "seeds": [ "Reduced imaginative play skills" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01273", "question": "What is associated with Lipase deficiency, combined?", "seeds": [ "Lipase deficiency, combined" ], "gold_answer": "Glucose intolerance", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01274", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 6?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 6" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01275", "question": "What is associated with 19p13.3 microduplication syndrome?", "seeds": [ "19p13.3 microduplication syndrome" ], "gold_answer": "Slanting of the palpebral fissure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01276", "question": "What is associated with Incoordination?", "seeds": [ "Incoordination" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01277", "question": "What is associated with Aplasia/Hypoplasia of the colon?", "seeds": [ "Aplasia/Hypoplasia of the colon" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01278", "question": "What is associated with Focal impaired awareness cognitive seizure with anomia?", "seeds": [ "Focal impaired awareness cognitive seizure with anomia" ], "gold_answer": "Focal impaired awareness non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01279", "question": "What is associated with Junctional epidermolysis bullosa inversa?", "seeds": [ "Junctional epidermolysis bullosa inversa" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01280", "question": "What is associated with Dental malocclusion?", "seeds": [ "Dental malocclusion" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01281", "question": "What is associated with Fragile skin?", "seeds": [ "Fragile skin" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01282", "question": "What is associated with Positive bloodstream Borrelia miyamotoi nucleic acid test?", "seeds": [ "Positive bloodstream Borrelia miyamotoi nucleic acid test" ], "gold_answer": "Positive bloodstream nucleic acid pathogen test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01283", "question": "What is associated with Spondyloperipheral dysplasia-short ulna syndrome?", "seeds": [ "Spondyloperipheral dysplasia-short ulna syndrome" ], "gold_answer": "Abnormal pelvis bone ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01284", "question": "What phenotype is associated with Subcorneal pustular dermatosis?", "seeds": [ "Subcorneal pustular dermatosis" ], "gold_answer": "Bone pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01285", "question": "What is associated with Protein avoidance?", "seeds": [ "Protein avoidance" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01286", "question": "What is associated with Rhizomelic chondrodysplasia punctata, type 5?", "seeds": [ "Rhizomelic chondrodysplasia punctata, type 5" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01287", "question": "What is associated with Arthrogryposis multiplex congenita?", "seeds": [ "Arthrogryposis multiplex congenita" ], "gold_answer": "Joint contracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01288", "question": "What phenotype is associated with Stickler syndrome?", "seeds": [ "Stickler syndrome" ], "gold_answer": "Retinal hole", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01289", "question": "What is associated with Aortic stiffness?", "seeds": [ "Aortic stiffness" ], "gold_answer": "Abnormal arterial physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01290", "question": "What is associated with Excessive skin wrinkling on dorsum of hands and fingers?", "seeds": [ "Excessive skin wrinkling on dorsum of hands and fingers" ], "gold_answer": "Abnormal elasticity of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01291", "question": "What is associated with Griscelli syndrome type 3?", "seeds": [ "Griscelli syndrome type 3" ], "gold_answer": "Abnormal iris pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01292", "question": "What phenotype is associated with Charcot-Marie-Tooth disease, demyelinating, type 1C?", "seeds": [ "Charcot-Marie-Tooth disease, demyelinating, type 1C" ], "gold_answer": "Distal sensory impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01293", "question": "What is associated with Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency?", "seeds": [ "Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency" ], "gold_answer": "NALCN", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_01294", "question": "What is associated with Abnormal male urethral meatus morphology?", "seeds": [ "Abnormal male urethral meatus morphology" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01295", "question": "What is associated with Nasogastric tube feeding in infancy?", "seeds": [ "Nasogastric tube feeding in infancy" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01296", "question": "What is associated with Decreased circulating alkaline phosphatase activity?", "seeds": [ "Decreased circulating alkaline phosphatase activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01297", "question": "What is associated with Abnormal circulating hepatic transaminase concentration?", "seeds": [ "Abnormal circulating hepatic transaminase concentration" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01298", "question": "What is associated with Autosomal recessive spastic paraplegia type 9B?", "seeds": [ "Autosomal recessive spastic paraplegia type 9B" ], "gold_answer": "Decreased head circumference", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01299", "question": "What is associated with Decreased vigilance?", "seeds": [ "Decreased vigilance" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01300", "question": "What phenotype is associated with Drug-induced localized lipodystrophy?", "seeds": [ "Drug-induced localized lipodystrophy" ], "gold_answer": "Hyperpigmentation of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01301", "question": "What is associated with Toe symphalangism?", "seeds": [ "Toe symphalangism" ], "gold_answer": "Synostosis involving bones of the lower limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01302", "question": "What is associated with Diffuse cerebral calcification?", "seeds": [ "Diffuse cerebral calcification" ], "gold_answer": "Cerebral calcification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01303", "question": "What is associated with Macroorchidism?", "seeds": [ "Macroorchidism" ], "gold_answer": "Abnormal testis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01304", "question": "What is associated with Reduced consciousness?", "seeds": [ "Reduced consciousness" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01305", "question": "What is associated with Aplasia/Hypoplasia of the phalanges of the 3rd toe?", "seeds": [ "Aplasia/Hypoplasia of the phalanges of the 3rd toe" ], "gold_answer": "Abnormality of the phalanges of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01306", "question": "What is associated with Polyclonal elevation of IgM?", "seeds": [ "Polyclonal elevation of IgM" ], "gold_answer": "Abnormal circulating IgM concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01307", "question": "What is associated with Cortical radial artery intraluminal thrombi?", "seeds": [ "Cortical radial artery intraluminal thrombi" ], "gold_answer": "Abnormal cortical radial artery lumen morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01308", "question": "What phenotype is associated with Gastric adenocarcinoma and proximal polyposis of the stomach?", "seeds": [ "Gastric adenocarcinoma and proximal polyposis of the stomach" ], "gold_answer": "Abdominal pain", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01309", "question": "What is associated with Abnormality of the epiphysis of the distal phalanx of the 3rd finger?", "seeds": [ "Abnormality of the epiphysis of the distal phalanx of the 3rd finger" ], "gold_answer": "Abnormality of the distal phalanx of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01310", "question": "What is associated with Aplasia of the distal phalanx of the thumb?", "seeds": [ "Aplasia of the distal phalanx of the thumb" ], "gold_answer": "Abnormal thumb morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01311", "question": "What is associated with Action tremor?", "seeds": [ "Action tremor" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01312", "question": "What is associated with Abnormal salivary metabolite concentration?", "seeds": [ "Abnormal salivary metabolite concentration" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01313", "question": "What is associated with Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome?", "seeds": [ "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01314", "question": "What is associated with Posterior blepharitis?", "seeds": [ "Posterior blepharitis" ], "gold_answer": "Inflammatory abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01315", "question": "What is associated with Scapular winging?", "seeds": [ "Scapular winging" ], "gold_answer": "Abnormal scapula morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01316", "question": "What is associated with Neurodevelopmental disorder with speech delay and variable ocular anomalies?", "seeds": [ "Neurodevelopmental disorder with speech delay and variable ocular anomalies" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01317", "question": "What is associated with Hyposegmentation of neutrophil nuclei in CSF?", "seeds": [ "Hyposegmentation of neutrophil nuclei in CSF" ], "gold_answer": "Abnormal cerebrospinal fluid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01318", "question": "What is associated with Spermatogenic failure 63?", "seeds": [ "Spermatogenic failure 63" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01319", "question": "What is associated with Stiff wrist?", "seeds": [ "Stiff wrist" ], "gold_answer": "Joint stiffness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01320", "question": "What is associated with Autoinflammatory-pancytopenia syndrome?", "seeds": [ "Autoinflammatory-pancytopenia syndrome" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01321", "question": "What is associated with Abnormal morphology of the conjunctival vasculature?", "seeds": [ "Abnormal morphology of the conjunctival vasculature" ], "gold_answer": "Abnormal conjunctiva morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01322", "question": "What is associated with Tall stature?", "seeds": [ "Tall stature" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01323", "question": "What is associated with Childhood absence epilepsy?", "seeds": [ "Childhood absence epilepsy" ], "gold_answer": "Short attention span", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01324", "question": "What is associated with Steppage gait?", "seeds": [ "Steppage gait" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01325", "question": "What is associated with Deafness-encephaloneuropathy-obesity-valvulopathy syndrome?", "seeds": [ "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome" ], "gold_answer": "PDSS1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_01326", "question": "What is associated with Type II pneumocyte hypertrophy?", "seeds": [ "Type II pneumocyte hypertrophy" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01327", "question": "What phenotype is associated with Vertical talus, congenital?", "seeds": [ "Vertical talus, congenital" ], "gold_answer": "Arthritis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01328", "question": "What is associated with Hemifacial hypoplasia?", "seeds": [ "Hemifacial hypoplasia" ], "gold_answer": "Facial asymmetry", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01329", "question": "What is associated with Acetabular erosions?", "seeds": [ "Acetabular erosions" ], "gold_answer": "Abnormal acetabulum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01330", "question": "What is associated with Abnormal circulating lipoprotein(a) concentration?", "seeds": [ "Abnormal circulating lipoprotein(a) concentration" ], "gold_answer": "Abnormality of lipoprotein cholesterol concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01331", "question": "What is associated with Fetal hydrothorax?", "seeds": [ "Fetal hydrothorax" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01332", "question": "What is associated with Keratosis linearis with ichthyosis congenita and sclerosing keratoderma?", "seeds": [ "Keratosis linearis with ichthyosis congenita and sclerosing keratoderma" ], "gold_answer": "ABCA12", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_01333", "question": "What is associated with Absent fifth metatarsal?", "seeds": [ "Absent fifth metatarsal" ], "gold_answer": "Absent metatarsal bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01334", "question": "What is associated with Infantile liver failure syndrome 3?", "seeds": [ "Infantile liver failure syndrome 3" ], "gold_answer": "Hepatic fibrosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01335", "question": "What is associated with Deficit in grammar?", "seeds": [ "Deficit in grammar" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01336", "question": "What is associated with Neuroectodermal neoplasm?", "seeds": [ "Neuroectodermal neoplasm" ], "gold_answer": "Neoplasm by histology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01337", "question": "What is associated with Fasciculations?", "seeds": [ "Fasciculations" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01338", "question": "What is associated with Keratoconus posticus circumscriptus?", "seeds": [ "Keratoconus posticus circumscriptus" ], "gold_answer": "Decreased corneal thickness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01339", "question": "What is associated with Small epiphysis of the middle phalanx of the 5th toe?", "seeds": [ "Small epiphysis of the middle phalanx of the 5th toe" ], "gold_answer": "Abnormality of the epiphysis of the middle phalanx of the 5th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01340", "question": "What phenotype is associated with Focal facial dermal dysplasia type III?", "seeds": [ "Focal facial dermal dysplasia type III" ], "gold_answer": "Redundant skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01341", "question": "What is associated with Hypoplastic nipples?", "seeds": [ "Hypoplastic nipples" ], "gold_answer": "Abnormal nipple morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01342", "question": "What is associated with Congenital unilateral hypoplasia of depressor anguli oris?", "seeds": [ "Congenital unilateral hypoplasia of depressor anguli oris" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01343", "question": "What is associated with Patchy sclerosis of the middle phalanx of the 3rd toe?", "seeds": [ "Patchy sclerosis of the middle phalanx of the 3rd toe" ], "gold_answer": "Abnormal third toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01344", "question": "What is associated with Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome?", "seeds": [ "Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome" ], "gold_answer": "Abnormal 5th metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01345", "question": "What is associated with Palatal tremor?", "seeds": [ "Palatal tremor" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01346", "question": "What is associated with Conjugated hyperbilirubinemia?", "seeds": [ "Conjugated hyperbilirubinemia" ], "gold_answer": "Hyperbilirubinemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01347", "question": "What is associated with Multifocal seizures?", "seeds": [ "Multifocal seizures" ], "gold_answer": "Focal-onset seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01348", "question": "What is associated with Deafness, autosomal recessive 122?", "seeds": [ "Deafness, autosomal recessive 122" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01349", "question": "What is associated with Parosmia?", "seeds": [ "Parosmia" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01350", "question": "What is associated with Late inspiratory crackles?", "seeds": [ "Late inspiratory crackles" ], "gold_answer": "Inspiratory crackles", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01351", "question": "What is associated with Renal-hepatic-pancreatic dysplasia?", "seeds": [ "Renal-hepatic-pancreatic dysplasia" ], "gold_answer": "Vaginal fistula", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01352", "question": "What phenotype is associated with DNAJB6-related limb-girdle muscular dystrophy D1?", "seeds": [ "DNAJB6-related limb-girdle muscular dystrophy D1" ], "gold_answer": "Rimmed vacuoles", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01353", "question": "What is associated with Tubular accumulation of uromodulin?", "seeds": [ "Tubular accumulation of uromodulin" ], "gold_answer": "Abnormal renal tubule morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01354", "question": "What is associated with Limb fasciculations?", "seeds": [ "Limb fasciculations" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01355", "question": "What is associated with Distal radial epiphyseal osteolysis?", "seeds": [ "Distal radial epiphyseal osteolysis" ], "gold_answer": "Abnormal morphology of the radius", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01356", "question": "What is associated with Palmoplantar scaling skin?", "seeds": [ "Palmoplantar scaling skin" ], "gold_answer": "Scaling skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01357", "question": "What is associated with Chronic decreased circulating IgD?", "seeds": [ "Chronic decreased circulating IgD" ], "gold_answer": "Abnormal circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01358", "question": "What is associated with Elevated monolysocardiolipin/cardiolipin ratio?", "seeds": [ "Elevated monolysocardiolipin/cardiolipin ratio" ], "gold_answer": "Abnormal circulating phospholipid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01359", "question": "What is associated with Hypoplastic ischiopubic ramus?", "seeds": [ "Hypoplastic ischiopubic ramus" ], "gold_answer": "Aplasia/Hypoplasia of the pubic bone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01360", "question": "What is associated with Second toe symphalangism?", "seeds": [ "Second toe symphalangism" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01361", "question": "What phenotype is associated with Neuronopathy, distal hereditary motor, type IIC?", "seeds": [ "Neuronopathy, distal hereditary motor, type IIC" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01362", "question": "What is associated with Abnormal visual accommodation?", "seeds": [ "Abnormal visual accommodation" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01363", "question": "What is associated with Punctate palmoplantar keratoderma type 1?", "seeds": [ "Punctate palmoplantar keratoderma type 1" ], "gold_answer": "AAGAB", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_dev_01364", "question": "What is associated with Abnormality of the abdominal organs?", "seeds": [ "Abnormality of the abdominal organs" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01365", "question": "What is associated with Brachydactyly, preaxial, with hallux varus and thumb abduction?", "seeds": [ "Brachydactyly, preaxial, with hallux varus and thumb abduction" ], "gold_answer": "Deviation of the thumb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01366", "question": "What is associated with Elevated urinary 3-hydroxybutyric acid?", "seeds": [ "Elevated urinary 3-hydroxybutyric acid" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01367", "question": "What is associated with Abnormal tricuspid valve leaflet morphology?", "seeds": [ "Abnormal tricuspid valve leaflet morphology" ], "gold_answer": "Abnormal tricuspid valve morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01368", "question": "What is associated with Abnormal lower lip morphology?", "seeds": [ "Abnormal lower lip morphology" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01369", "question": "What is associated with Multiple mitochondrial dysfunctions syndrome type 2?", "seeds": [ "Multiple mitochondrial dysfunctions syndrome type 2" ], "gold_answer": "BOLA3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_01370", "question": "What is associated with Fair hair?", "seeds": [ "Fair hair" ], "gold_answer": "Hypopigmentation of hair", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01371", "question": "What is associated with Diffuse pulmonary lymphoid hyperplasia?", "seeds": [ "Diffuse pulmonary lymphoid hyperplasia" ], "gold_answer": "Abnormal pulmonary interstitial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01372", "question": "What phenotype is associated with Hypogonadotropic hypogonadism 26 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 26 with or without anosmia" ], "gold_answer": "Cryptorchidism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01373", "question": "What is associated with Epidermoid cyst?", "seeds": [ "Epidermoid cyst" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01374", "question": "What phenotype is associated with Deafness, autosomal recessive 102?", "seeds": [ "Deafness, autosomal recessive 102" ], "gold_answer": "Profound hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01375", "question": "What is associated with Hypsarrhythmia?", "seeds": [ "Hypsarrhythmia" ], "gold_answer": "EEG with generalized epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01376", "question": "What phenotype is associated with Spastic paraplegia-optic atrophy-neuropathy syndrome?", "seeds": [ "Spastic paraplegia-optic atrophy-neuropathy syndrome" ], "gold_answer": "Dysarthria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01377", "question": "What is associated with Abnormal erythrocyte adenosine deaminase activity?", "seeds": [ "Abnormal erythrocyte adenosine deaminase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01378", "question": "What is associated with Diffuse cutaneous mastocytosis?", "seeds": [ "Diffuse cutaneous mastocytosis" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01379", "question": "What is associated with Neurodevelopmental disorder plus optic atrophy?", "seeds": [ "Neurodevelopmental disorder plus optic atrophy" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01380", "question": "What is associated with Nephrolithiasis, type I?", "seeds": [ "Nephrolithiasis, type I" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01381", "question": "What is associated with Focal aware cognitive seizure with left-right confusion?", "seeds": [ "Focal aware cognitive seizure with left-right confusion" ], "gold_answer": "Focal aware seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01382", "question": "What is associated with Recurrent subcortical infarcts?", "seeds": [ "Recurrent subcortical infarcts" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01383", "question": "What is associated with Tongue pain?", "seeds": [ "Tongue pain" ], "gold_answer": "Abnormality of the tongue", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01384", "question": "What is associated with Partial duplication of the proximal phalanx of the 3rd finger?", "seeds": [ "Partial duplication of the proximal phalanx of the 3rd finger" ], "gold_answer": "Polydactyly affecting the 3rd finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01385", "question": "What is associated with Immunodeficiency 54?", "seeds": [ "Immunodeficiency 54" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01386", "question": "What is associated with Neutropenia-monocytopenia-deafness syndrome?", "seeds": [ "Neutropenia-monocytopenia-deafness syndrome" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01387", "question": "What is associated with Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2?", "seeds": [ "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" ], "gold_answer": "Abnormal dental enamel morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01388", "question": "What is associated with Normochromic anemia?", "seeds": [ "Normochromic anemia" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01389", "question": "What is associated with Red urine?", "seeds": [ "Red urine" ], "gold_answer": "Abnormal urinary color", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01390", "question": "What is associated with S-shaped palpebral fissures?", "seeds": [ "S-shaped palpebral fissures" ], "gold_answer": "Abnormality of the palpebral fissures", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01391", "question": "What phenotype is associated with Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum?", "seeds": [ "Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum" ], "gold_answer": "Intrauterine growth retardation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01392", "question": "What phenotype is associated with Neurodegeneration with brain iron accumulation 4?", "seeds": [ "Neurodegeneration with brain iron accumulation 4" ], "gold_answer": "Elevated circulating creatine kinase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01393", "question": "What is associated with Elevated urinary delta-aminolevulinic acid?", "seeds": [ "Elevated urinary delta-aminolevulinic acid" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01394", "question": "What is associated with Plant product allergy?", "seeds": [ "Plant product allergy" ], "gold_answer": "Immunologic hypersensitivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01395", "question": "What is associated with Gaucher cells?", "seeds": [ "Gaucher cells" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01396", "question": "What is associated with Abnormality of abdominal situs?", "seeds": [ "Abnormality of abdominal situs" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01397", "question": "What is associated with Vaginal neoplasm?", "seeds": [ "Vaginal neoplasm" ], "gold_answer": "Abnormal morphology of female internal genitalia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01398", "question": "What is associated with Enlarged epiphysis of the distal phalanx of the 3rd toe?", "seeds": [ "Enlarged epiphysis of the distal phalanx of the 3rd toe" ], "gold_answer": "Enlarged epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01399", "question": "What phenotype is associated with Progressive familial intrahepatic cholestasis?", "seeds": [ "Progressive familial intrahepatic cholestasis" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01400", "question": "What is associated with Ascending tubular aorta aneurysm?", "seeds": [ "Ascending tubular aorta aneurysm" ], "gold_answer": "Aortic aneurysm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01401", "question": "What is associated with Cataract, anterior polar, 2?", "seeds": [ "Cataract, anterior polar, 2" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01402", "question": "What is associated with Tibial bowing?", "seeds": [ "Tibial bowing" ], "gold_answer": "Bowing of the long bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01403", "question": "What phenotype is associated with Bilateral parasagittal parieto-occipital polymicrogyria?", "seeds": [ "Bilateral parasagittal parieto-occipital polymicrogyria" ], "gold_answer": "Auditory hallucinations", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01404", "question": "What is associated with Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities?", "seeds": [ "Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities" ], "gold_answer": "Abnormality of mouth size", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01405", "question": "What is associated with Elevated circulating creatine concentration?", "seeds": [ "Elevated circulating creatine concentration" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01406", "question": "What is associated with Distally placed thumb?", "seeds": [ "Distally placed thumb" ], "gold_answer": "Deviation of the hand or of fingers of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01407", "question": "What is associated with Antineutrophil antibody positivity?", "seeds": [ "Antineutrophil antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01408", "question": "What is associated with Bullous pemphigoid?", "seeds": [ "Bullous pemphigoid" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01409", "question": "What is associated with Volvulus of midgut?", "seeds": [ "Volvulus of midgut" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01410", "question": "What is associated with Diffusely thickened glomerular basement membrane?", "seeds": [ "Diffusely thickened glomerular basement membrane" ], "gold_answer": "Abnormal glomerular basement membrane morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01411", "question": "What is associated with Abnormal total eosinophil count?", "seeds": [ "Abnormal total eosinophil count" ], "gold_answer": "Abnormal granulocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01412", "question": "What is associated with Abnormal coccyx morphology?", "seeds": [ "Abnormal coccyx morphology" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01413", "question": "What is associated with Thiamine-Responsive megaloblastic anemia syndrome?", "seeds": [ "Thiamine-Responsive megaloblastic anemia syndrome" ], "gold_answer": "MMP21", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_dev_01414", "question": "What is associated with Infantile neuroaxonal dystrophy?", "seeds": [ "Infantile neuroaxonal dystrophy" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01415", "question": "What is associated with Early-onset generalized limb-onset dystonia?", "seeds": [ "Early-onset generalized limb-onset dystonia" ], "gold_answer": "TOR1A", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_01416", "question": "What is associated with Abnormal pelvic girdle bone morphology?", "seeds": [ "Abnormal pelvic girdle bone morphology" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01417", "question": "What is associated with Intellectual developmental disorder, X-linked 45?", "seeds": [ "Intellectual developmental disorder, X-linked 45" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01418", "question": "What is associated with Paroxysmal involuntary eye movements?", "seeds": [ "Paroxysmal involuntary eye movements" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01419", "question": "What is associated with Spastic paraplegia 92, autosomal recessive?", "seeds": [ "Spastic paraplegia 92, autosomal recessive" ], "gold_answer": "Hypoesthesia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01420", "question": "What is associated with Spastic paraplegia 29, autosomal dominant?", "seeds": [ "Spastic paraplegia 29, autosomal dominant" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01421", "question": "What is associated with Extrapulmonary tuberculosis?", "seeds": [ "Extrapulmonary tuberculosis" ], "gold_answer": "Opportunistic infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01422", "question": "What is associated with Cutis laxa-Marfanoid syndrome?", "seeds": [ "Cutis laxa-Marfanoid syndrome" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01423", "question": "What is associated with Increased CSF homocarnosine concentration?", "seeds": [ "Increased CSF homocarnosine concentration" ], "gold_answer": "Abnormal CSF carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01424", "question": "What is associated with Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies?", "seeds": [ "Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies" ], "gold_answer": "Aplasia/Hypoplasia involving bones of the skull", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01425", "question": "What is associated with Myoclonus, cerebellar ataxia, and deafness?", "seeds": [ "Myoclonus, cerebellar ataxia, and deafness" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01426", "question": "What is associated with Adrenal insufficiency?", "seeds": [ "Adrenal insufficiency" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01427", "question": "What is associated with Choroidal hemangioma?", "seeds": [ "Choroidal hemangioma" ], "gold_answer": "Vascular neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01428", "question": "What phenotype is associated with Loeys-Dietz syndrome 1?", "seeds": [ "Loeys-Dietz syndrome 1" ], "gold_answer": "Cervical spine instability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01429", "question": "What is associated with Limb myoclonus?", "seeds": [ "Limb myoclonus" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01430", "question": "What is associated with Nasal secretion eosinophilia?", "seeds": [ "Nasal secretion eosinophilia" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01431", "question": "What is associated with Arteriosclerosis of small cerebral arteries?", "seeds": [ "Arteriosclerosis of small cerebral arteries" ], "gold_answer": "Abnormal cerebral vascular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01432", "question": "What phenotype is associated with Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism?", "seeds": [ "Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism" ], "gold_answer": "Global developmental delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01433", "question": "What is associated with Spasticity of facial muscles?", "seeds": [ "Spasticity of facial muscles" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01434", "question": "What is associated with Prolonged reptilase time?", "seeds": [ "Prolonged reptilase time" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01435", "question": "What is associated with Increased total B cell count?", "seeds": [ "Increased total B cell count" ], "gold_answer": "Abnormal lymphocyte count", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01436", "question": "What is associated with Perisylvian polymicrogyria?", "seeds": [ "Perisylvian polymicrogyria" ], "gold_answer": "Abnormality of neuronal migration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01437", "question": "What is associated with Peripheral neuropathy?", "seeds": [ "Peripheral neuropathy" ], "gold_answer": "Abnormality of the peripheral nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01438", "question": "What is associated with Hamartomatous stomach polyps?", "seeds": [ "Hamartomatous stomach polyps" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01439", "question": "What phenotype is associated with Ehlers-Danlos syndrome, classic-like, 3?", "seeds": [ "Ehlers-Danlos syndrome, classic-like, 3" ], "gold_answer": "Tendon rupture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01440", "question": "What is associated with Subcutaneous spheroids?", "seeds": [ "Subcutaneous spheroids" ], "gold_answer": "Subcutaneous nodule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01441", "question": "What is associated with Irregular phalanges?", "seeds": [ "Irregular phalanges" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01442", "question": "What is associated with Keratoconus 5?", "seeds": [ "Keratoconus 5" ], "gold_answer": "Abnormality of the curvature of the cornea", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01443", "question": "What is associated with Abnormal spaced incisors?", "seeds": [ "Abnormal spaced incisors" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01444", "question": "What is associated with Thoracolumbar kyphoscoliosis?", "seeds": [ "Thoracolumbar kyphoscoliosis" ], "gold_answer": "Kyphoscoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01445", "question": "What is associated with Goiter, multinodular 2?", "seeds": [ "Goiter, multinodular 2" ], "gold_answer": "Goiter", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01446", "question": "What is associated with Curved phalanges of the 5th finger?", "seeds": [ "Curved phalanges of the 5th finger" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01447", "question": "What is associated with Detrusor sphincter dyssynergia?", "seeds": [ "Detrusor sphincter dyssynergia" ], "gold_answer": "Functional abnormality of the bladder", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01448", "question": "What is associated with Emphysema, congenital lobar?", "seeds": [ "Emphysema, congenital lobar" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01449", "question": "What is associated with Orthostatic hypotension?", "seeds": [ "Orthostatic hypotension" ], "gold_answer": "Hypotension", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01450", "question": "What is associated with Fetal fluorouracil exposure?", "seeds": [ "Fetal fluorouracil exposure" ], "gold_answer": "Fetal exposure history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01451", "question": "What is associated with Inactivating thyroid-stimulating hormone receptor defect?", "seeds": [ "Inactivating thyroid-stimulating hormone receptor defect" ], "gold_answer": "Impaired sensitivity to thyroid stimulating hormone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01452", "question": "What is associated with Erythematous macule?", "seeds": [ "Erythematous macule" ], "gold_answer": "Macule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01453", "question": "What phenotype is associated with Charcot-Marie-Tooth disease, axonal, type 2P?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2P" ], "gold_answer": "Tip-toe gait", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01454", "question": "What is associated with Retinitis pigmentosa 80?", "seeds": [ "Retinitis pigmentosa 80" ], "gold_answer": "Retinal atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01455", "question": "What is associated with Anti-phenylalanyl tRNA synthetase antibody positivity?", "seeds": [ "Anti-phenylalanyl tRNA synthetase antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01456", "question": "What is associated with Glomerular deposits?", "seeds": [ "Glomerular deposits" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01457", "question": "What phenotype is associated with Pulmonary hypoplasia, primary?", "seeds": [ "Pulmonary hypoplasia, primary" ], "gold_answer": "Pulmonary hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01458", "question": "What is associated with Abnormal cerebral artery morphology?", "seeds": [ "Abnormal cerebral artery morphology" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01459", "question": "What phenotype is associated with Muscular dystrophy, Cardiac type?", "seeds": [ "Muscular dystrophy, Cardiac type" ], "gold_answer": "Cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01460", "question": "What is associated with Retinal peau d'orange?", "seeds": [ "Retinal peau d'orange" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01461", "question": "What is associated with Bronchial papilloma?", "seeds": [ "Bronchial papilloma" ], "gold_answer": "Bronchial neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01462", "question": "What is associated with Axillary nerve distribution?", "seeds": [ "Axillary nerve distribution" ], "gold_answer": "Localized", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01463", "question": "What is associated with Glaucoma-sleep apnea syndrome?", "seeds": [ "Glaucoma-sleep apnea syndrome" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01464", "question": "What is associated with Monoclonal light chain cardiac amyloidosis?", "seeds": [ "Monoclonal light chain cardiac amyloidosis" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01465", "question": "What is associated with Increased HbA2 hemoglobin?", "seeds": [ "Increased HbA2 hemoglobin" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01466", "question": "What phenotype is associated with SARCOSINEMIA?", "seeds": [ "SARCOSINEMIA" ], "gold_answer": "Hypersarcosinemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01467", "question": "What is associated with Hypophosphatemic rickets?", "seeds": [ "Hypophosphatemic rickets" ], "gold_answer": "Hypophosphatemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01468", "question": "What is associated with Sucrase-isomaltase deficiency, congenital?", "seeds": [ "Sucrase-isomaltase deficiency, congenital" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01469", "question": "What is associated with Elevated 18-hydroxycorticosterone to aldosterone ratio?", "seeds": [ "Elevated 18-hydroxycorticosterone to aldosterone ratio" ], "gold_answer": "Abnormal circulating corticosterone level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01470", "question": "What is associated with Finger joint contracture?", "seeds": [ "Finger joint contracture" ], "gold_answer": "Upper-limb joint contracture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01471", "question": "What is associated with Reduced in vitro contracture test threshold?", "seeds": [ "Reduced in vitro contracture test threshold" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01472", "question": "What phenotype is associated with Alopecia-contractures-dwarfism-intellectual disability syndrome?", "seeds": [ "Alopecia-contractures-dwarfism-intellectual disability syndrome" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01473", "question": "What is associated with Exchondrosis of pinna, posterior?", "seeds": [ "Exchondrosis of pinna, posterior" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01474", "question": "What phenotype is associated with Cysteine peptiduria?", "seeds": [ "Cysteine peptiduria" ], "gold_answer": "Abnormal circulating glycine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01475", "question": "What is associated with Thickened mitral valve cusp?", "seeds": [ "Thickened mitral valve cusp" ], "gold_answer": "Abnormal mitral valve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01476", "question": "What is associated with Peripheral fixation?", "seeds": [ "Peripheral fixation" ], "gold_answer": "Eccentric visual fixation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01477", "question": "What is associated with Williams-Beuren region duplication syndrome?", "seeds": [ "Williams-Beuren region duplication syndrome" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01478", "question": "What phenotype is associated with Urofacial syndrome 2?", "seeds": [ "Urofacial syndrome 2" ], "gold_answer": "Bladder trabeculation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01479", "question": "What is associated with Absent lower eyelashes?", "seeds": [ "Absent lower eyelashes" ], "gold_answer": "Absent eyelashes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01480", "question": "What is associated with Synovial granuloma?", "seeds": [ "Synovial granuloma" ], "gold_answer": "Abnormal synovial membrane morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01481", "question": "What is associated with Decreased intracranial pressure?", "seeds": [ "Decreased intracranial pressure" ], "gold_answer": "Abnormality of intracranial pressure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01482", "question": "What phenotype is associated with Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies?", "seeds": [ "Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies" ], "gold_answer": "Midface retrusion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01483", "question": "What is associated with Elevated circulating DOPA concentration?", "seeds": [ "Elevated circulating DOPA concentration" ], "gold_answer": "Abnormal circulating carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01484", "question": "What is associated with Agenesis of canine?", "seeds": [ "Agenesis of canine" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01485", "question": "What is associated with Reduced maximal expiratory pressure?", "seeds": [ "Reduced maximal expiratory pressure" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01486", "question": "What phenotype is associated with Multiple epiphyseal dysplasia, Lowry type?", "seeds": [ "Multiple epiphyseal dysplasia, Lowry type" ], "gold_answer": "Hypertelorism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01487", "question": "What is associated with Autosomal non-syndromic agammaglobulinemia?", "seeds": [ "Autosomal non-syndromic agammaglobulinemia" ], "gold_answer": "Abnormality of the upper respiratory tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01488", "question": "What is associated with Cystic hygroma?", "seeds": [ "Cystic hygroma" ], "gold_answer": "Abnormality of head or neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01489", "question": "What is associated with X-linked spastic paraplegia type 34?", "seeds": [ "X-linked spastic paraplegia type 34" ], "gold_answer": "Abnormal pyramidal sign", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01490", "question": "What is associated with Systemic lupus erythematosus 18?", "seeds": [ "Systemic lupus erythematosus 18" ], "gold_answer": "Abnormal platelet morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01491", "question": "What is associated with Retropharyngeal hemangioma?", "seeds": [ "Retropharyngeal hemangioma" ], "gold_answer": "Hemangioma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01492", "question": "What is associated with Abnormal dentin morphology?", "seeds": [ "Abnormal dentin morphology" ], "gold_answer": "Abnormality of dental structure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01493", "question": "What is associated with Anterior mediastinal mass?", "seeds": [ "Anterior mediastinal mass" ], "gold_answer": "Mass on thoracic imaging", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01494", "question": "What is associated with Exocrine pancreatic insufficiency?", "seeds": [ "Exocrine pancreatic insufficiency" ], "gold_answer": "Abnormality of the pancreas", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01495", "question": "What is associated with Impaired fasting glucose?", "seeds": [ "Impaired fasting glucose" ], "gold_answer": "Abnormal glucose homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01496", "question": "What is associated with Deafness, autosomal recessive 115?", "seeds": [ "Deafness, autosomal recessive 115" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01497", "question": "What is associated with GM2-ganglioside accumulation?", "seeds": [ "GM2-ganglioside accumulation" ], "gold_answer": "Abnormal glycosphingolipid metabolism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01498", "question": "What phenotype is associated with Dystrophia myotonica 2?", "seeds": [ "Dystrophia myotonica 2" ], "gold_answer": "Proximal muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01499", "question": "What is associated with Impaired fasting glucose?", "seeds": [ "Impaired fasting glucose" ], "gold_answer": "Abnormal blood glucose concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01500", "question": "What is associated with Elevated circulating alpha-ketoglutarate concentration?", "seeds": [ "Elevated circulating alpha-ketoglutarate concentration" ], "gold_answer": "Abnormal circulating carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01501", "question": "What is associated with Abnormality of superoxide metabolism?", "seeds": [ "Abnormality of superoxide metabolism" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01502", "question": "What is associated with Bifid ribs?", "seeds": [ "Bifid ribs" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01503", "question": "What is associated with Perinuclear antineutrophil antibody positivity?", "seeds": [ "Perinuclear antineutrophil antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01504", "question": "What is associated with Systolic anterior motion of the mitral valve?", "seeds": [ "Systolic anterior motion of the mitral valve" ], "gold_answer": "Abnormal mitral valve physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01505", "question": "What is associated with Pechet factor deficiency?", "seeds": [ "Pechet factor deficiency" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01506", "question": "What phenotype is associated with Cholestasis-lymphedema syndrome?", "seeds": [ "Cholestasis-lymphedema syndrome" ], "gold_answer": "Fatigue", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01507", "question": "What is associated with Eversion of lateral third of lower eyelids?", "seeds": [ "Eversion of lateral third of lower eyelids" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01508", "question": "What is associated with Positive bloodstream Cysticercosis antigen test?", "seeds": [ "Positive bloodstream Cysticercosis antigen test" ], "gold_answer": "Positive blood infectious agent test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01509", "question": "What is associated with Absent stratum granulosum of epidermis?", "seeds": [ "Absent stratum granulosum of epidermis" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01510", "question": "What is associated with Tongue nodules?", "seeds": [ "Tongue nodules" ], "gold_answer": "Abnormal tongue morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01511", "question": "What is associated with Chromosome 1q41-q42 deletion syndrome?", "seeds": [ "Chromosome 1q41-q42 deletion syndrome" ], "gold_answer": "Cerebellar cyst", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01512", "question": "What is associated with Focal impaired awareness emotional seizure with agitation?", "seeds": [ "Focal impaired awareness emotional seizure with agitation" ], "gold_answer": "Focal emotional seizure with agitation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01513", "question": "What is associated with Reduced fibroblast CD55 level?", "seeds": [ "Reduced fibroblast CD55 level" ], "gold_answer": "Reduced fibroblast surface marker level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01514", "question": "What is associated with Osteogenesis imperfecta?", "seeds": [ "Osteogenesis imperfecta" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01515", "question": "What phenotype is associated with Dystonia 30?", "seeds": [ "Dystonia 30" ], "gold_answer": "Torticollis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01516", "question": "What is associated with Stomatitis?", "seeds": [ "Stomatitis" ], "gold_answer": "Abnormal oral mucosa morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01517", "question": "What is associated with Hallux varus?", "seeds": [ "Hallux varus" ], "gold_answer": "Deviation of toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01518", "question": "What is associated with Endocrine-type tubular atrophy?", "seeds": [ "Endocrine-type tubular atrophy" ], "gold_answer": "Renal tubular atrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01519", "question": "What is associated with Autosomal recessive distal nebulin myopathy?", "seeds": [ "Autosomal recessive distal nebulin myopathy" ], "gold_answer": "Skeletal muscle atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01520", "question": "What is associated with 3q13 microdeletion syndrome?", "seeds": [ "3q13 microdeletion syndrome" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01521", "question": "What is associated with Alopecia of scalp?", "seeds": [ "Alopecia of scalp" ], "gold_answer": "Abnormality of the scalp hair", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01522", "question": "What is associated with Absent leukocyte alkaline phosphatase?", "seeds": [ "Absent leukocyte alkaline phosphatase" ], "gold_answer": "Reduced leukocyte alkaline phosphatase", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01523", "question": "What is associated with Abnormality of the genital system?", "seeds": [ "Abnormality of the genital system" ], "gold_answer": "Abnormality of the genitourinary system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01524", "question": "What is associated with 4H leukodystrophy?", "seeds": [ "4H leukodystrophy" ], "gold_answer": "Growth abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01525", "question": "What is associated with Myofibrillar myopathy 11?", "seeds": [ "Myofibrillar myopathy 11" ], "gold_answer": "Abnormality of body weight", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01526", "question": "What is associated with Ivory epiphyses of the middle phalanges of the hand?", "seeds": [ "Ivory epiphyses of the middle phalanges of the hand" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01527", "question": "What phenotype is associated with Anauxetic dysplasia 3?", "seeds": [ "Anauxetic dysplasia 3" ], "gold_answer": "Small nail", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01528", "question": "What is associated with Malignant eosinophil proliferation?", "seeds": [ "Malignant eosinophil proliferation" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01529", "question": "What phenotype is associated with Indifference to pain, congenital, autosomal recessive?", "seeds": [ "Indifference to pain, congenital, autosomal recessive" ], "gold_answer": "Painless fractures due to injury", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01530", "question": "What is associated with Hyperextensibility at elbow?", "seeds": [ "Hyperextensibility at elbow" ], "gold_answer": "Small joint hypermobilty", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01531", "question": "What is associated with Increased urinary non-proteinogenic amino acid level?", "seeds": [ "Increased urinary non-proteinogenic amino acid level" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01532", "question": "What phenotype is associated with Epilepsy, idiopathic generalized, susceptibility to, 15?", "seeds": [ "Epilepsy, idiopathic generalized, susceptibility to, 15" ], "gold_answer": "Bilateral tonic-clonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01533", "question": "What is associated with Partial anomalous pulmonary venous return?", "seeds": [ "Partial anomalous pulmonary venous return" ], "gold_answer": "Abnormal pulmonary vein morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01534", "question": "What is associated with Focal aware seizure?", "seeds": [ "Focal aware seizure" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01535", "question": "What is associated with Reactive arthritis?", "seeds": [ "Reactive arthritis" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01536", "question": "What is associated with Prolonged partial thromboplastin time?", "seeds": [ "Prolonged partial thromboplastin time" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01537", "question": "What is associated with Cubitus valgus?", "seeds": [ "Cubitus valgus" ], "gold_answer": "Abnormality of the elbow", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01538", "question": "What is associated with Pfeiffer-Palm-Teller syndrome?", "seeds": [ "Pfeiffer-Palm-Teller syndrome" ], "gold_answer": "Limitation of joint mobility", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01539", "question": "What is associated with Distal?", "seeds": [ "Distal" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01540", "question": "What is associated with Small radial epiphyses?", "seeds": [ "Small radial epiphyses" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01541", "question": "What phenotype is associated with Myoclonic epilepsy, juvenile, 2?", "seeds": [ "Myoclonic epilepsy, juvenile, 2" ], "gold_answer": "Bilateral tonic-clonic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01542", "question": "What is associated with Hyperleucinemia?", "seeds": [ "Hyperleucinemia" ], "gold_answer": "Abnormal circulating branched chain amino acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01543", "question": "What is associated with Atrophic vaginal mucosa?", "seeds": [ "Atrophic vaginal mucosa" ], "gold_answer": "Abnormal vagina morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01544", "question": "What is associated with Abnormality of upper lip vermillion?", "seeds": [ "Abnormality of upper lip vermillion" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01545", "question": "What is associated with Panencephalitis, subacute sclerosing?", "seeds": [ "Panencephalitis, subacute sclerosing" ], "gold_answer": "Unusual CNS infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01546", "question": "What is associated with Glomerular subendothelial electron-dense deposits?", "seeds": [ "Glomerular subendothelial electron-dense deposits" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01547", "question": "What is associated with Acute megakaryoblastic leukemia in children with Down syndrome?", "seeds": [ "Acute megakaryoblastic leukemia in children with Down syndrome" ], "gold_answer": "GATA1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_dev_01548", "question": "What is associated with Neutropenia, severe congenital, 9, autosomal dominant?", "seeds": [ "Neutropenia, severe congenital, 9, autosomal dominant" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01549", "question": "What phenotype is associated with Autosomal dominant polycystic kidney disease?", "seeds": [ "Autosomal dominant polycystic kidney disease" ], "gold_answer": "Pituitary growth hormone cell adenoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01550", "question": "What is associated with Pallor?", "seeds": [ "Pallor" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01551", "question": "What is associated with Cataract-ataxia-deafness syndrome?", "seeds": [ "Cataract-ataxia-deafness syndrome" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01552", "question": "What is associated with Erosion of oral mucosa?", "seeds": [ "Erosion of oral mucosa" ], "gold_answer": "Abnormal oral mucosa morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01553", "question": "What is associated with Rectoperineal fistula?", "seeds": [ "Rectoperineal fistula" ], "gold_answer": "Abnormal rectum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01554", "question": "What is associated with Chronic sensorineural polyneuropathy?", "seeds": [ "Chronic sensorineural polyneuropathy" ], "gold_answer": "Abnormal peripheral nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01555", "question": "What is associated with Exostoses-anetodermia-brachydactyly type E syndrome?", "seeds": [ "Exostoses-anetodermia-brachydactyly type E syndrome" ], "gold_answer": "Short digit", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01556", "question": "What phenotype is associated with Uncombable hair syndrome 3?", "seeds": [ "Uncombable hair syndrome 3" ], "gold_answer": "Curly hair", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01557", "question": "What is associated with Edema?", "seeds": [ "Edema" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01558", "question": "What is associated with Sporadic fetal brain disruption sequence?", "seeds": [ "Sporadic fetal brain disruption sequence" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01559", "question": "What is associated with Placental site trophoblastic tumor?", "seeds": [ "Placental site trophoblastic tumor" ], "gold_answer": "Abnormality of the menstrual cycle", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01560", "question": "What is associated with Partial duplication of the distal phalanx of the 3rd toe?", "seeds": [ "Partial duplication of the distal phalanx of the 3rd toe" ], "gold_answer": "Duplication of the distal phalanx of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01561", "question": "What phenotype is associated with Trichothiodystrophy 2, photosensitive?", "seeds": [ "Trichothiodystrophy 2, photosensitive" ], "gold_answer": "Agenesis of maxillary lateral incisor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01562", "question": "What is associated with Opitz-Kaveggia syndrome?", "seeds": [ "Opitz-Kaveggia syndrome" ], "gold_answer": "Abnormal pitch", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01563", "question": "What phenotype is associated with Pain sensitivity QTL1?", "seeds": [ "Pain sensitivity QTL1" ], "gold_answer": "Pain insensitivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01564", "question": "What is associated with Nail pterygium?", "seeds": [ "Nail pterygium" ], "gold_answer": "Abnormal nail attachment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01565", "question": "What phenotype is associated with Bleeding disorder, platelet-type, 22?", "seeds": [ "Bleeding disorder, platelet-type, 22" ], "gold_answer": "Impaired collagen-induced platelet aggregation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01566", "question": "What is associated with Hypoplastic anterior commissure?", "seeds": [ "Hypoplastic anterior commissure" ], "gold_answer": "Abnormal cerebral subcortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01567", "question": "What is associated with Decreased proportion of CD8+ TEMRA T cells?", "seeds": [ "Decreased proportion of CD8+ TEMRA T cells" ], "gold_answer": "Abnormal proportion of CD8-positive TEMRA T cells", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01568", "question": "What is associated with Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature?", "seeds": [ "Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01569", "question": "What is associated with Renal cell carcinoma?", "seeds": [ "Renal cell carcinoma" ], "gold_answer": "Renal neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01570", "question": "What is associated with Inclusion body myositis?", "seeds": [ "Inclusion body myositis" ], "gold_answer": "Abnormal esophagus physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01571", "question": "What is associated with Choroidal vascular hyperpermeability?", "seeds": [ "Choroidal vascular hyperpermeability" ], "gold_answer": "Abnormal morphology of the choroidal vasculature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01572", "question": "What is associated with Deafness, autosomal dominant 34, with or without inflammation?", "seeds": [ "Deafness, autosomal dominant 34, with or without inflammation" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01573", "question": "What is associated with Muscle fiber granulofilamentous inclusion bodies?", "seeds": [ "Muscle fiber granulofilamentous inclusion bodies" ], "gold_answer": "Muscle fiber inclusion bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01574", "question": "What is associated with WHIM syndrome?", "seeds": [ "WHIM syndrome" ], "gold_answer": "Abnormality of globe location", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01575", "question": "What is associated with Psoriasis 15, pustular, susceptibility to?", "seeds": [ "Psoriasis 15, pustular, susceptibility to" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01576", "question": "What is associated with Epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia?", "seeds": [ "Epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia" ], "gold_answer": "Lower-limb metaphyseal irregularity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01577", "question": "What is associated with Vestibular sensory seeking?", "seeds": [ "Vestibular sensory seeking" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01578", "question": "What phenotype is associated with Terminal osseous dysplasia-pigmentary defects syndrome?", "seeds": [ "Terminal osseous dysplasia-pigmentary defects syndrome" ], "gold_answer": "Hypertelorism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01579", "question": "What is associated with Increased salivary cortisol level?", "seeds": [ "Increased salivary cortisol level" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01580", "question": "What is associated with Abnormal double-negative T cell proportion?", "seeds": [ "Abnormal double-negative T cell proportion" ], "gold_answer": "Abnormal T cell morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01581", "question": "What is associated with Abnormality of the epiphyses of the distal phalanx of finger?", "seeds": [ "Abnormality of the epiphyses of the distal phalanx of finger" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01582", "question": "What is associated with Reduced tissue alpha-N-acetylglucosaminidase activity?", "seeds": [ "Reduced tissue alpha-N-acetylglucosaminidase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01583", "question": "What is associated with Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts?", "seeds": [ "Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts" ], "gold_answer": "Abnormal enzyme activity in cultured fibroblasts", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01584", "question": "What is associated with Brain malformation renal syndrome?", "seeds": [ "Brain malformation renal syndrome" ], "gold_answer": "Cleft upper lip", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01585", "question": "What is associated with Palilalia?", "seeds": [ "Palilalia" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01586", "question": "What is associated with Amniotic band syndrome?", "seeds": [ "Amniotic band syndrome" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01587", "question": "What phenotype is associated with Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome?", "seeds": [ "Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome" ], "gold_answer": "Tracheomalacia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01588", "question": "What is associated with Neonatal hypoglycemia?", "seeds": [ "Neonatal hypoglycemia" ], "gold_answer": "Abnormal glucose homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01589", "question": "What is associated with Delayed tibial epiphyseal ossification?", "seeds": [ "Delayed tibial epiphyseal ossification" ], "gold_answer": "Abnormal tibia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01590", "question": "What is associated with Mitochondrial phosphate carrier deficiency?", "seeds": [ "Mitochondrial phosphate carrier deficiency" ], "gold_answer": "Abnormality of the mitochondrion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01591", "question": "What is associated with Secretory adrenocortical adenoma?", "seeds": [ "Secretory adrenocortical adenoma" ], "gold_answer": "Neoplasm of the adrenal cortex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01592", "question": "What is associated with L-2-hydroxyglutaric aciduria?", "seeds": [ "L-2-hydroxyglutaric aciduria" ], "gold_answer": "Unusual CNS infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01593", "question": "What is associated with Sleep apnea?", "seeds": [ "Sleep apnea" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01594", "question": "What is associated with Increased CD4+ effector memory T cell proportion?", "seeds": [ "Increased CD4+ effector memory T cell proportion" ], "gold_answer": "Abnormal CD4+ memory T cell proportion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01595", "question": "What is associated with Increased circulating IgG4 level?", "seeds": [ "Increased circulating IgG4 level" ], "gold_answer": "Increased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01596", "question": "What is associated with Numerous congenital melanocytic nevi?", "seeds": [ "Numerous congenital melanocytic nevi" ], "gold_answer": "Melanocytic nevus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01597", "question": "What phenotype is associated with Primary progressive freezing gait?", "seeds": [ "Primary progressive freezing gait" ], "gold_answer": "Lewy bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01598", "question": "What is associated with Epileptic encephalopathy, early infantile, 7?", "seeds": [ "Epileptic encephalopathy, early infantile, 7" ], "gold_answer": "Appendicular spasticity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01599", "question": "What is associated with Abnormal lymphocyte morphology?", "seeds": [ "Abnormal lymphocyte morphology" ], "gold_answer": "Abnormal immune system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01600", "question": "What is associated with Periostosis?", "seeds": [ "Periostosis" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01601", "question": "What is associated with Acute colitis?", "seeds": [ "Acute colitis" ], "gold_answer": "Inflammation of the large intestine", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01602", "question": "What is associated with Anti-transglutaminase 6 antibody?", "seeds": [ "Anti-transglutaminase 6 antibody" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01603", "question": "What is associated with Leukodystrophy, hypomyelinating, 22?", "seeds": [ "Leukodystrophy, hypomyelinating, 22" ], "gold_answer": "Abnormal conjugate eye movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01604", "question": "What is associated with Deafness, autosomal dominant nonsyndromic sensorineural 4?", "seeds": [ "Deafness, autosomal dominant nonsyndromic sensorineural 4" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01605", "question": "What is associated with Lack of bowel sounds?", "seeds": [ "Lack of bowel sounds" ], "gold_answer": "Abdominal symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01606", "question": "What is associated with Combined oxidative phosphorylation deficiency 12?", "seeds": [ "Combined oxidative phosphorylation deficiency 12" ], "gold_answer": "Abnormal cerebral white matter morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01607", "question": "What is associated with Fraser-Like syndrome?", "seeds": [ "Fraser-Like syndrome" ], "gold_answer": "Abnormal 2nd finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01608", "question": "What is associated with Broad toe?", "seeds": [ "Broad toe" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01609", "question": "What phenotype is associated with Palmoplantar carcinoma, multiple self-healing?", "seeds": [ "Palmoplantar carcinoma, multiple self-healing" ], "gold_answer": "Keratitis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01610", "question": "What is associated with Chronic lymphocytic meningitis?", "seeds": [ "Chronic lymphocytic meningitis" ], "gold_answer": "Meningitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01611", "question": "What is associated with RHINY?", "seeds": [ "RHINY" ], "gold_answer": "Abdominal wall defect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01612", "question": "What is associated with Focal cognitive seizure with left-right confusion?", "seeds": [ "Focal cognitive seizure with left-right confusion" ], "gold_answer": "Focal-onset seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01613", "question": "What is associated with Retinal shunt vessels?", "seeds": [ "Retinal shunt vessels" ], "gold_answer": "Abnormal fundus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01614", "question": "What is associated with Long toe?", "seeds": [ "Long toe" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01615", "question": "What is associated with Pseudohermaphroditism, female, with skeletal anomalies?", "seeds": [ "Pseudohermaphroditism, female, with skeletal anomalies" ], "gold_answer": "Abnormal external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01616", "question": "What is associated with Typified by high penetrance?", "seeds": [ "Typified by high penetrance" ], "gold_answer": "Inheritance qualifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01617", "question": "What is associated with Postaxial polydactyly?", "seeds": [ "Postaxial polydactyly" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01618", "question": "What is associated with Color vision defect?", "seeds": [ "Color vision defect" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01619", "question": "What is associated with Recurrent meningococcal disease?", "seeds": [ "Recurrent meningococcal disease" ], "gold_answer": "Recurrent Neisserial infections", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01620", "question": "What is associated with Absent posterior alpha rhythm?", "seeds": [ "Absent posterior alpha rhythm" ], "gold_answer": "Interictal EEG abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01621", "question": "What is associated with Anti-H1 antibody positivity?", "seeds": [ "Anti-H1 antibody positivity" ], "gold_answer": "Anti-histone antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01622", "question": "What is associated with Short femur?", "seeds": [ "Short femur" ], "gold_answer": "Aplasia/hypoplasia involving bones of the lower limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01623", "question": "What is associated with Abnormal 2nd metacarpal morphology?", "seeds": [ "Abnormal 2nd metacarpal morphology" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01624", "question": "What is associated with Focal aware cognitive seizure with left-right confusion?", "seeds": [ "Focal aware cognitive seizure with left-right confusion" ], "gold_answer": "Focal aware cognitive seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01625", "question": "What is associated with Renal arteriole intima/media coagulative necrosis?", "seeds": [ "Renal arteriole intima/media coagulative necrosis" ], "gold_answer": "Abnormal renal arteriole intima/media morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01626", "question": "What is associated with Ehlers-Danlos syndrome, arthrochalasia type, 1?", "seeds": [ "Ehlers-Danlos syndrome, arthrochalasia type, 1" ], "gold_answer": "Scarring", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01627", "question": "What is associated with Malignant mesothelioma?", "seeds": [ "Malignant mesothelioma" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01628", "question": "What is associated with Tibial torsion?", "seeds": [ "Tibial torsion" ], "gold_answer": "Abnormal tibia morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01629", "question": "What phenotype is associated with Holoprosencephaly, semilobar, with craniosynostosis?", "seeds": [ "Holoprosencephaly, semilobar, with craniosynostosis" ], "gold_answer": "Semilobar holoprosencephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01630", "question": "What is associated with Milia, multiple eruptive?", "seeds": [ "Milia, multiple eruptive" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01631", "question": "What is associated with Panic disorder 1?", "seeds": [ "Panic disorder 1" ], "gold_answer": "Abnormal judgment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01632", "question": "What is associated with Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2?", "seeds": [ "Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01633", "question": "What phenotype is associated with Jeune syndrome?", "seeds": [ "Jeune syndrome" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01634", "question": "What is associated with Angiokeratoma corporis diffusum with arteriovenous fistulas?", "seeds": [ "Angiokeratoma corporis diffusum with arteriovenous fistulas" ], "gold_answer": "Arteriovenous malformation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01635", "question": "What is associated with Axial muscle weakness?", "seeds": [ "Axial muscle weakness" ], "gold_answer": "Abnormal muscle physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01636", "question": "What is associated with Sleep-wake cycle disturbance?", "seeds": [ "Sleep-wake cycle disturbance" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01637", "question": "What phenotype is associated with Neurodevelopmental disorder with poor language and loss of hand skills?", "seeds": [ "Neurodevelopmental disorder with poor language and loss of hand skills" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01638", "question": "What is associated with Hand-foot-uterus syndrome?", "seeds": [ "Hand-foot-uterus syndrome" ], "gold_answer": "Abnormality of the uterus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01639", "question": "What is associated with Convergence-retraction nystagmus?", "seeds": [ "Convergence-retraction nystagmus" ], "gold_answer": "Abnormal involuntary eye movements", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01640", "question": "What phenotype is associated with Platyspondylic lethal skeletal dysplasia, Torrance type?", "seeds": [ "Platyspondylic lethal skeletal dysplasia, Torrance type" ], "gold_answer": "Neonatal short-limb short stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01641", "question": "What is associated with Neuronopathy, distal hereditary motor, type VIIB?", "seeds": [ "Neuronopathy, distal hereditary motor, type VIIB" ], "gold_answer": "Paralysis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01642", "question": "What is associated with Abnormal facial skeleton morphology?", "seeds": [ "Abnormal facial skeleton morphology" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01643", "question": "What is associated with Abnormal Th17 T cell proportion?", "seeds": [ "Abnormal Th17 T cell proportion" ], "gold_answer": "Abnormal cellular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01644", "question": "What phenotype is associated with 15q overgrowth syndrome?", "seeds": [ "15q overgrowth syndrome" ], "gold_answer": "Bilateral ptosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01645", "question": "What is associated with X-linked Charcot-Marie-Tooth disease type 5?", "seeds": [ "X-linked Charcot-Marie-Tooth disease type 5" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01646", "question": "What is associated with Opacification of the corneal epithelium?", "seeds": [ "Opacification of the corneal epithelium" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01647", "question": "What is associated with Deafness, autosomal recessive 16?", "seeds": [ "Deafness, autosomal recessive 16" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01648", "question": "What is associated with Anti-GD1a antibody positivity?", "seeds": [ "Anti-GD1a antibody positivity" ], "gold_answer": "Anti-ganglioside antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01649", "question": "What is associated with Abnormality of the ovary?", "seeds": [ "Abnormality of the ovary" ], "gold_answer": "Abnormal morphology of female internal genitalia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01650", "question": "What is associated with Corneal astigmatism?", "seeds": [ "Corneal astigmatism" ], "gold_answer": "Astigmatism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01651", "question": "What is associated with Punctate corneal epithelial erosions?", "seeds": [ "Punctate corneal epithelial erosions" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01652", "question": "What is associated with Hematological neoplasm?", "seeds": [ "Hematological neoplasm" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01653", "question": "What is associated with Autosomal recessive palmoplantar keratoderma and congenital alopecia?", "seeds": [ "Autosomal recessive palmoplantar keratoderma and congenital alopecia" ], "gold_answer": "Alopecia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01654", "question": "What is associated with Dystonia 6, torsion?", "seeds": [ "Dystonia 6, torsion" ], "gold_answer": "Abnormal esophagus physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01655", "question": "What phenotype is associated with Cap myopathy?", "seeds": [ "Cap myopathy" ], "gold_answer": "Pes valgus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01656", "question": "What is associated with Hereditary motor and sensory neuropathy V?", "seeds": [ "Hereditary motor and sensory neuropathy V" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01657", "question": "What is associated with Abnormal lung morphology?", "seeds": [ "Abnormal lung morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01658", "question": "What phenotype is associated with Cholesteryl ester storage disease?", "seeds": [ "Cholesteryl ester storage disease" ], "gold_answer": "Esophageal varix", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01659", "question": "What is associated with Abnormal fetal abdominal circumference?", "seeds": [ "Abnormal fetal abdominal circumference" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01660", "question": "What is associated with Post-vaccination measles?", "seeds": [ "Post-vaccination measles" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01661", "question": "What is associated with Irregular epiphysis of the middle phalanx of the 4th finger?", "seeds": [ "Irregular epiphysis of the middle phalanx of the 4th finger" ], "gold_answer": "Abnormality of the epiphyses of the 4th finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01662", "question": "What is associated with Segmental peripheral demyelination/remyelination?", "seeds": [ "Segmental peripheral demyelination/remyelination" ], "gold_answer": "Peripheral demyelination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01663", "question": "What is associated with Impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies?", "seeds": [ "Impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies" ], "gold_answer": "Astigmatism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01664", "question": "What is associated with Osteolytic defects of the hand bones?", "seeds": [ "Osteolytic defects of the hand bones" ], "gold_answer": "Osteolysis involving bones of the upper limbs", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01665", "question": "What is associated with Hyperthyroidism, nonautoimmune?", "seeds": [ "Hyperthyroidism, nonautoimmune" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01666", "question": "What is associated with Glossitis?", "seeds": [ "Glossitis" ], "gold_answer": "Abnormal tongue morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01667", "question": "What is associated with Arcuate artery intima/media liquefactive necrosis?", "seeds": [ "Arcuate artery intima/media liquefactive necrosis" ], "gold_answer": "Abnormal arcuate artery intima/media morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01668", "question": "What phenotype is associated with Non-involuting congenital hemangioma?", "seeds": [ "Non-involuting congenital hemangioma" ], "gold_answer": "Midfrontal capillary hemangioma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01669", "question": "What is associated with Hyperpyrexia?", "seeds": [ "Hyperpyrexia" ], "gold_answer": "Abnormality of temperature regulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01670", "question": "What is associated with Hallux pain?", "seeds": [ "Hallux pain" ], "gold_answer": "Limb pain", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01671", "question": "What is associated with Abnormal lip morphology?", "seeds": [ "Abnormal lip morphology" ], "gold_answer": "Abnormal oral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01672", "question": "What is associated with Labia minora, incomplete adhesion of?", "seeds": [ "Labia minora, incomplete adhesion of" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01673", "question": "What is associated with 20q13.33 microdeletion syndrome?", "seeds": [ "20q13.33 microdeletion syndrome" ], "gold_answer": "Abnormality of the urethra", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01674", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked, syndromic, Stocco dos Santos type?", "seeds": [ "Intellectual developmental disorder, X-linked, syndromic, Stocco dos Santos type" ], "gold_answer": "Depressed nasal bridge", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01675", "question": "What is associated with Triangular shaped distal phalanx of the 5th toe?", "seeds": [ "Triangular shaped distal phalanx of the 5th toe" ], "gold_answer": "Abnormality of the phalanges of the 5th toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01676", "question": "What phenotype is associated with Infection-related hemolytic uremic syndrome?", "seeds": [ "Infection-related hemolytic uremic syndrome" ], "gold_answer": "Abnormality of brain morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01677", "question": "What is associated with Abnormal preoccupation?", "seeds": [ "Abnormal preoccupation" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01678", "question": "What is associated with Urbach-Wiethe disease?", "seeds": [ "Urbach-Wiethe disease" ], "gold_answer": "Abnormal preoccupation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01679", "question": "What phenotype is associated with Spinocerebellar ataxia, autosomal recessive 18?", "seeds": [ "Spinocerebellar ataxia, autosomal recessive 18" ], "gold_answer": "Dysmetria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01680", "question": "What phenotype is associated with Charcot-Marie-Tooth disease, dominant intermediate B?", "seeds": [ "Charcot-Marie-Tooth disease, dominant intermediate B" ], "gold_answer": "Onion bulb formation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01681", "question": "What is associated with Cervicomedullary schisis?", "seeds": [ "Cervicomedullary schisis" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01682", "question": "What is associated with Fetal cerebellar hemisphere hemorrhage?", "seeds": [ "Fetal cerebellar hemisphere hemorrhage" ], "gold_answer": "Fetal intracranial hemorrhage", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01683", "question": "What is associated with Anti-schistosoma antibody positivity?", "seeds": [ "Anti-schistosoma antibody positivity" ], "gold_answer": "Bloodstream pathogen-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01684", "question": "What is associated with Convulsive disorder, familial, with prenatal or early onset?", "seeds": [ "Convulsive disorder, familial, with prenatal or early onset" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01685", "question": "What is associated with Spastic paraplegia 83, autosomal recessive?", "seeds": [ "Spastic paraplegia 83, autosomal recessive" ], "gold_answer": "Long-tract sign", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01686", "question": "What is associated with Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth?", "seeds": [ "Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth" ], "gold_answer": "KREMEN1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_01687", "question": "What is associated with Abnormality of the humeral epiphyseal plate?", "seeds": [ "Abnormality of the humeral epiphyseal plate" ], "gold_answer": "Abnormal upper limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01688", "question": "What is associated with Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities?", "seeds": [ "Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities" ], "gold_answer": "Reduced consciousness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01689", "question": "What is associated with Anti-MIT3 antibody positivity?", "seeds": [ "Anti-MIT3 antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01690", "question": "What is associated with VPS11-related autosomal recessive hypomyelinating leukodystrophy?", "seeds": [ "VPS11-related autosomal recessive hypomyelinating leukodystrophy" ], "gold_answer": "Hepatomegaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01691", "question": "What phenotype is associated with Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1?", "seeds": [ "Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1" ], "gold_answer": "Bone marrow hypocellularity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01692", "question": "What is associated with Diastasis recti and weakness of the linea alba?", "seeds": [ "Diastasis recti and weakness of the linea alba" ], "gold_answer": "Abnormal abdominal wall morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01693", "question": "What is associated with Highly arched eyebrow?", "seeds": [ "Highly arched eyebrow" ], "gold_answer": "Abnormal eyebrow morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01694", "question": "What is associated with Ureterovesical stenosis?", "seeds": [ "Ureterovesical stenosis" ], "gold_answer": "Ureteral stenosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01695", "question": "What is associated with Delayed epiphyseal ossification?", "seeds": [ "Delayed epiphyseal ossification" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01696", "question": "What is associated with Keratolytic winter erythema?", "seeds": [ "Keratolytic winter erythema" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01697", "question": "What is associated with Inflammatory bowel disease 19?", "seeds": [ "Inflammatory bowel disease 19" ], "gold_answer": "Functional abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01698", "question": "What is associated with Breast apocrine adenoma?", "seeds": [ "Breast apocrine adenoma" ], "gold_answer": "Neoplasm of the breast", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01699", "question": "What is associated with Elevated circulating tetradecanoylcarnitine concentration?", "seeds": [ "Elevated circulating tetradecanoylcarnitine concentration" ], "gold_answer": "Elevated circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01700", "question": "What is associated with Small epiphyses of the 3rd finger?", "seeds": [ "Small epiphyses of the 3rd finger" ], "gold_answer": "Abnormality of the epiphyses of the 3rd finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01701", "question": "What is associated with Elevated urinary coproporphyrin level?", "seeds": [ "Elevated urinary coproporphyrin level" ], "gold_answer": "Abnormal urinary organic compound level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01702", "question": "What is associated with Abnormal cartilage morphology?", "seeds": [ "Abnormal cartilage morphology" ], "gold_answer": "Abnormality of the musculoskeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01703", "question": "What is associated with Dental radicular dysplasia?", "seeds": [ "Dental radicular dysplasia" ], "gold_answer": "Abnormality of premolar", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01704", "question": "What is associated with Encephalopathy, progressive, with or without lipodystrophy?", "seeds": [ "Encephalopathy, progressive, with or without lipodystrophy" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01705", "question": "What is associated with Dyssynergia?", "seeds": [ "Dyssynergia" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01706", "question": "What phenotype is associated with Microduplication Xp11.22p11.23 syndrome?", "seeds": [ "Microduplication Xp11.22p11.23 syndrome" ], "gold_answer": "Delayed speech and language development", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01707", "question": "What is associated with Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome?", "seeds": [ "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome" ], "gold_answer": "Abnormal superficial reflex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01708", "question": "What is associated with Cardiofaciocutaneous syndrome 4?", "seeds": [ "Cardiofaciocutaneous syndrome 4" ], "gold_answer": "Aplasia/Hypoplasia of the eyebrow", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01709", "question": "What is associated with Reduced muscle fiber alpha dystroglycan?", "seeds": [ "Reduced muscle fiber alpha dystroglycan" ], "gold_answer": "Abnormal muscle fiber protein expression", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01710", "question": "What phenotype is associated with Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4?", "seeds": [ "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4" ], "gold_answer": "Cerebellar ataxia associated with quadrupedal gait", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01711", "question": "What is associated with Congenital sensorineural hearing impairment?", "seeds": [ "Congenital sensorineural hearing impairment" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01712", "question": "What is associated with Decreased calvarial ossification?", "seeds": [ "Decreased calvarial ossification" ], "gold_answer": "Decreased skull ossification", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01713", "question": "What is associated with Hyperextensibility of the finger joints?", "seeds": [ "Hyperextensibility of the finger joints" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01714", "question": "What is associated with Huntington disease-like 1?", "seeds": [ "Huntington disease-like 1" ], "gold_answer": "Impairment in personality functioning", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01715", "question": "What is associated with Microdontia of primary teeth?", "seeds": [ "Microdontia of primary teeth" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01716", "question": "What is associated with Hypoplasia of the ulna?", "seeds": [ "Hypoplasia of the ulna" ], "gold_answer": "Aplasia/Hypoplasia of the ulna", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01717", "question": "What is associated with Decreased beta-glucocerebrosidase level?", "seeds": [ "Decreased beta-glucocerebrosidase level" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01718", "question": "What is associated with Elevated urinary glyoxylic acid level?", "seeds": [ "Elevated urinary glyoxylic acid level" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01719", "question": "What phenotype is associated with Aarskog-Scott syndrome?", "seeds": [ "Aarskog-Scott syndrome" ], "gold_answer": "Pectus excavatum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01720", "question": "What is associated with Moderate postnatal growth retardation?", "seeds": [ "Moderate postnatal growth retardation" ], "gold_answer": "Postnatal growth retardation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01721", "question": "What is associated with Dystonia 31?", "seeds": [ "Dystonia 31" ], "gold_answer": "Abnormal affect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01722", "question": "What is associated with Landau-Kleffner syndrome?", "seeds": [ "Landau-Kleffner syndrome" ], "gold_answer": "EEG with temporal epileptiform discharges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01723", "question": "What phenotype is associated with Amyotrophic lateral sclerosis 16, juvenile?", "seeds": [ "Amyotrophic lateral sclerosis 16, juvenile" ], "gold_answer": "Fatigable weakness of swallowing muscles", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01724", "question": "What is associated with Intellectual disability-seizures-macrocephaly-obesity syndrome?", "seeds": [ "Intellectual disability-seizures-macrocephaly-obesity syndrome" ], "gold_answer": "Aplasia/Hypoplasia involving bones of the skull", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01725", "question": "What is associated with Abnormal sperm physiology?", "seeds": [ "Abnormal sperm physiology" ], "gold_answer": "Abnormality of reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01726", "question": "What phenotype is associated with L-Arginine:glycine amidinotransferase deficiency?", "seeds": [ "L-Arginine:glycine amidinotransferase deficiency" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01727", "question": "What is associated with Patchy sclerosis of the proximal phalanx of the 4th finger?", "seeds": [ "Patchy sclerosis of the proximal phalanx of the 4th finger" ], "gold_answer": "Patchy sclerosis of finger phalanx", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01728", "question": "What is associated with Ventriculomegaly and arthrogryposis?", "seeds": [ "Ventriculomegaly and arthrogryposis" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01729", "question": "What is associated with Functional abnormality of the inner ear?", "seeds": [ "Functional abnormality of the inner ear" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01730", "question": "What is associated with Focal aware cognitive seizure with neglect?", "seeds": [ "Focal aware cognitive seizure with neglect" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01731", "question": "What is associated with Abnormal facial shape?", "seeds": [ "Abnormal facial shape" ], "gold_answer": "Abnormality of head or neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01732", "question": "What is associated with Perinuclear antineutrophil antibody positivity?", "seeds": [ "Perinuclear antineutrophil antibody positivity" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01733", "question": "What is associated with X-linked progressive cerebellar ataxia?", "seeds": [ "X-linked progressive cerebellar ataxia" ], "gold_answer": "Areflexia of lower limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01734", "question": "What is associated with Microgastria?", "seeds": [ "Microgastria" ], "gold_answer": "Abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01735", "question": "What is associated with FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome?", "seeds": [ "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome" ], "gold_answer": "Spinal cord lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01736", "question": "What is associated with Absent epiphysis of the middle phalanx of the 3rd toe?", "seeds": [ "Absent epiphysis of the middle phalanx of the 3rd toe" ], "gold_answer": "Abnormality of the epiphysis of the middle phalanx of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01737", "question": "What is associated with Retinal calcification?", "seeds": [ "Retinal calcification" ], "gold_answer": "Abnormality of the skeletal system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01738", "question": "What is associated with Abnormal pineal morphology?", "seeds": [ "Abnormal pineal morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01739", "question": "What is associated with Elevated urinary coproporphyrin level?", "seeds": [ "Elevated urinary coproporphyrin level" ], "gold_answer": "Abnormal urinary organic compound level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01740", "question": "What is associated with Postexertional symptom exacerbation?", "seeds": [ "Postexertional symptom exacerbation" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01741", "question": "What is associated with Generalized non-motor (absence) seizure?", "seeds": [ "Generalized non-motor (absence) seizure" ], "gold_answer": "Non-motor seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01742", "question": "What is associated with Spontaneous rupture of the globe?", "seeds": [ "Spontaneous rupture of the globe" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01743", "question": "What is associated with Epilepsy, progressive myoclonic, 11?", "seeds": [ "Epilepsy, progressive myoclonic, 11" ], "gold_answer": "Cerebellar hypoplasia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01744", "question": "What is associated with Pinhole visual acuity 1.1 LogMAR?", "seeds": [ "Pinhole visual acuity 1.1 LogMAR" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01745", "question": "What is associated with Reduced circulating 5-oxoprolinase activity?", "seeds": [ "Reduced circulating 5-oxoprolinase activity" ], "gold_answer": "Abnormal circulating enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01746", "question": "What phenotype is associated with Seborrhea-Like dermatitis with psoriasiform elements?", "seeds": [ "Seborrhea-Like dermatitis with psoriasiform elements" ], "gold_answer": "Hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01747", "question": "What is associated with Familial hyperprolactinemia?", "seeds": [ "Familial hyperprolactinemia" ], "gold_answer": "Hypogonadism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01748", "question": "What phenotype is associated with Autosomal spastic paraplegia type 58?", "seeds": [ "Autosomal spastic paraplegia type 58" ], "gold_answer": "Intention tremor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01749", "question": "What is associated with Splenic necrosis?", "seeds": [ "Splenic necrosis" ], "gold_answer": "Abnormality of the abdominal organs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01750", "question": "What is associated with Thickening of glomerular capillary wall?", "seeds": [ "Thickening of glomerular capillary wall" ], "gold_answer": "Abnormal renal corpuscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01751", "question": "What is associated with Abnormal isoelectric focusing of serum transferrin?", "seeds": [ "Abnormal isoelectric focusing of serum transferrin" ], "gold_answer": "Abnormal glycosylation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01752", "question": "What is associated with Frontal encephalocele?", "seeds": [ "Frontal encephalocele" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01753", "question": "What is associated with Hypotension?", "seeds": [ "Hypotension" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01754", "question": "What is associated with 8p23.1 microdeletion syndrome?", "seeds": [ "8p23.1 microdeletion syndrome" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01755", "question": "What is associated with Cardiomyopathy, familial hypertrophic, 9?", "seeds": [ "Cardiomyopathy, familial hypertrophic, 9" ], "gold_answer": "Cardiomyopathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01756", "question": "What is associated with Reduced circulating acetylcarnitine concentration?", "seeds": [ "Reduced circulating acetylcarnitine concentration" ], "gold_answer": "Reduced circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01757", "question": "What is associated with Cone-shaped epiphysis of the proximal phalanx of the hallux?", "seeds": [ "Cone-shaped epiphysis of the proximal phalanx of the hallux" ], "gold_answer": "Cone-shaped epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01758", "question": "What is associated with 1-3 finger cutaneous syndactyly?", "seeds": [ "1-3 finger cutaneous syndactyly" ], "gold_answer": "Cutaneous finger syndactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01759", "question": "What is associated with Tooth abscess?", "seeds": [ "Tooth abscess" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01760", "question": "What is associated with Neonatal seizure with unilateral automatism?", "seeds": [ "Neonatal seizure with unilateral automatism" ], "gold_answer": "Neonatal electro-clinical seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01761", "question": "What is associated with Albinism, oculocutaneous, type IV?", "seeds": [ "Albinism, oculocutaneous, type IV" ], "gold_answer": "Aplasia/Hypoplasia of the macula", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01762", "question": "What is associated with Anti-myelin oligodendrocyte glycoprotein antibody positivity?", "seeds": [ "Anti-myelin oligodendrocyte glycoprotein antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01763", "question": "What is associated with Focal lupus nephritis?", "seeds": [ "Focal lupus nephritis" ], "gold_answer": "Lupus nephritis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01764", "question": "What is associated with Pace of progression?", "seeds": [ "Pace of progression" ], "gold_answer": "Clinical course", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01765", "question": "What is associated with Palmoplantar cutis laxa?", "seeds": [ "Palmoplantar cutis laxa" ], "gold_answer": "Excessive wrinkling of palmar skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01766", "question": "What is associated with Trisomy 4p syndrome?", "seeds": [ "Trisomy 4p syndrome" ], "gold_answer": "Abnormal location of ears", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01767", "question": "What is associated with Asternia?", "seeds": [ "Asternia" ], "gold_answer": "Aplasia/Hypoplasia of the sternum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01768", "question": "What is associated with Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2?", "seeds": [ "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2" ], "gold_answer": "GLT8D1", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_dev_01769", "question": "What is associated with Impaired tactile sensation?", "seeds": [ "Impaired tactile sensation" ], "gold_answer": "Abnormal exteroceptive sensation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01770", "question": "What is associated with Elevated circulating glycolate concentration?", "seeds": [ "Elevated circulating glycolate concentration" ], "gold_answer": "Abnormal circulating carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01771", "question": "What is associated with Gastric cancer, hereditary diffuse?", "seeds": [ "Gastric cancer, hereditary diffuse" ], "gold_answer": "Abnormal gastric mucosa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01772", "question": "What is associated with Nuchal bleb, familial?", "seeds": [ "Nuchal bleb, familial" ], "gold_answer": "Abnormal capillary physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01773", "question": "What is associated with Spasticity of pharyngeal muscles?", "seeds": [ "Spasticity of pharyngeal muscles" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01774", "question": "What phenotype is associated with Thyrotoxic periodic paralysis?", "seeds": [ "Thyrotoxic periodic paralysis" ], "gold_answer": "Decreased thyroid-stimulating hormone level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01775", "question": "What phenotype is associated with Spinal arachnoid cyst?", "seeds": [ "Spinal arachnoid cyst" ], "gold_answer": "Aplasia/Hypoplasia of the corpus callosum", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01776", "question": "What is associated with Abnormal inferior alveolar artery morphology?", "seeds": [ "Abnormal inferior alveolar artery morphology" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01777", "question": "What is associated with Pinealoma?", "seeds": [ "Pinealoma" ], "gold_answer": "Neuroectodermal neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01778", "question": "What phenotype is associated with Microtia, third degree?", "seeds": [ "Microtia, third degree" ], "gold_answer": "Hypotelorism", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01779", "question": "What phenotype is associated with Congenital hemidysplasia with ichthyosiform erythroderma and limb defects?", "seeds": [ "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects" ], "gold_answer": "Hydronephrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01780", "question": "What is associated with Osteolytic defect of the proximal phalanx of the thumb?", "seeds": [ "Osteolytic defect of the proximal phalanx of the thumb" ], "gold_answer": "Osteolytic defects of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01781", "question": "What is associated with Abnormal respiratory motile cilium physiology?", "seeds": [ "Abnormal respiratory motile cilium physiology" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01782", "question": "What is associated with Spondylitis?", "seeds": [ "Spondylitis" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01783", "question": "What is associated with Abnormal large intestine morphology?", "seeds": [ "Abnormal large intestine morphology" ], "gold_answer": "Abnormal digestive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01784", "question": "What is associated with Enlarged lacrimal glands?", "seeds": [ "Enlarged lacrimal glands" ], "gold_answer": "Abnormal lacrimal gland morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01785", "question": "What is associated with Multiple pulmonary interstitial hyalinized nodules?", "seeds": [ "Multiple pulmonary interstitial hyalinized nodules" ], "gold_answer": "Abnormal pulmonary interstitial morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01786", "question": "What is associated with Requires heterozygosity?", "seeds": [ "Requires heterozygosity" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01787", "question": "What phenotype is associated with Immunodeficiency 133 with autoimmunity and autoinflammation?", "seeds": [ "Immunodeficiency 133 with autoimmunity and autoinflammation" ], "gold_answer": "Increased circulating IgA concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01788", "question": "What is associated with Dysharmonic accelerated bone age?", "seeds": [ "Dysharmonic accelerated bone age" ], "gold_answer": "Abnormality of skeletal maturation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01789", "question": "What is associated with Midline notching of lower lip?", "seeds": [ "Midline notching of lower lip" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01790", "question": "What phenotype is associated with Lissencephaly 10?", "seeds": [ "Lissencephaly 10" ], "gold_answer": "Short attention span", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01791", "question": "What phenotype is associated with Ovarian cancer?", "seeds": [ "Ovarian cancer" ], "gold_answer": "Dysgerminoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01792", "question": "What is associated with High-frequency hearing impairment?", "seeds": [ "High-frequency hearing impairment" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01793", "question": "What is associated with Acne inversa, familial?", "seeds": [ "Acne inversa, familial" ], "gold_answer": "Localized skin lesion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01794", "question": "What is associated with Abnormal sebaceous gland morphology?", "seeds": [ "Abnormal sebaceous gland morphology" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01795", "question": "What is associated with Abnormal nasal bone morphology?", "seeds": [ "Abnormal nasal bone morphology" ], "gold_answer": "Abnormal nasal skeleton morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01796", "question": "What is associated with TSH-secreting pituitary adenoma?", "seeds": [ "TSH-secreting pituitary adenoma" ], "gold_answer": "Decreased response to growth hormone stimulation test", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01797", "question": "What is associated with Abnormal large intestinal mucosa morphology?", "seeds": [ "Abnormal large intestinal mucosa morphology" ], "gold_answer": "Abnormal gastrointestinal tract morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01798", "question": "What is associated with Elevated urine pyrophosphate?", "seeds": [ "Elevated urine pyrophosphate" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01799", "question": "What is associated with Perinephric fluid collection?", "seeds": [ "Perinephric fluid collection" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01800", "question": "What is associated with Ivory epiphysis of the distal phalanx of the 4th toe?", "seeds": [ "Ivory epiphysis of the distal phalanx of the 4th toe" ], "gold_answer": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01801", "question": "What is associated with SLC35A2-CDG?", "seeds": [ "SLC35A2-CDG" ], "gold_answer": "Abnormal fetal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01802", "question": "What is associated with Fetal pyelectasis?", "seeds": [ "Fetal pyelectasis" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01803", "question": "What is associated with Pseudoepiphyses of the 4th toe?", "seeds": [ "Pseudoepiphyses of the 4th toe" ], "gold_answer": "Pseudoepiphyses", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01804", "question": "What is associated with CTCF-related neurodevelopmental disorder?", "seeds": [ "CTCF-related neurodevelopmental disorder" ], "gold_answer": "Abnormality of refraction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01805", "question": "What is associated with Lethal infantile mitochondrial myopathy?", "seeds": [ "Lethal infantile mitochondrial myopathy" ], "gold_answer": "External ophthalmoplegia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01806", "question": "What phenotype is associated with Interstitial pneumonitis, desquamative, familial?", "seeds": [ "Interstitial pneumonitis, desquamative, familial" ], "gold_answer": "Tachypnea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01807", "question": "What is associated with Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells?", "seeds": [ "Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells" ], "gold_answer": "Abnormal tissue metabolite concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01808", "question": "What is associated with Ceroid lipofuscinosis, neuronal, 9?", "seeds": [ "Ceroid lipofuscinosis, neuronal, 9" ], "gold_answer": "Mental deterioration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01809", "question": "What is associated with Increased antral follicle count?", "seeds": [ "Increased antral follicle count" ], "gold_answer": "Abnormal ovarian physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01810", "question": "What is associated with Breast-Ovarian cancer, familial, susceptibility to, 1?", "seeds": [ "Breast-Ovarian cancer, familial, susceptibility to, 1" ], "gold_answer": "Neoplasm of the breast", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01811", "question": "What is associated with Familial peripheral male-limited precocious puberty?", "seeds": [ "Familial peripheral male-limited precocious puberty" ], "gold_answer": "Inflammatory abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01812", "question": "What is associated with Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome?", "seeds": [ "Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome" ], "gold_answer": "Interphalangeal joint contracture of finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01813", "question": "What phenotype is associated with Postorgasmic illness syndrome?", "seeds": [ "Postorgasmic illness syndrome" ], "gold_answer": "Photophobia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01814", "question": "What is associated with Macular exudate?", "seeds": [ "Macular exudate" ], "gold_answer": "Abnormal macular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01815", "question": "What is associated with Mitochondrial swelling?", "seeds": [ "Mitochondrial swelling" ], "gold_answer": "Abnormality of the mitochondrion", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01816", "question": "What is associated with Peroxisome biogenesis disorder 5A (Zellweger)?", "seeds": [ "Peroxisome biogenesis disorder 5A (Zellweger)" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01817", "question": "What is associated with LCAT deficiency?", "seeds": [ "LCAT deficiency" ], "gold_answer": "Abnormal cornea morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01818", "question": "What is associated with EEG with occipital sharp waves?", "seeds": [ "EEG with occipital sharp waves" ], "gold_answer": "Interictal epileptiform activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01819", "question": "What is associated with Finger pain?", "seeds": [ "Finger pain" ], "gold_answer": "Limb pain", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01820", "question": "What is associated with Abnormal hepatic iron concentration?", "seeds": [ "Abnormal hepatic iron concentration" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01821", "question": "What is associated with Obstipation?", "seeds": [ "Obstipation" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01822", "question": "What is associated with ITM2B amyloidosis?", "seeds": [ "ITM2B amyloidosis" ], "gold_answer": "Mental deterioration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01823", "question": "What is associated with Arthrogryposis multiplex congenita, Neurogenic type?", "seeds": [ "Arthrogryposis multiplex congenita, Neurogenic type" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01824", "question": "What is associated with Decreased HDL2b concentration?", "seeds": [ "Decreased HDL2b concentration" ], "gold_answer": "Abnormal HDL subfraction concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01825", "question": "What is associated with Macular hyperpigmented dermopathy?", "seeds": [ "Macular hyperpigmented dermopathy" ], "gold_answer": "Hypermelanotic macule", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01826", "question": "What is associated with Testicular gonadoblastoma?", "seeds": [ "Testicular gonadoblastoma" ], "gold_answer": "Ovarian neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01827", "question": "What is associated with Elevated intestinal alkaline phosphatase?", "seeds": [ "Elevated intestinal alkaline phosphatase" ], "gold_answer": "Abnormality of alkaline phosphatase level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01828", "question": "What is associated with Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads?", "seeds": [ "Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" ], "gold_answer": "Telangiectasia of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01829", "question": "What is associated with Agnathia-holoprosencephaly-situs inversus syndrome?", "seeds": [ "Agnathia-holoprosencephaly-situs inversus syndrome" ], "gold_answer": "Abnormality of the genitourinary system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01830", "question": "What is associated with Deafness-craniofacial syndrome?", "seeds": [ "Deafness-craniofacial syndrome" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01831", "question": "What is associated with Elevated right atrial pressure?", "seeds": [ "Elevated right atrial pressure" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01832", "question": "What is associated with Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans?", "seeds": [ "Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01833", "question": "What is associated with Endocardial fibroelastosis and coarctation of abdominal aorta?", "seeds": [ "Endocardial fibroelastosis and coarctation of abdominal aorta" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01834", "question": "What phenotype is associated with Scholte syndrome?", "seeds": [ "Scholte syndrome" ], "gold_answer": "Dolichocephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01835", "question": "What is associated with 46XY gonadal dysgenesis with minifascicular neuropathy?", "seeds": [ "46XY gonadal dysgenesis with minifascicular neuropathy" ], "gold_answer": "Impaired proprioception", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01836", "question": "What is associated with Machado-Joseph disease type 2?", "seeds": [ "Machado-Joseph disease type 2" ], "gold_answer": "Fasciculations", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01837", "question": "What is associated with Joubert syndrome 31?", "seeds": [ "Joubert syndrome 31" ], "gold_answer": "Aplasia/Hypoplasia of the corpus callosum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01838", "question": "What is associated with Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4?", "seeds": [ "Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01839", "question": "What is associated with Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7?", "seeds": [ "Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7" ], "gold_answer": "Abnormal platelet morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01840", "question": "What is associated with Lipodystrophy, congenital generalized, type 4?", "seeds": [ "Lipodystrophy, congenital generalized, type 4" ], "gold_answer": "Abnormal musculoskeletal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01841", "question": "What is associated with Hyporeflective spaces on macular OCT?", "seeds": [ "Hyporeflective spaces on macular OCT" ], "gold_answer": "Abnormal retinal morphology on macular OCT", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01842", "question": "What is associated with Cone-shaped epiphyses of the proximal phalanges of the hand?", "seeds": [ "Cone-shaped epiphyses of the proximal phalanges of the hand" ], "gold_answer": "Abnormal proximal phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01843", "question": "What is associated with Delayed cranial suture closure?", "seeds": [ "Delayed cranial suture closure" ], "gold_answer": "Abnormality of cranial sutures", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01844", "question": "What is associated with Intellectual developmental disorder, X-linked 23?", "seeds": [ "Intellectual developmental disorder, X-linked 23" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01845", "question": "What phenotype is associated with Spinal arachnoid cyst?", "seeds": [ "Spinal arachnoid cyst" ], "gold_answer": "Abnormal cerebellum morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01846", "question": "What is associated with Chronic hemolytic anemia?", "seeds": [ "Chronic hemolytic anemia" ], "gold_answer": "Hemolytic anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01847", "question": "What is associated with Abnormal facial artery morphology?", "seeds": [ "Abnormal facial artery morphology" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01848", "question": "What is associated with Abnormal tongue physiology?", "seeds": [ "Abnormal tongue physiology" ], "gold_answer": "Abnormality of the mouth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01849", "question": "What is associated with Increased urinary thiosulfate?", "seeds": [ "Increased urinary thiosulfate" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01850", "question": "What phenotype is associated with Familial dysautonomia?", "seeds": [ "Familial dysautonomia" ], "gold_answer": "Abnormality of the pleura", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01851", "question": "What is associated with Deafness, autosomal recessive 89?", "seeds": [ "Deafness, autosomal recessive 89" ], "gold_answer": "Functional abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01852", "question": "What phenotype is associated with Charcot-Marie-Tooth disease, axonal, type 2JJ?", "seeds": [ "Charcot-Marie-Tooth disease, axonal, type 2JJ" ], "gold_answer": "Hip flexor weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01853", "question": "What is associated with Spleen hamartoma?", "seeds": [ "Spleen hamartoma" ], "gold_answer": "Neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01854", "question": "What is associated with Intestinal ischemia?", "seeds": [ "Intestinal ischemia" ], "gold_answer": "Abnormal arterial physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01855", "question": "What is associated with Increased circulating creatine kinase BB isoform?", "seeds": [ "Increased circulating creatine kinase BB isoform" ], "gold_answer": "Abnormal circulating enzyme concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01856", "question": "What is associated with Proximal lower limb muscle weakness?", "seeds": [ "Proximal lower limb muscle weakness" ], "gold_answer": "Abnormality of the musculature of the limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01857", "question": "What is associated with Aplasia of the distal phalanx of the 4th toe?", "seeds": [ "Aplasia of the distal phalanx of the 4th toe" ], "gold_answer": "Aplasia/Hypoplasia of the distal phalanx of the 4th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01858", "question": "What is associated with Abnormal phytanic acid:pristanic acid ratio?", "seeds": [ "Abnormal phytanic acid:pristanic acid ratio" ], "gold_answer": "Abnormal circulating fatty-acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01859", "question": "What is associated with Dysgenesis of the cerebellar vermis?", "seeds": [ "Dysgenesis of the cerebellar vermis" ], "gold_answer": "Abnormal metencephalon morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01860", "question": "What is associated with Anti-cytomegalovirus antibody positivity?", "seeds": [ "Anti-cytomegalovirus antibody positivity" ], "gold_answer": "Bloodstream virus-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01861", "question": "What is associated with Slit-like opening of the exterior auditory meatus?", "seeds": [ "Slit-like opening of the exterior auditory meatus" ], "gold_answer": "Stenosis of the external auditory canal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01862", "question": "What is associated with Cold-induced muscle cramps?", "seeds": [ "Cold-induced muscle cramps" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01863", "question": "What is associated with Pronoun reversal?", "seeds": [ "Pronoun reversal" ], "gold_answer": "Abnormal cognitive process", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01864", "question": "What is associated with Hyperekplexia-epilepsy syndrome?", "seeds": [ "Hyperekplexia-epilepsy syndrome" ], "gold_answer": "Encephalopathy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01865", "question": "What is associated with Corneal foreign body sensation?", "seeds": [ "Corneal foreign body sensation" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01866", "question": "What is associated with Aplasia/Hypoplasia of the uvula?", "seeds": [ "Aplasia/Hypoplasia of the uvula" ], "gold_answer": "Abnormal uvula morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01867", "question": "What is associated with Overriding atrioventricular valve?", "seeds": [ "Overriding atrioventricular valve" ], "gold_answer": "Abnormal connection of the cardiac segments", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01868", "question": "What phenotype is associated with Woods syndrome?", "seeds": [ "Woods syndrome" ], "gold_answer": "Frontal hirsutism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01869", "question": "What is associated with Deafness, autosomal recessive 37?", "seeds": [ "Deafness, autosomal recessive 37" ], "gold_answer": "Nyctalopia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01870", "question": "What is associated with Persistent human papillomavirus infection?", "seeds": [ "Persistent human papillomavirus infection" ], "gold_answer": "Severe infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01871", "question": "What phenotype is associated with Combined oxidative phosphorylation deficiency 60?", "seeds": [ "Combined oxidative phosphorylation deficiency 60" ], "gold_answer": "Increased circulating lactate concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01872", "question": "What is associated with Reduced antigen-specific T cell proliferation?", "seeds": [ "Reduced antigen-specific T cell proliferation" ], "gold_answer": "Abnormal lymphocyte physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01873", "question": "What is associated with Enlarged epiphyses of the phalanges of the hand?", "seeds": [ "Enlarged epiphyses of the phalanges of the hand" ], "gold_answer": "Abnormal hand epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01874", "question": "What is associated with Periumbilical?", "seeds": [ "Periumbilical" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01875", "question": "What is associated with Sclerosis of the middle phalanx of the 3rd toe?", "seeds": [ "Sclerosis of the middle phalanx of the 3rd toe" ], "gold_answer": "Sclerosis of middle phalanx of toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01876", "question": "What is associated with Maceration?", "seeds": [ "Maceration" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01877", "question": "What is associated with Low anterior hairline?", "seeds": [ "Low anterior hairline" ], "gold_answer": "Congenital abnormal hair pattern", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01878", "question": "What is associated with Hooded lower eyelid?", "seeds": [ "Hooded lower eyelid" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01879", "question": "What is associated with Decreased central memory CD8+ T cell proportion?", "seeds": [ "Decreased central memory CD8+ T cell proportion" ], "gold_answer": "Abnormal memory CD8+ T cell proportion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01880", "question": "What is associated with Descending aortic dissection?", "seeds": [ "Descending aortic dissection" ], "gold_answer": "Aortic dissection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01881", "question": "What is associated with Increased effector memory CD8+ T cell proportion?", "seeds": [ "Increased effector memory CD8+ T cell proportion" ], "gold_answer": "Increased CD8+ memory T cell proportion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01882", "question": "What is associated with Fatigable weakness?", "seeds": [ "Fatigable weakness" ], "gold_answer": "Abnormal synaptic transmission at the neuromuscular junction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01883", "question": "What is associated with Aplasia/Hypoplasia of the middle ear?", "seeds": [ "Aplasia/Hypoplasia of the middle ear" ], "gold_answer": "Abnormality of the ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01884", "question": "What is associated with Limited knee flexion?", "seeds": [ "Limited knee flexion" ], "gold_answer": "Abnormality of the knee", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01885", "question": "What is associated with Arthrogryposis, distal, type 1B?", "seeds": [ "Arthrogryposis, distal, type 1B" ], "gold_answer": "Positional foot deformity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01886", "question": "What is associated with Congenital hereditary endothelial dystrophy type II?", "seeds": [ "Congenital hereditary endothelial dystrophy type II" ], "gold_answer": "Abnormality of the curvature of the cornea", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01887", "question": "What is associated with Carney complex, type 1?", "seeds": [ "Carney complex, type 1" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01888", "question": "What is associated with Beta-aminoisobutyric aciduria?", "seeds": [ "Beta-aminoisobutyric aciduria" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01889", "question": "What is associated with Scalp defects-postaxial polydactyly syndrome?", "seeds": [ "Scalp defects-postaxial polydactyly syndrome" ], "gold_answer": "Hand polydactyly", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01890", "question": "What is associated with Mild short stature?", "seeds": [ "Mild short stature" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01891", "question": "What phenotype is associated with Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency?", "seeds": [ "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" ], "gold_answer": "Abnormal circulating interleukin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01892", "question": "What is associated with Cognitive regression?", "seeds": [ "Cognitive regression" ], "gold_answer": "Neurodevelopmental abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01893", "question": "What is associated with Abnormal radial metaphysis morphology?", "seeds": [ "Abnormal radial metaphysis morphology" ], "gold_answer": "Abnormal forearm bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01894", "question": "What is associated with Anhidrotic ectodermal dysplasia?", "seeds": [ "Anhidrotic ectodermal dysplasia" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01895", "question": "What is associated with Red desaturation?", "seeds": [ "Red desaturation" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01896", "question": "What phenotype is associated with Congenital laryngomalacia?", "seeds": [ "Congenital laryngomalacia" ], "gold_answer": "Cleft palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01897", "question": "What phenotype is associated with Spondyloperipheral dysplasia?", "seeds": [ "Spondyloperipheral dysplasia" ], "gold_answer": "Shortening of all proximal phalanges of the fingers", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01898", "question": "What is associated with Cerebral cavernous malformations 1?", "seeds": [ "Cerebral cavernous malformations 1" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01899", "question": "What is associated with Widened interpedicular distance?", "seeds": [ "Widened interpedicular distance" ], "gold_answer": "Vertebral arch anomaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01900", "question": "What is associated with Shaheen syndrome?", "seeds": [ "Shaheen syndrome" ], "gold_answer": "Hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01901", "question": "What is associated with Retrocorneal membrane?", "seeds": [ "Retrocorneal membrane" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01902", "question": "What is associated with Short intermamillary distance?", "seeds": [ "Short intermamillary distance" ], "gold_answer": "Abnormal nipple morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01903", "question": "What phenotype is associated with Secondary hypoparathyroidism due to impaired parathormon secretion?", "seeds": [ "Secondary hypoparathyroidism due to impaired parathormon secretion" ], "gold_answer": "Hypoesthesia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01904", "question": "What is associated with Exstrophy?", "seeds": [ "Exstrophy" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01905", "question": "What phenotype is associated with Spermatogenic failure 77?", "seeds": [ "Spermatogenic failure 77" ], "gold_answer": "Elevated circulating follicle stimulating hormone level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01906", "question": "What is associated with Cataplexy?", "seeds": [ "Cataplexy" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01907", "question": "What is associated with X-linked intellectual disability-psychosis-macroorchidism syndrome?", "seeds": [ "X-linked intellectual disability-psychosis-macroorchidism syndrome" ], "gold_answer": "Abnormal testis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01908", "question": "What is associated with Amyelia?", "seeds": [ "Amyelia" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01909", "question": "What is associated with Focal cortical dysplasia type Ic?", "seeds": [ "Focal cortical dysplasia type Ic" ], "gold_answer": "Focal cortical dysplasia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01910", "question": "What is associated with Abnormal enchondral ossification?", "seeds": [ "Abnormal enchondral ossification" ], "gold_answer": "Abnormal bone structure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01911", "question": "What is associated with Methylmalonate semialdehyde dehydrogenase deficiency?", "seeds": [ "Methylmalonate semialdehyde dehydrogenase deficiency" ], "gold_answer": "Aplasia/Hypoplasia affecting the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01912", "question": "What is associated with Androgen insensitivity syndrome?", "seeds": [ "Androgen insensitivity syndrome" ], "gold_answer": "Abnormal circulating luteinizing hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01913", "question": "What is associated with Absent epiphyses of the 3rd toe?", "seeds": [ "Absent epiphyses of the 3rd toe" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01914", "question": "What phenotype is associated with Nemaline myopathy 4?", "seeds": [ "Nemaline myopathy 4" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01915", "question": "What is associated with Abnormal palmar dermatoglyphics?", "seeds": [ "Abnormal palmar dermatoglyphics" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01916", "question": "What is associated with Fetal phenobarbital exposure?", "seeds": [ "Fetal phenobarbital exposure" ], "gold_answer": "Pregnancy history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01917", "question": "What phenotype is associated with Indolent systemic mastocytosis?", "seeds": [ "Indolent systemic mastocytosis" ], "gold_answer": "Flushing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01918", "question": "What is associated with Hypometric saccades?", "seeds": [ "Hypometric saccades" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01919", "question": "What phenotype is associated with Acrorenal-Mandibular syndrome?", "seeds": [ "Acrorenal-Mandibular syndrome" ], "gold_answer": "Hemivertebrae", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01920", "question": "What is associated with Multiple pterygium syndrome, X-linked?", "seeds": [ "Multiple pterygium syndrome, X-linked" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01921", "question": "What is associated with Cerebellar atrophy?", "seeds": [ "Cerebellar atrophy" ], "gold_answer": "Abnormal cerebellum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01922", "question": "What is associated with Abnormal circulating complement factor H related protein 1 concentration?", "seeds": [ "Abnormal circulating complement factor H related protein 1 concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01923", "question": "What phenotype is associated with Intellectual disability-seizures-macrocephaly-obesity syndrome?", "seeds": [ "Intellectual disability-seizures-macrocephaly-obesity syndrome" ], "gold_answer": "High, narrow palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01924", "question": "What is associated with Diabetes mellitus, insulin-dependent-1?", "seeds": [ "Diabetes mellitus, insulin-dependent-1" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01925", "question": "What is associated with Abnormality of body height?", "seeds": [ "Abnormality of body height" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01926", "question": "What is associated with Infantile constant exotropia?", "seeds": [ "Infantile constant exotropia" ], "gold_answer": "Heterotropia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01927", "question": "What is associated with Deafness, autosomal dominant 3B?", "seeds": [ "Deafness, autosomal dominant 3B" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01928", "question": "What is associated with Orofacial cleft 10?", "seeds": [ "Orofacial cleft 10" ], "gold_answer": "Non-midline cleft of the upper lip", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01929", "question": "What is associated with High serum osmolality?", "seeds": [ "High serum osmolality" ], "gold_answer": "Abnormality of fluid regulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01930", "question": "What phenotype is associated with Orofaciodigital syndrome VIII?", "seeds": [ "Orofaciodigital syndrome VIII" ], "gold_answer": "Telecanthus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01931", "question": "What is associated with Mitral opening snap?", "seeds": [ "Mitral opening snap" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01932", "question": "What phenotype is associated with Mitochondrial complex IV deficiency, nuclear type 13?", "seeds": [ "Mitochondrial complex IV deficiency, nuclear type 13" ], "gold_answer": "Lactic acidosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01933", "question": "What is associated with Ameliorated by exposure to medication?", "seeds": [ "Ameliorated by exposure to medication" ], "gold_answer": "Ameliorated by", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01934", "question": "What is associated with Multiple small vertebral fractures?", "seeds": [ "Multiple small vertebral fractures" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01935", "question": "What is associated with Atrial septal defect 1?", "seeds": [ "Atrial septal defect 1" ], "gold_answer": "Tetralogy of Fallot", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01936", "question": "What is associated with Telangiectasia?", "seeds": [ "Telangiectasia" ], "gold_answer": "Generalized abnormality of skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01937", "question": "What is associated with Premature ejaculation?", "seeds": [ "Premature ejaculation" ], "gold_answer": "Abnormality of reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01938", "question": "What is associated with Lobulated tongue?", "seeds": [ "Lobulated tongue" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01939", "question": "What is associated with Multiple sclerosis, susceptibility to?", "seeds": [ "Multiple sclerosis, susceptibility to" ], "gold_answer": "Upper motor neuron dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01940", "question": "What is associated with Acute liver failure?", "seeds": [ "Acute liver failure" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01941", "question": "What is associated with Palmoplantar peeling?", "seeds": [ "Palmoplantar peeling" ], "gold_answer": "Abnormality of the plantar skin of foot", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01942", "question": "What is associated with Cat-eye syndrome?", "seeds": [ "Cat-eye syndrome" ], "gold_answer": "Abnormal pelvic girdle bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01943", "question": "What is associated with Triangular shaped phalanges of the toes?", "seeds": [ "Triangular shaped phalanges of the toes" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01944", "question": "What is associated with Hypoplasia of the dental root?", "seeds": [ "Hypoplasia of the dental root" ], "gold_answer": "Abnormal dental morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01945", "question": "What phenotype is associated with Ectrodactyly-polydactyly syndrome?", "seeds": [ "Ectrodactyly-polydactyly syndrome" ], "gold_answer": "Ectrodactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01946", "question": "What is associated with X-linked spastic paraplegia type 34?", "seeds": [ "X-linked spastic paraplegia type 34" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01947", "question": "What is associated with Glomerular subendothelial electron-dense deposits?", "seeds": [ "Glomerular subendothelial electron-dense deposits" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01948", "question": "What is associated with Failure of phenylephrine to induce blanching of eye redness?", "seeds": [ "Failure of phenylephrine to induce blanching of eye redness" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01949", "question": "What is associated with Spinocerebellar ataxia 19?", "seeds": [ "Spinocerebellar ataxia 19" ], "gold_answer": "Ataxia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01950", "question": "What is associated with Complex febrile seizure?", "seeds": [ "Complex febrile seizure" ], "gold_answer": "Infection-related seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01951", "question": "What is associated with Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome?", "seeds": [ "Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome" ], "gold_answer": "DHX30", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_01952", "question": "What is associated with Absent scrotum?", "seeds": [ "Absent scrotum" ], "gold_answer": "Abnormal scrotum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01953", "question": "What is associated with Morvan syndrome?", "seeds": [ "Morvan syndrome" ], "gold_answer": "Autoimmunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01954", "question": "What is associated with Abnormal 4th finger phalanx morphology?", "seeds": [ "Abnormal 4th finger phalanx morphology" ], "gold_answer": "Abnormality of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01955", "question": "What is associated with Anti-chikungunya virus antibody positivity?", "seeds": [ "Anti-chikungunya virus antibody positivity" ], "gold_answer": "Bloodstream pathogen-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01956", "question": "What is associated with Rectourethral fistula?", "seeds": [ "Rectourethral fistula" ], "gold_answer": "Abnormality of the urethra", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01957", "question": "What is associated with Abnormal macrophage morphology?", "seeds": [ "Abnormal macrophage morphology" ], "gold_answer": "Abnormal myeloid leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01958", "question": "What is associated with Poikilocytosis?", "seeds": [ "Poikilocytosis" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01959", "question": "What is associated with Hyperinsulinism due to INSR deficiency?", "seeds": [ "Hyperinsulinism due to INSR deficiency" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01960", "question": "What is associated with Positive chlamydia trachomatis urine nucleic acid test?", "seeds": [ "Positive chlamydia trachomatis urine nucleic acid test" ], "gold_answer": "Positive urine infectious agent nucleic acid test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01961", "question": "What is associated with Abnormal CSF pyruvate family amino acid concentration?", "seeds": [ "Abnormal CSF pyruvate family amino acid concentration" ], "gold_answer": "Abnormal CSF carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01962", "question": "What phenotype is associated with Developmental and epileptic encephalopathy 1?", "seeds": [ "Developmental and epileptic encephalopathy 1" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01963", "question": "What phenotype is associated with Hereditary leiomyomatosis and renal cell cancer?", "seeds": [ "Hereditary leiomyomatosis and renal cell cancer" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01964", "question": "What is associated with Increased serum zinc?", "seeds": [ "Increased serum zinc" ], "gold_answer": "Abnormal blood transition element cation concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01965", "question": "What is associated with Rhomboid or triangular shaped 5th finger proximal phalanx?", "seeds": [ "Rhomboid or triangular shaped 5th finger proximal phalanx" ], "gold_answer": "Triangular shaped proximal phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01966", "question": "What is associated with Incomplete ossification of pubis?", "seeds": [ "Incomplete ossification of pubis" ], "gold_answer": "Abnormal enchondral ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01967", "question": "What is associated with Primary microcephaly?", "seeds": [ "Primary microcephaly" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01968", "question": "What is associated with Distal fifth finger symphalangism?", "seeds": [ "Distal fifth finger symphalangism" ], "gold_answer": "Abnormality of the distal phalanx of the 5th finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01969", "question": "What phenotype is associated with Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive?", "seeds": [ "Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive" ], "gold_answer": "Mitten deformity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01970", "question": "What is associated with Foveal hypoplasia 3?", "seeds": [ "Foveal hypoplasia 3" ], "gold_answer": "Aplasia/Hypoplasia of the fovea", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01971", "question": "What is associated with Posterior scalloping of vertebral bodies?", "seeds": [ "Posterior scalloping of vertebral bodies" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01972", "question": "What is associated with Humeral exostoses?", "seeds": [ "Humeral exostoses" ], "gold_answer": "Abnormal humerus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01973", "question": "What is associated with Absent cervical vertebra?", "seeds": [ "Absent cervical vertebra" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01974", "question": "What is associated with Focal impaired awareness autonomic seizure with urge to urinate/defecate?", "seeds": [ "Focal impaired awareness autonomic seizure with urge to urinate/defecate" ], "gold_answer": "Focal impaired awareness autonomic seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01975", "question": "What is associated with Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration?", "seeds": [ "Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01976", "question": "What is associated with GCGR-related hyperglucagonemia?", "seeds": [ "GCGR-related hyperglucagonemia" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01977", "question": "What is associated with Pear-shaped nose?", "seeds": [ "Pear-shaped nose" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01978", "question": "What is associated with Aprosencephaly?", "seeds": [ "Aprosencephaly" ], "gold_answer": "Aplasia/Hypoplasia of the cerebrum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01979", "question": "What is associated with Pain worse when lying flat?", "seeds": [ "Pain worse when lying flat" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01980", "question": "What is associated with Aplasia/Hypoplasia of the nasal septum?", "seeds": [ "Aplasia/Hypoplasia of the nasal septum" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01981", "question": "What is associated with Absent malleus?", "seeds": [ "Absent malleus" ], "gold_answer": "Abnormal middle ear morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01982", "question": "What phenotype is associated with Autosomal recessive spastic paraplegia type 64?", "seeds": [ "Autosomal recessive spastic paraplegia type 64" ], "gold_answer": "Abnormal cerebral white matter morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01983", "question": "What is associated with Fractured carpal bone?", "seeds": [ "Fractured carpal bone" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01984", "question": "What is associated with Colorectal polyposis?", "seeds": [ "Colorectal polyposis" ], "gold_answer": "Abnormal large intestine morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01985", "question": "What is associated with Seizures-intellectual disability due to hydroxylysinuria syndrome?", "seeds": [ "Seizures-intellectual disability due to hydroxylysinuria syndrome" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01986", "question": "What is associated with Abnormal carotid artery morphology?", "seeds": [ "Abnormal carotid artery morphology" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01987", "question": "What is associated with Greater auricular nerve thickening?", "seeds": [ "Greater auricular nerve thickening" ], "gold_answer": "Abnormal great auricular nerve morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01988", "question": "What is associated with Microcephaly, epilepsy, and diabetes syndrome 2?", "seeds": [ "Microcephaly, epilepsy, and diabetes syndrome 2" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01989", "question": "What is associated with Abnormal unaided visual acuity test?", "seeds": [ "Abnormal unaided visual acuity test" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01990", "question": "What is associated with Elevated circulating 2-aminoadipic acid concentration?", "seeds": [ "Elevated circulating 2-aminoadipic acid concentration" ], "gold_answer": "Abnormal circulating dicarboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01991", "question": "What phenotype is associated with Genitourinary and/or/brain malformation syndrome?", "seeds": [ "Genitourinary and/or/brain malformation syndrome" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01992", "question": "What is associated with Beckwith-Wiedemann syndrome due to 11p15 microdeletion?", "seeds": [ "Beckwith-Wiedemann syndrome due to 11p15 microdeletion" ], "gold_answer": "H19", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "role_in_the_phenotype_of" } }, { "query_id": "orph_dev_01993", "question": "What is associated with Oculofaciocardiodental syndrome?", "seeds": [ "Oculofaciocardiodental syndrome" ], "gold_answer": "LRP6", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_dev_01994", "question": "What is associated with Loeys-Dietz syndrome 1?", "seeds": [ "Loeys-Dietz syndrome 1" ], "gold_answer": "Abnormal rib morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01995", "question": "What is associated with Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8?", "seeds": [ "Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8" ], "gold_answer": "Decreased liver function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_01996", "question": "What is associated with Positive urine cannabinoid test?", "seeds": [ "Positive urine cannabinoid test" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_01997", "question": "What is associated with Increased CSF homovanillic acid concentration?", "seeds": [ "Increased CSF homovanillic acid concentration" ], "gold_answer": "Abnormal CSF homovanillic acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_01998", "question": "What phenotype is associated with Neuronopathy, distal hereditary motor, autosomal recessive 9?", "seeds": [ "Neuronopathy, distal hereditary motor, autosomal recessive 9" ], "gold_answer": "Babinski sign", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_01999", "question": "What is associated with Abnormality of pattern reversal visual evoked potentials?", "seeds": [ "Abnormality of pattern reversal visual evoked potentials" ], "gold_answer": "Abnormal brain-evoked potentials", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02000", "question": "What is associated with History of recent insect bite?", "seeds": [ "History of recent insect bite" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02001", "question": "What is associated with Increased RBC distribution width?", "seeds": [ "Increased RBC distribution width" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02002", "question": "What is associated with Bardet-Biedl syndrome 20?", "seeds": [ "Bardet-Biedl syndrome 20" ], "gold_answer": "Abnormal heart morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02003", "question": "What is associated with Biemond syndrome II?", "seeds": [ "Biemond syndrome II" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02004", "question": "What is associated with Levator palpebrae superioris atrophy?", "seeds": [ "Levator palpebrae superioris atrophy" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02005", "question": "What is associated with Type E brachydactyly?", "seeds": [ "Type E brachydactyly" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02006", "question": "What is associated with Microcephaly-short stature-limb abnormalities syndrome?", "seeds": [ "Microcephaly-short stature-limb abnormalities syndrome" ], "gold_answer": "DONSON", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_dev_02007", "question": "What is associated with Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included?", "seeds": [ "Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included" ], "gold_answer": "Abnormality of the spleen", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02008", "question": "What is associated with Loss of speech?", "seeds": [ "Loss of speech" ], "gold_answer": "Abnormal speech pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02009", "question": "What is associated with Microform unilateral cleft lip?", "seeds": [ "Microform unilateral cleft lip" ], "gold_answer": "Cleft lip", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02010", "question": "What is associated with Dental anomalies and short stature?", "seeds": [ "Dental anomalies and short stature" ], "gold_answer": "Abnormal form of the vertebral bodies", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02011", "question": "What is associated with Dysmetric saccades?", "seeds": [ "Dysmetric saccades" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02012", "question": "What is associated with Charcot-Marie-Tooth disease, demyelinating, type 1I?", "seeds": [ "Charcot-Marie-Tooth disease, demyelinating, type 1I" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02013", "question": "What phenotype is associated with Monilethrix?", "seeds": [ "Monilethrix" ], "gold_answer": "Social and occupational deterioration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02014", "question": "What is associated with Abnormal transition from sleep to wakefulness?", "seeds": [ "Abnormal transition from sleep to wakefulness" ], "gold_answer": "Sleep disturbance", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02015", "question": "What is associated with Elevated CSF sepiapterin concentration?", "seeds": [ "Elevated CSF sepiapterin concentration" ], "gold_answer": "Abnormal CSF pterin concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02016", "question": "What is associated with Eosinophilic granulomatosis with polyangiitis?", "seeds": [ "Eosinophilic granulomatosis with polyangiitis" ], "gold_answer": "Abnormal intestine morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02017", "question": "What is associated with T cell chronic lymphocytic lymphoma/leukemia?", "seeds": [ "T cell chronic lymphocytic lymphoma/leukemia" ], "gold_answer": "Lymphoid leukemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02018", "question": "What is associated with Chromosome 20q11-q12 deletion syndrome?", "seeds": [ "Chromosome 20q11-q12 deletion syndrome" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02019", "question": "What is associated with Hypogonadotropic hypogonadism 26 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 26 with or without anosmia" ], "gold_answer": "Puberty and gonadal disorders", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02020", "question": "What is associated with Numerous congenital melanocytic nevi?", "seeds": [ "Numerous congenital melanocytic nevi" ], "gold_answer": "Melanocytic nevus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02021", "question": "What is associated with X-linked intellectual disability, Nascimento type?", "seeds": [ "X-linked intellectual disability, Nascimento type" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02022", "question": "What is associated with Cardiomyopathy, familial hypertrophic, 17?", "seeds": [ "Cardiomyopathy, familial hypertrophic, 17" ], "gold_answer": "Abnormal left ventricle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02023", "question": "What is associated with Abnormality of adrenal physiology?", "seeds": [ "Abnormality of adrenal physiology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02024", "question": "What is associated with Abnormal bronchoalveolar lavage fluid morphology?", "seeds": [ "Abnormal bronchoalveolar lavage fluid morphology" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02025", "question": "What is associated with Colorectal cancer, susceptibility to, 3?", "seeds": [ "Colorectal cancer, susceptibility to, 3" ], "gold_answer": "Neoplasm of the colon", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02026", "question": "What phenotype is associated with Duplication of urethra?", "seeds": [ "Duplication of urethra" ], "gold_answer": "Urethral valve", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02027", "question": "What is associated with Abnormal cranial nerve physiology?", "seeds": [ "Abnormal cranial nerve physiology" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02028", "question": "What is associated with Reduced hepatic glyoxylate reductase activity?", "seeds": [ "Reduced hepatic glyoxylate reductase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02029", "question": "What is associated with Retinal cone dystrophy 1?", "seeds": [ "Retinal cone dystrophy 1" ], "gold_answer": "Sensory hypersensitivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02030", "question": "What is associated with Optic disc drusen?", "seeds": [ "Optic disc drusen" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02031", "question": "What is associated with Facial wrinkling?", "seeds": [ "Facial wrinkling" ], "gold_answer": "Prematurely aged appearance", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02032", "question": "What is associated with Type II pneumocyte hyperplasia?", "seeds": [ "Type II pneumocyte hyperplasia" ], "gold_answer": "Abnormal pulmonary alveolar system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02033", "question": "What is associated with Fragmentation of the epiphysis of the middle phalanx of the 4th finger?", "seeds": [ "Fragmentation of the epiphysis of the middle phalanx of the 4th finger" ], "gold_answer": "Abnormal epiphysis morphology of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02034", "question": "What is associated with Increased aromatic amino acid level in urine?", "seeds": [ "Increased aromatic amino acid level in urine" ], "gold_answer": "Abnormal urine amino acid level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02035", "question": "What is associated with Osteomalacia?", "seeds": [ "Osteomalacia" ], "gold_answer": "Abnormality of bone mineral density", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02036", "question": "What is associated with Lateral spinal meningocele?", "seeds": [ "Lateral spinal meningocele" ], "gold_answer": "Abnormal meningeal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02037", "question": "What phenotype is associated with Alzheimer disease 5?", "seeds": [ "Alzheimer disease 5" ], "gold_answer": "Alzheimer disease", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02038", "question": "What is associated with Decreased fucosylation of O-linked protein glycosylation?", "seeds": [ "Decreased fucosylation of O-linked protein glycosylation" ], "gold_answer": "Abnormal protein O-linked glycosylation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02039", "question": "What is associated with Positive mumps virus PCR test in the blood circulation?", "seeds": [ "Positive mumps virus PCR test in the blood circulation" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02040", "question": "What is associated with Hypocalcification of dental enamel?", "seeds": [ "Hypocalcification of dental enamel" ], "gold_answer": "Enamel hypomineralization", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02041", "question": "What is associated with NMDA receptor encephalitis?", "seeds": [ "NMDA receptor encephalitis" ], "gold_answer": "Maladaptive fear-related cognitions", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02042", "question": "What phenotype is associated with XYLT1-CDG?", "seeds": [ "XYLT1-CDG" ], "gold_answer": "Short long bone", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02043", "question": "What is associated with Non-spinning vertigo?", "seeds": [ "Non-spinning vertigo" ], "gold_answer": "Abnormal vestibular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02044", "question": "What is associated with Atresia of the Eustachian tube?", "seeds": [ "Atresia of the Eustachian tube" ], "gold_answer": "Abnormality of the middle ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02045", "question": "What phenotype is associated with Limb-Mammary syndrome?", "seeds": [ "Limb-Mammary syndrome" ], "gold_answer": "Cleft lip", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02046", "question": "What is associated with Thumb, distal hyperextensibility of?", "seeds": [ "Thumb, distal hyperextensibility of" ], "gold_answer": "Small joint hypermobilty", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02047", "question": "What is associated with Abnormal ductus choledochus morphology?", "seeds": [ "Abnormal ductus choledochus morphology" ], "gold_answer": "Biliary tract abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02048", "question": "What is associated with Retinitis pigmentosa 10?", "seeds": [ "Retinitis pigmentosa 10" ], "gold_answer": "Retinal degeneration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02049", "question": "What is associated with Breast hypoplasia?", "seeds": [ "Breast hypoplasia" ], "gold_answer": "Aplasia/Hypoplasia of the breasts", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02050", "question": "What is associated with Juvenile sialidosis type 2?", "seeds": [ "Juvenile sialidosis type 2" ], "gold_answer": "Functional abnormality of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02051", "question": "What is associated with Absent epiphyses of the toes?", "seeds": [ "Absent epiphyses of the toes" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02052", "question": "What is associated with Increased radioactive iodine uptake?", "seeds": [ "Increased radioactive iodine uptake" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02053", "question": "What is associated with Focal impaired awareness sensory seizure with hot-cold sensations?", "seeds": [ "Focal impaired awareness sensory seizure with hot-cold sensations" ], "gold_answer": "Focal impaired awareness non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02054", "question": "What is associated with Dacryocystitis?", "seeds": [ "Dacryocystitis" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02055", "question": "What is associated with Infantile encephalopathy?", "seeds": [ "Infantile encephalopathy" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02056", "question": "What phenotype is associated with Bardet-Biedl syndrome 20?", "seeds": [ "Bardet-Biedl syndrome 20" ], "gold_answer": "Nyctalopia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02057", "question": "What is associated with Focal cortical dysplasia?", "seeds": [ "Focal cortical dysplasia" ], "gold_answer": "Cortical dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02058", "question": "What is associated with Albinism, oculocutaneous, type IA?", "seeds": [ "Albinism, oculocutaneous, type IA" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02059", "question": "What is associated with Humeral exostoses?", "seeds": [ "Humeral exostoses" ], "gold_answer": "Neoplasm of the skeletal system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02060", "question": "What is associated with Joint hemorrhage?", "seeds": [ "Joint hemorrhage" ], "gold_answer": "Internal hemorrhage", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02061", "question": "What is associated with Congenital tricuspid valve dysplasia?", "seeds": [ "Congenital tricuspid valve dysplasia" ], "gold_answer": "Atrioventricular valve regurgitation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02062", "question": "What is associated with Stippling of the epiphysis of the 1st metatarsal?", "seeds": [ "Stippling of the epiphysis of the 1st metatarsal" ], "gold_answer": "Abnormal hallux morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02063", "question": "What phenotype is associated with Vascular hyalinosis?", "seeds": [ "Vascular hyalinosis" ], "gold_answer": "Premature graying of hair", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02064", "question": "What phenotype is associated with Pseudotrisomy 13 syndrome?", "seeds": [ "Pseudotrisomy 13 syndrome" ], "gold_answer": "Optic atrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02065", "question": "What is associated with Decreased circulating ADAMTS13 activity?", "seeds": [ "Decreased circulating ADAMTS13 activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02066", "question": "What is associated with Partial abdominal muscle agenesis?", "seeds": [ "Partial abdominal muscle agenesis" ], "gold_answer": "Abnormal abdominal wall morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02067", "question": "What is associated with Absent epiphysis of the 1st metacarpal?", "seeds": [ "Absent epiphysis of the 1st metacarpal" ], "gold_answer": "Abnormal 1st metacarpal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02068", "question": "What is associated with Abnormal peripheral nervous system physiology?", "seeds": [ "Abnormal peripheral nervous system physiology" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02069", "question": "What is associated with Li-Fraumeni syndrome?", "seeds": [ "Li-Fraumeni syndrome" ], "gold_answer": "TRIP13", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_dev_02070", "question": "What is associated with WAGR syndrome?", "seeds": [ "WAGR syndrome" ], "gold_answer": "Abnormality iris morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02071", "question": "What phenotype is associated with Deafness, autosomal dominant nonsyndromic sensorineural 13?", "seeds": [ "Deafness, autosomal dominant nonsyndromic sensorineural 13" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02072", "question": "What is associated with Dilatation of the renal pelvis?", "seeds": [ "Dilatation of the renal pelvis" ], "gold_answer": "Abnormal renal pelvis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02073", "question": "What is associated with Hereditary myopathy with early respiratory failure?", "seeds": [ "Hereditary myopathy with early respiratory failure" ], "gold_answer": "Abnormality of joint mobility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02074", "question": "What is associated with Hereditary thrombophilia due to congenital antithrombin deficiency?", "seeds": [ "Hereditary thrombophilia due to congenital antithrombin deficiency" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02075", "question": "What is associated with Glycogen storage disease type IXb?", "seeds": [ "Glycogen storage disease type IXb" ], "gold_answer": "Abnormal hepatic glycogen storage", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02076", "question": "What is associated with Myopathy, congenital, with tremor?", "seeds": [ "Myopathy, congenital, with tremor" ], "gold_answer": "Abnormality of the shoulder girdle musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02077", "question": "What is associated with Aplasia/Hypoplasia of the distal phalanx of the 4th toe?", "seeds": [ "Aplasia/Hypoplasia of the distal phalanx of the 4th toe" ], "gold_answer": "Aplasia/Hypoplasia of the distal phalanges of the toes", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02078", "question": "What is associated with Abnormal insertion of umbilical cord?", "seeds": [ "Abnormal insertion of umbilical cord" ], "gold_answer": "Abnormalities of placenta or umbilical cord", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02079", "question": "What is associated with Limited head rotation?", "seeds": [ "Limited head rotation" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02080", "question": "What is associated with Abnormal foveal morphology?", "seeds": [ "Abnormal foveal morphology" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02081", "question": "What is associated with Exotropia?", "seeds": [ "Exotropia" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02082", "question": "What is associated with Chronic infection?", "seeds": [ "Chronic infection" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02083", "question": "What phenotype is associated with Intellectual developmental disorder, X-linked 92?", "seeds": [ "Intellectual developmental disorder, X-linked 92" ], "gold_answer": "Decreased testicular size", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02084", "question": "What is associated with Anti-GM1 IgG antibody positivity?", "seeds": [ "Anti-GM1 IgG antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02085", "question": "What is associated with Lack of sufficient daily physical activity?", "seeds": [ "Lack of sufficient daily physical activity" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02086", "question": "What is associated with Abnormal spinal cord lateral corticospinal tract morphology?", "seeds": [ "Abnormal spinal cord lateral corticospinal tract morphology" ], "gold_answer": "Abnormal spinal cord morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02087", "question": "What is associated with Hallux symphalangism?", "seeds": [ "Hallux symphalangism" ], "gold_answer": "Toe phalanx synostosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02088", "question": "What is associated with Maternal virilization in pregnancy?", "seeds": [ "Maternal virilization in pregnancy" ], "gold_answer": "Past medical history", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02089", "question": "What is associated with Vulvar adenocarcinoma?", "seeds": [ "Vulvar adenocarcinoma" ], "gold_answer": "Female reproductive system neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02090", "question": "What phenotype is associated with Immunodeficiency 32A?", "seeds": [ "Immunodeficiency 32A" ], "gold_answer": "BCGitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02091", "question": "What is associated with Increased circulating renin concentration?", "seeds": [ "Increased circulating renin concentration" ], "gold_answer": "Abnormality of renin-angiotensin system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02092", "question": "What is associated with Patchy demyelination of subcortical white matter?", "seeds": [ "Patchy demyelination of subcortical white matter" ], "gold_answer": "Abnormal myelination", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02093", "question": "What is associated with Mesangial hypercellularity?", "seeds": [ "Mesangial hypercellularity" ], "gold_answer": "Abnormal glomerular mesangium morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02094", "question": "What phenotype is associated with Lethal congenital contracture syndrome 10?", "seeds": [ "Lethal congenital contracture syndrome 10" ], "gold_answer": "Polyhydramnios", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02095", "question": "What is associated with Congenital generalized lipodystrophy type 1?", "seeds": [ "Congenital generalized lipodystrophy type 1" ], "gold_answer": "AGPAT2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_02096", "question": "What is associated with Venous varicosities of celiac and mesenteric vessels?", "seeds": [ "Venous varicosities of celiac and mesenteric vessels" ], "gold_answer": "Abnormal venous morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02097", "question": "What is associated with Anterior wedging of L1?", "seeds": [ "Anterior wedging of L1" ], "gold_answer": "Abnormal vertebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02098", "question": "What phenotype is associated with Global developmental delay with or without impaired intellectual development?", "seeds": [ "Global developmental delay with or without impaired intellectual development" ], "gold_answer": "Hypospadias", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02099", "question": "What is associated with Abnormal sexual behavior?", "seeds": [ "Abnormal sexual behavior" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02100", "question": "What phenotype is associated with Waardenburg syndrome, type 4B?", "seeds": [ "Waardenburg syndrome, type 4B" ], "gold_answer": "Hypopigmented skin patches", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02101", "question": "What is associated with Curly eyelashes?", "seeds": [ "Curly eyelashes" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02102", "question": "What is associated with Charcot-Marie-Tooth disease, demyelinating, type 1A?", "seeds": [ "Charcot-Marie-Tooth disease, demyelinating, type 1A" ], "gold_answer": "Decreased nerve conduction velocity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02103", "question": "What is associated with Small trapezoid bone?", "seeds": [ "Small trapezoid bone" ], "gold_answer": "Abnormal carpal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02104", "question": "What is associated with Langer mesomelic dysplasia?", "seeds": [ "Langer mesomelic dysplasia" ], "gold_answer": "Broad forearm bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02105", "question": "What is associated with Irregular epiphysis of the distal phalanx of the 3rd toe?", "seeds": [ "Irregular epiphysis of the distal phalanx of the 3rd toe" ], "gold_answer": "Abnormality of the epiphyses of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02106", "question": "What is associated with Diffuse cerebral atrophy?", "seeds": [ "Diffuse cerebral atrophy" ], "gold_answer": "Atrophy/Degeneration affecting the cerebrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02107", "question": "What is associated with Chronic lymphatic leukemia?", "seeds": [ "Chronic lymphatic leukemia" ], "gold_answer": "Abnormal leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02108", "question": "What is associated with Limbal dermoid?", "seeds": [ "Limbal dermoid" ], "gold_answer": "Abnormal conjunctiva morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02109", "question": "What is associated with Graham Little-Piccardi-Lassueur syndrome?", "seeds": [ "Graham Little-Piccardi-Lassueur syndrome" ], "gold_answer": "Abnormal perifollicular morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02110", "question": "What is associated with Familial supernumerary nipples?", "seeds": [ "Familial supernumerary nipples" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02111", "question": "What is associated with Hemangioma of the lip?", "seeds": [ "Hemangioma of the lip" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02112", "question": "What is associated with Spontaneous pneumothorax?", "seeds": [ "Spontaneous pneumothorax" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02113", "question": "What phenotype is associated with Retinitis pigmentosa 23?", "seeds": [ "Retinitis pigmentosa 23" ], "gold_answer": "Posterior subcapsular cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02114", "question": "What is associated with Episodic quadriplegia?", "seeds": [ "Episodic quadriplegia" ], "gold_answer": "Tetraplegia/tetraparesis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02115", "question": "What is associated with Asymptomatic hyperammonemia?", "seeds": [ "Asymptomatic hyperammonemia" ], "gold_answer": "Azotemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02116", "question": "What is associated with Spinocerebellar ataxia 21?", "seeds": [ "Spinocerebellar ataxia 21" ], "gold_answer": "Tremor", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02117", "question": "What is associated with Holoprosencephaly-postaxial polydactyly syndrome?", "seeds": [ "Holoprosencephaly-postaxial polydactyly syndrome" ], "gold_answer": "Abnormality on pulmonary function testing", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02118", "question": "What is associated with Retroperitoneal mass?", "seeds": [ "Retroperitoneal mass" ], "gold_answer": "Abnormality of the digestive system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02119", "question": "What is associated with Increased CSF xylitol concentration?", "seeds": [ "Increased CSF xylitol concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02120", "question": "What is associated with Adult intestinal botulism?", "seeds": [ "Adult intestinal botulism" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02121", "question": "What is associated with Pulmonary nodular lymphoid hyperplasia?", "seeds": [ "Pulmonary nodular lymphoid hyperplasia" ], "gold_answer": "Abnormal lymphocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02122", "question": "What is associated with Cleft palate, cardiac defect, genital anomalies, and ectrodactyly?", "seeds": [ "Cleft palate, cardiac defect, genital anomalies, and ectrodactyly" ], "gold_answer": "Periauricular skin pits", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02123", "question": "What is associated with Elevated circulating CXCL9 concentration?", "seeds": [ "Elevated circulating CXCL9 concentration" ], "gold_answer": "Abnormal immune serum protein physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02124", "question": "What is associated with Limb hypertonia?", "seeds": [ "Limb hypertonia" ], "gold_answer": "Hypertonia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02125", "question": "What is associated with Aplasia of the olfactory tract?", "seeds": [ "Aplasia of the olfactory tract" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02126", "question": "What is associated with Progressive familial heart block, type IA?", "seeds": [ "Progressive familial heart block, type IA" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02127", "question": "What is associated with Sclerosis of the middle phalanx of the 2nd finger?", "seeds": [ "Sclerosis of the middle phalanx of the 2nd finger" ], "gold_answer": "Abnormal middle phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02128", "question": "What phenotype is associated with Ellis-Van creveld syndrome?", "seeds": [ "Ellis-Van creveld syndrome" ], "gold_answer": "Natal tooth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02129", "question": "What phenotype is associated with Immunodeficiency 31A?", "seeds": [ "Immunodeficiency 31A" ], "gold_answer": "Herpes simplex encephalitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02130", "question": "What phenotype is associated with Odonto-onycho dysplasia-alopecia syndrome?", "seeds": [ "Odonto-onycho dysplasia-alopecia syndrome" ], "gold_answer": "Tooth malposition", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02131", "question": "What phenotype is associated with Adult Refsum disease?", "seeds": [ "Adult Refsum disease" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02132", "question": "What is associated with Bullet-shaped phalanges of the hand?", "seeds": [ "Bullet-shaped phalanges of the hand" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02133", "question": "What phenotype is associated with Lichen amyloidosis?", "seeds": [ "Lichen amyloidosis" ], "gold_answer": "Pruritus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02134", "question": "What is associated with Focal impaired awareness verbal automatism seizure?", "seeds": [ "Focal impaired awareness verbal automatism seizure" ], "gold_answer": "Focal impaired awareness seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02135", "question": "What is associated with Nonprogressive?", "seeds": [ "Nonprogressive" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02136", "question": "What is associated with Abnormal communication?", "seeds": [ "Abnormal communication" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02137", "question": "What is associated with Germinal center B-lymphocyte BCL2 expression?", "seeds": [ "Germinal center B-lymphocyte BCL2 expression" ], "gold_answer": "Abnormal lymph-node cellular antigen expression", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02138", "question": "What is associated with Reduced muscle laminin alpha-2 chain staining?", "seeds": [ "Reduced muscle laminin alpha-2 chain staining" ], "gold_answer": "Abnormal muscle tissue enzyme activity or level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02139", "question": "What phenotype is associated with Isotretinoin syndrome?", "seeds": [ "Isotretinoin syndrome" ], "gold_answer": "Microtia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02140", "question": "What is associated with Skin rash?", "seeds": [ "Skin rash" ], "gold_answer": "Abnormal inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02141", "question": "What is associated with Gaze avoidance?", "seeds": [ "Gaze avoidance" ], "gold_answer": "Abnormal nonverbal communicative behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02142", "question": "What is associated with Tympanic membrane hypermobility?", "seeds": [ "Tympanic membrane hypermobility" ], "gold_answer": "Abnormality of the ear", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02143", "question": "What is associated with Vaginal hydrocele?", "seeds": [ "Vaginal hydrocele" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02144", "question": "What is associated with Phelan-McDermid syndrome?", "seeds": [ "Phelan-McDermid syndrome" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02145", "question": "What is associated with Spermatogenic failure 35?", "seeds": [ "Spermatogenic failure 35" ], "gold_answer": "Abnormal sperm morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02146", "question": "What phenotype is associated with Primary unilateral adrenal hyperplasia?", "seeds": [ "Primary unilateral adrenal hyperplasia" ], "gold_answer": "Tinnitus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02147", "question": "What is associated with Deafness, autosomal recessive 67?", "seeds": [ "Deafness, autosomal recessive 67" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02148", "question": "What is associated with Undetectable pattern electroretinogram?", "seeds": [ "Undetectable pattern electroretinogram" ], "gold_answer": "Abnormal visual electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02149", "question": "What is associated with Hemangioma of the lip?", "seeds": [ "Hemangioma of the lip" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02150", "question": "What is associated with Glomerular endothelial tubuloreticular inclusion?", "seeds": [ "Glomerular endothelial tubuloreticular inclusion" ], "gold_answer": "Abnormal glomerular capillary morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02151", "question": "What is associated with Membranoproliferative glomerulonephritis, X-linked?", "seeds": [ "Membranoproliferative glomerulonephritis, X-linked" ], "gold_answer": "Abnormality of connective tissue", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02152", "question": "What is associated with Perioral hyperkeratosis?", "seeds": [ "Perioral hyperkeratosis" ], "gold_answer": "Periorificial hyperkeratosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02153", "question": "What is associated with Downturned corners of mouth?", "seeds": [ "Downturned corners of mouth" ], "gold_answer": "Abnormal oral cavity morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02154", "question": "What is associated with Overgrowth-macrocephaly-facial dysmorphism syndrome?", "seeds": [ "Overgrowth-macrocephaly-facial dysmorphism syndrome" ], "gold_answer": "Abnormal ear physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02155", "question": "What is associated with Morbilliform?", "seeds": [ "Morbilliform" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02156", "question": "What is associated with Mandibular pain?", "seeds": [ "Mandibular pain" ], "gold_answer": "Abnormal mandible morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02157", "question": "What is associated with Abnormal visual field test?", "seeds": [ "Abnormal visual field test" ], "gold_answer": "Visual field defect", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02158", "question": "What is associated with Hypophenylalaninemia?", "seeds": [ "Hypophenylalaninemia" ], "gold_answer": "Abnormal circulating proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02159", "question": "What is associated with Overlapping toe?", "seeds": [ "Overlapping toe" ], "gold_answer": "Toe deformity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02160", "question": "What is associated with Absence seizure with eyelid myoclonia?", "seeds": [ "Absence seizure with eyelid myoclonia" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02161", "question": "What is associated with Pulp obliteration?", "seeds": [ "Pulp obliteration" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02162", "question": "What phenotype is associated with Jaberi-Elahi syndrome?", "seeds": [ "Jaberi-Elahi syndrome" ], "gold_answer": "Blindness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02163", "question": "What is associated with Absent cervical vertebra?", "seeds": [ "Absent cervical vertebra" ], "gold_answer": "Aplasia/Hypoplasia of the vertebrae", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02164", "question": "What is associated with Hypercystinemia?", "seeds": [ "Hypercystinemia" ], "gold_answer": "Abnormal circulating cysteine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02165", "question": "What is associated with Humerofemoral hypoplasia with radiotibial ray deficiency?", "seeds": [ "Humerofemoral hypoplasia with radiotibial ray deficiency" ], "gold_answer": "LONP1", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_dev_02166", "question": "What is associated with Transient decreased circulating IgG4?", "seeds": [ "Transient decreased circulating IgG4" ], "gold_answer": "Decreased circulating IgG subclass concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02167", "question": "What is associated with Congenital patella dislocation?", "seeds": [ "Congenital patella dislocation" ], "gold_answer": "Limb joint contracture", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02168", "question": "What phenotype is associated with Myopathy, congenital, progressive, with scoliosis?", "seeds": [ "Myopathy, congenital, progressive, with scoliosis" ], "gold_answer": "Dysphagia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02169", "question": "What is associated with Tibial bowing?", "seeds": [ "Tibial bowing" ], "gold_answer": "Abnormal diaphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02170", "question": "What is associated with Abnormal circulating fetuin A concentration?", "seeds": [ "Abnormal circulating fetuin A concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02171", "question": "What is associated with B-CELL CLL/LYMPHOMA 2?", "seeds": [ "B-CELL CLL/LYMPHOMA 2" ], "gold_answer": "Hematological neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02172", "question": "What is associated with Posterolateral diaphragmatic hernia?", "seeds": [ "Posterolateral diaphragmatic hernia" ], "gold_answer": "Congenital diaphragmatic hernia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02173", "question": "What is associated with Familial isolated hypoparathyroidism?", "seeds": [ "Familial isolated hypoparathyroidism" ], "gold_answer": "Abnormal basal ganglia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02174", "question": "What is associated with Hyperchloremic acidosis?", "seeds": [ "Hyperchloremic acidosis" ], "gold_answer": "Abnormality of acid-base homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02175", "question": "What is associated with Cortical subperiosteal resorption of humeral metaphyses?", "seeds": [ "Cortical subperiosteal resorption of humeral metaphyses" ], "gold_answer": "Abnormal humeral metaphysis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02176", "question": "What is associated with Reduced heme oxygenase activity?", "seeds": [ "Reduced heme oxygenase activity" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02177", "question": "What is associated with Agenesis of mandibular central incisor?", "seeds": [ "Agenesis of mandibular central incisor" ], "gold_answer": "Selective tooth agenesis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02178", "question": "What is associated with Cyclic neutropenia in myeloid maturation arrest in bone marrow?", "seeds": [ "Cyclic neutropenia in myeloid maturation arrest in bone marrow" ], "gold_answer": "Decreased total neutrophil count", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02179", "question": "What is associated with Anti-glycoprotein-210 antibody positivity?", "seeds": [ "Anti-glycoprotein-210 antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02180", "question": "What is associated with Abnormal Ishihara plate test?", "seeds": [ "Abnormal Ishihara plate test" ], "gold_answer": "Abnormality of vision", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02181", "question": "What phenotype is associated with Basaloid follicular hamartoma syndrome, generalized, autosomal dominant?", "seeds": [ "Basaloid follicular hamartoma syndrome, generalized, autosomal dominant" ], "gold_answer": "Comedo", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02182", "question": "What is associated with Hyperammonemia due to carbonic anhydrase VA deficiency?", "seeds": [ "Hyperammonemia due to carbonic anhydrase VA deficiency" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02183", "question": "What is associated with Difficulty descending stairs?", "seeds": [ "Difficulty descending stairs" ], "gold_answer": "Functional motor deficit", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02184", "question": "What is associated with Basilicata-Akhtar syndrome?", "seeds": [ "Basilicata-Akhtar syndrome" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02185", "question": "What is associated with Hyperprolinemia, type II?", "seeds": [ "Hyperprolinemia, type II" ], "gold_answer": "Abnormal circulating glutamine family amino acid concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02186", "question": "What phenotype is associated with VACTERL with hydrocephalus?", "seeds": [ "VACTERL with hydrocephalus" ], "gold_answer": "Weight loss", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02187", "question": "What is associated with Acute lymphoblastic leukemia?", "seeds": [ "Acute lymphoblastic leukemia" ], "gold_answer": "Leukemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02188", "question": "What is associated with Elevated urine 2-methylacetoacetic acid level?", "seeds": [ "Elevated urine 2-methylacetoacetic acid level" ], "gold_answer": "Organic aciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02189", "question": "What is associated with Abnormal basal ganglia morphology?", "seeds": [ "Abnormal basal ganglia morphology" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02190", "question": "What is associated with Hyperproteinemia?", "seeds": [ "Hyperproteinemia" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02191", "question": "What is associated with Acquired von Willebrand syndrome?", "seeds": [ "Acquired von Willebrand syndrome" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02192", "question": "What is associated with Recurrent enteroviral infections?", "seeds": [ "Recurrent enteroviral infections" ], "gold_answer": "Recurrent infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02193", "question": "What is associated with Lymph node abscess?", "seeds": [ "Lymph node abscess" ], "gold_answer": "Abnormality of the immune system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02194", "question": "What is associated with Minicore myopathy?", "seeds": [ "Minicore myopathy" ], "gold_answer": "Myopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02195", "question": "What is associated with Arteriovenous malformation of the lip?", "seeds": [ "Arteriovenous malformation of the lip" ], "gold_answer": "Vascular malformation of the lip", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02196", "question": "What is associated with Reduced liver carboxylesterase 1 activity?", "seeds": [ "Reduced liver carboxylesterase 1 activity" ], "gold_answer": "Abnormal tissue enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02197", "question": "What is associated with Telangiectases producing 'marbled' skin?", "seeds": [ "Telangiectases producing 'marbled' skin" ], "gold_answer": "Vascular skin abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02198", "question": "What is associated with Ameliorated by thiamine?", "seeds": [ "Ameliorated by thiamine" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02199", "question": "What is associated with Abnormal epidermis stratum granulosum morphology?", "seeds": [ "Abnormal epidermis stratum granulosum morphology" ], "gold_answer": "Abnormal epidermal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02200", "question": "What is associated with Focal segmental glomerulosclerosis 9?", "seeds": [ "Focal segmental glomerulosclerosis 9" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02201", "question": "What is associated with Abnormal nasal septum morphology?", "seeds": [ "Abnormal nasal septum morphology" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02202", "question": "What is associated with Wilson sign?", "seeds": [ "Wilson sign" ], "gold_answer": "Lower limb pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02203", "question": "What is associated with Vertebral artery calcification?", "seeds": [ "Vertebral artery calcification" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02204", "question": "What is associated with Decreased neutrophil phagocytosis?", "seeds": [ "Decreased neutrophil phagocytosis" ], "gold_answer": "Abnormal leukocyte physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02205", "question": "What phenotype is associated with Congenital disorder of glycosylation, type Icc?", "seeds": [ "Congenital disorder of glycosylation, type Icc" ], "gold_answer": "Type I transferrin isoform profile", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02206", "question": "What is associated with Iris flocculi?", "seeds": [ "Iris flocculi" ], "gold_answer": "Abnormal uvea morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02207", "question": "What is associated with Onychomycosis?", "seeds": [ "Onychomycosis" ], "gold_answer": "Unusual fungal infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02208", "question": "What is associated with Acute respiratory distress syndrome?", "seeds": [ "Acute respiratory distress syndrome" ], "gold_answer": "Respiratory failure requiring assisted ventilation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02209", "question": "What is associated with Periorbital purpura?", "seeds": [ "Periorbital purpura" ], "gold_answer": "Abnormality of the periorbital region", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02210", "question": "What phenotype is associated with Radial-Renal syndrome?", "seeds": [ "Radial-Renal syndrome" ], "gold_answer": "Abnormal pinna morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02211", "question": "What is associated with Thrombophilia due to deficiency of activated protein C cofactor?", "seeds": [ "Thrombophilia due to deficiency of activated protein C cofactor" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02212", "question": "What is associated with Abnormal pulmonary alveolar system morphology?", "seeds": [ "Abnormal pulmonary alveolar system morphology" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02213", "question": "What is associated with Increased circulating gonadotropin level?", "seeds": [ "Increased circulating gonadotropin level" ], "gold_answer": "Abnormality of the anterior pituitary", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02214", "question": "What is associated with Elevated circulating alpha-aminobutyric acid concentration?", "seeds": [ "Elevated circulating alpha-aminobutyric acid concentration" ], "gold_answer": "Abnormal circulating non-proteinogenic amino acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02215", "question": "What is associated with Abnormal circulating haptoglobin concentration?", "seeds": [ "Abnormal circulating haptoglobin concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02216", "question": "What is associated with Angulated humerus?", "seeds": [ "Angulated humerus" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02217", "question": "What is associated with Enlarged thalamic volume?", "seeds": [ "Enlarged thalamic volume" ], "gold_answer": "Abnormal thalamic size", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02218", "question": "What is associated with Mastalgia?", "seeds": [ "Mastalgia" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02219", "question": "What phenotype is associated with Allergic bronchopulmonary aspergillosis?", "seeds": [ "Allergic bronchopulmonary aspergillosis" ], "gold_answer": "Abnormal fingernail morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02220", "question": "What is associated with Expiratory crackles?", "seeds": [ "Expiratory crackles" ], "gold_answer": "Crackles", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02221", "question": "What is associated with Retinitis pigmentosa 85?", "seeds": [ "Retinitis pigmentosa 85" ], "gold_answer": "Nyctalopia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02222", "question": "What is associated with Acropectorovertebral dysplasia?", "seeds": [ "Acropectorovertebral dysplasia" ], "gold_answer": "Synostosis involving bones of the lower limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02223", "question": "What is associated with Abnormal palatine bone morphology?", "seeds": [ "Abnormal palatine bone morphology" ], "gold_answer": "Abnormal facial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02224", "question": "What is associated with Ataxia-telangiectasia-like disorder 2?", "seeds": [ "Ataxia-telangiectasia-like disorder 2" ], "gold_answer": "Abnormal conjunctiva morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02225", "question": "What phenotype is associated with Holoprosencephaly 5?", "seeds": [ "Holoprosencephaly 5" ], "gold_answer": "Trigonocephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02226", "question": "What is associated with Peroneal tendon tear?", "seeds": [ "Peroneal tendon tear" ], "gold_answer": "Abnormality of lower limb joint", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02227", "question": "What is associated with Anti-21-hydroxylase antibody positivity?", "seeds": [ "Anti-21-hydroxylase antibody positivity" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02228", "question": "What is associated with Decreased fetal movement?", "seeds": [ "Decreased fetal movement" ], "gold_answer": "Abnormal fetal physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02229", "question": "What is associated with Hyperlipidemia?", "seeds": [ "Hyperlipidemia" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02230", "question": "What is associated with Short stature, idiopathic familial?", "seeds": [ "Short stature, idiopathic familial" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02231", "question": "What is associated with Hypervigilance?", "seeds": [ "Hypervigilance" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02232", "question": "What is associated with Mitral opening snap?", "seeds": [ "Mitral opening snap" ], "gold_answer": "Abnormality of the cardiovascular system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02233", "question": "What is associated with CD38 expression?", "seeds": [ "CD38 expression" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02234", "question": "What is associated with Abnormal amniotic fluid protein concentration?", "seeds": [ "Abnormal amniotic fluid protein concentration" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02235", "question": "What is associated with Unossified vertebral bodies?", "seeds": [ "Unossified vertebral bodies" ], "gold_answer": "Abnormal enchondral ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02236", "question": "What is associated with EEC syndrome?", "seeds": [ "EEC syndrome" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02237", "question": "What is associated with Anti-human immunodeficiency virus antibody positivity?", "seeds": [ "Anti-human immunodeficiency virus antibody positivity" ], "gold_answer": "Bloodstream pathogen-specific antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02238", "question": "What is associated with Blebbing of apical cytoplasm of renal tubular epithelial cells?", "seeds": [ "Blebbing of apical cytoplasm of renal tubular epithelial cells" ], "gold_answer": "Abnormal nephron morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02239", "question": "What phenotype is associated with Cole disease?", "seeds": [ "Cole disease" ], "gold_answer": "Palmoplantar keratoderma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02240", "question": "What is associated with Basal cell carcinoma 7?", "seeds": [ "Basal cell carcinoma 7" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02241", "question": "What is associated with Abnormal hair quantity?", "seeds": [ "Abnormal hair quantity" ], "gold_answer": "Abnormal skin adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02242", "question": "What is associated with Leukocyte adhesion deficiency type III?", "seeds": [ "Leukocyte adhesion deficiency type III" ], "gold_answer": "FERMT3", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_dev_02243", "question": "What is associated with Abnormal leukocyte physiology?", "seeds": [ "Abnormal leukocyte physiology" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02244", "question": "What is associated with Increased urinary orosomucoid?", "seeds": [ "Increased urinary orosomucoid" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02245", "question": "What is associated with Muscle arteriovenous malformation?", "seeds": [ "Muscle arteriovenous malformation" ], "gold_answer": "Arteriovenous malformation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02246", "question": "What phenotype is associated with Arrhythmogenic right ventricular dysplasia, familial, 3?", "seeds": [ "Arrhythmogenic right ventricular dysplasia, familial, 3" ], "gold_answer": "T-wave inversion in the right precordial leads", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02247", "question": "What is associated with Abnormal superficial reflex?", "seeds": [ "Abnormal superficial reflex" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02248", "question": "What phenotype is associated with Meckel syndrome?", "seeds": [ "Meckel syndrome" ], "gold_answer": "Male pseudohermaphroditism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02249", "question": "What is associated with Scapulohumeral muscular dystrophy?", "seeds": [ "Scapulohumeral muscular dystrophy" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02250", "question": "What is associated with Prevertebral space enlargement?", "seeds": [ "Prevertebral space enlargement" ], "gold_answer": "Abnormal pharynx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02251", "question": "What is associated with Aortic aneurysm, familial thoracic 9?", "seeds": [ "Aortic aneurysm, familial thoracic 9" ], "gold_answer": "Supraventricular arrhythmia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02252", "question": "What is associated with Epiphyseal stippling of finger phalanges?", "seeds": [ "Epiphyseal stippling of finger phalanges" ], "gold_answer": "Epiphyseal stippling", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02253", "question": "What is associated with Attenuation of retinal blood vessels?", "seeds": [ "Attenuation of retinal blood vessels" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02254", "question": "What is associated with Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency?", "seeds": [ "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" ], "gold_answer": "Abnormality of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02255", "question": "What phenotype is associated with Noonan syndrome 12?", "seeds": [ "Noonan syndrome 12" ], "gold_answer": "Anteriorly placed anus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02256", "question": "What is associated with Stippling of the epiphysis of the distal phalanx of the 4th toe?", "seeds": [ "Stippling of the epiphysis of the distal phalanx of the 4th toe" ], "gold_answer": "Epiphyseal stippling of toe phalanges", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02257", "question": "What phenotype is associated with Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development?", "seeds": [ "Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development" ], "gold_answer": "Diffuse swelling of cerebral white matter", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02258", "question": "What is associated with Hematuria, benign familial?", "seeds": [ "Hematuria, benign familial" ], "gold_answer": "Abnormal glomerular basement membrane morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02259", "question": "What is associated with Cataract-microcornea syndrome?", "seeds": [ "Cataract-microcornea syndrome" ], "gold_answer": "CRYGD", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_02260", "question": "What phenotype is associated with Achondroplasia, severe, with developmental delay and acanthosis nigricans?", "seeds": [ "Achondroplasia, severe, with developmental delay and acanthosis nigricans" ], "gold_answer": "Gastroesophageal reflux", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02261", "question": "What is associated with Abnormality of peripheral nerve conduction?", "seeds": [ "Abnormality of peripheral nerve conduction" ], "gold_answer": "Abnormal nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02262", "question": "What is associated with Phacoanaphylactic uveitis?", "seeds": [ "Phacoanaphylactic uveitis" ], "gold_answer": "Abnormality of the vasculature of the eye", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02263", "question": "What is associated with Subaortic stenosis-short stature syndrome?", "seeds": [ "Subaortic stenosis-short stature syndrome" ], "gold_answer": "Single transverse palmar crease", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02264", "question": "What is associated with Anti-HLA antibody positivity?", "seeds": [ "Anti-HLA antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02265", "question": "What is associated with Abnormal localization of kidney?", "seeds": [ "Abnormal localization of kidney" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02266", "question": "What is associated with Elevated circulating decanoylcarnitine concentration?", "seeds": [ "Elevated circulating decanoylcarnitine concentration" ], "gold_answer": "Elevated circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02267", "question": "What is associated with Elevated CSF N-carbamyl-beta-alanine concentration?", "seeds": [ "Elevated CSF N-carbamyl-beta-alanine concentration" ], "gold_answer": "Morphological central nervous system abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02268", "question": "What is associated with Impaired renal tubular reabsorption of bicarbonate?", "seeds": [ "Impaired renal tubular reabsorption of bicarbonate" ], "gold_answer": "Abnormal renal physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02269", "question": "What is associated with Abnormal 4th finger morphology?", "seeds": [ "Abnormal 4th finger morphology" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02270", "question": "What phenotype is associated with Hypocalcemic vitamin D-dependent rickets?", "seeds": [ "Hypocalcemic vitamin D-dependent rickets" ], "gold_answer": "Splenomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02271", "question": "What is associated with Mild proteinuria?", "seeds": [ "Mild proteinuria" ], "gold_answer": "Proteinuria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02272", "question": "What is associated with Autophagia?", "seeds": [ "Autophagia" ], "gold_answer": "Self-biting", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02273", "question": "What is associated with Increased pulmonary vascular resistance?", "seeds": [ "Increased pulmonary vascular resistance" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02274", "question": "What is associated with Broad distal phalanx of the thumb?", "seeds": [ "Broad distal phalanx of the thumb" ], "gold_answer": "Broad phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02275", "question": "What is associated with Abnormal cry?", "seeds": [ "Abnormal cry" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02276", "question": "What is associated with Infantile neuroaxonal dystrophy?", "seeds": [ "Infantile neuroaxonal dystrophy" ], "gold_answer": "Excessive salivation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02277", "question": "What phenotype is associated with Leydig cell hypoplasia?", "seeds": [ "Leydig cell hypoplasia" ], "gold_answer": "Abnormality of the ovary", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02278", "question": "What phenotype is associated with Patella aplasia-hypoplasia?", "seeds": [ "Patella aplasia-hypoplasia" ], "gold_answer": "Patellar hypoplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02279", "question": "What is associated with Osteomalacia?", "seeds": [ "Osteomalacia" ], "gold_answer": "Abnormal bone ossification", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02280", "question": "What is associated with Lymphoma, hodgkin?", "seeds": [ "Lymphoma, hodgkin" ], "gold_answer": "Increased circulating immunoglobulin concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02281", "question": "What is associated with Leber hereditary optic neuropathy, autosomal recessive?", "seeds": [ "Leber hereditary optic neuropathy, autosomal recessive" ], "gold_answer": "Visual field defect", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02282", "question": "What phenotype is associated with SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6?", "seeds": [ "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02283", "question": "What phenotype is associated with Chronic atrial and intestinal dysrhythmia?", "seeds": [ "Chronic atrial and intestinal dysrhythmia" ], "gold_answer": "Sick sinus syndrome", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02284", "question": "What is associated with Increased laxity of fingers?", "seeds": [ "Increased laxity of fingers" ], "gold_answer": "Small joint hypermobilty", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02285", "question": "What is associated with Charcot-marie-tooth disease, type 4H?", "seeds": [ "Charcot-marie-tooth disease, type 4H" ], "gold_answer": "Abnormal reflex", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02286", "question": "What is associated with Infrequent social initiations?", "seeds": [ "Infrequent social initiations" ], "gold_answer": "Abnormal social development", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02287", "question": "What is associated with Neoplasm by anatomical site?", "seeds": [ "Neoplasm by anatomical site" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02288", "question": "What phenotype is associated with Camptodactyly syndrome, Guadalajara, type III?", "seeds": [ "Camptodactyly syndrome, Guadalajara, type III" ], "gold_answer": "Torticollis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02289", "question": "What is associated with Patchy sclerosis of the proximal phalanx of the 5th toe?", "seeds": [ "Patchy sclerosis of the proximal phalanx of the 5th toe" ], "gold_answer": "Sclerosis of toe phalanx", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02290", "question": "What is associated with Broad distal hallux?", "seeds": [ "Broad distal hallux" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02291", "question": "What is associated with Hypoplasia of first ribs?", "seeds": [ "Hypoplasia of first ribs" ], "gold_answer": "Aplasia/Hypoplasia of the ribs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02292", "question": "What phenotype is associated with Gallbladder disease 4?", "seeds": [ "Gallbladder disease 4" ], "gold_answer": "Cholelithiasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02293", "question": "What is associated with Ichthyosis, Bullous type?", "seeds": [ "Ichthyosis, Bullous type" ], "gold_answer": "Congenital ichthyosiform erythroderma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02294", "question": "What is associated with Inability to protrude lips?", "seeds": [ "Inability to protrude lips" ], "gold_answer": "Abnormality of facial musculature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02295", "question": "What is associated with Aural atresia, congenital?", "seeds": [ "Aural atresia, congenital" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02296", "question": "What is associated with Thought insertion?", "seeds": [ "Thought insertion" ], "gold_answer": "Disordered formal thought process", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02297", "question": "What is associated with Hyponatremia?", "seeds": [ "Hyponatremia" ], "gold_answer": "Abnormal blood cation concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02298", "question": "What is associated with Tetrasomy 15q26?", "seeds": [ "Tetrasomy 15q26" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02299", "question": "What is associated with Leopard syndrome 2?", "seeds": [ "Leopard syndrome 2" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02300", "question": "What is associated with Decreased HLA DR+ CD8+ T cell proportion?", "seeds": [ "Decreased HLA DR+ CD8+ T cell proportion" ], "gold_answer": "Abnormal T cell subset distribution", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02301", "question": "What is associated with Structural heart defects and renal anomalies syndrome?", "seeds": [ "Structural heart defects and renal anomalies syndrome" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02302", "question": "What phenotype is associated with Left ventricular noncompaction 10?", "seeds": [ "Left ventricular noncompaction 10" ], "gold_answer": "Congestive heart failure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02303", "question": "What is associated with Abnormal urinary organic compound level?", "seeds": [ "Abnormal urinary organic compound level" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02304", "question": "What phenotype is associated with Episodic ataxia, type 3?", "seeds": [ "Episodic ataxia, type 3" ], "gold_answer": "Episodic ataxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02305", "question": "What is associated with Endocardial fibroelastosis?", "seeds": [ "Endocardial fibroelastosis" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02306", "question": "What is associated with Decreased circulating glycerol level?", "seeds": [ "Decreased circulating glycerol level" ], "gold_answer": "Abnormal circulating glycerol level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02307", "question": "What is associated with Osteoporosis of vertebrae?", "seeds": [ "Osteoporosis of vertebrae" ], "gold_answer": "Localized osteoporosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02308", "question": "What is associated with Abnormal semicircular canal morphology?", "seeds": [ "Abnormal semicircular canal morphology" ], "gold_answer": "Abnormality of the inner ear", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02309", "question": "What is associated with Macular dystrophy, X-linked?", "seeds": [ "Macular dystrophy, X-linked" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02310", "question": "What is associated with Low-molecular-weight proteinuria?", "seeds": [ "Low-molecular-weight proteinuria" ], "gold_answer": "Abnormal urine metabolite level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02311", "question": "What phenotype is associated with Kennedy disease?", "seeds": [ "Kennedy disease" ], "gold_answer": "Gait disturbance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02312", "question": "What is associated with Pancreatic cancer, susceptibility to, 3?", "seeds": [ "Pancreatic cancer, susceptibility to, 3" ], "gold_answer": "Neoplasm of the pancreas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02313", "question": "What is associated with Abnormal limb bone morphology?", "seeds": [ "Abnormal limb bone morphology" ], "gold_answer": "Abnormal appendicular skeleton morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02314", "question": "What is associated with Pseudoepiphysis of the distal phalanx of the 3rd toe?", "seeds": [ "Pseudoepiphysis of the distal phalanx of the 3rd toe" ], "gold_answer": "Abnormal third toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02315", "question": "What is associated with Microcytic anemia?", "seeds": [ "Microcytic anemia" ], "gold_answer": "Anemia of inadequate production", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02316", "question": "What is associated with Increased CD8+ T cell proportion?", "seeds": [ "Increased CD8+ T cell proportion" ], "gold_answer": "Abnormal CD8+ T cell proportion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02317", "question": "What is associated with Infantile multisystem neurologic-endocrine-pancreatic disease?", "seeds": [ "Infantile multisystem neurologic-endocrine-pancreatic disease" ], "gold_answer": "Abnormal 2nd finger morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02318", "question": "What is associated with Micronodular cirrhosis?", "seeds": [ "Micronodular cirrhosis" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02319", "question": "What is associated with Echolalia?", "seeds": [ "Echolalia" ], "gold_answer": "Involuntary vocalization", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02320", "question": "What is associated with Multiple enchondromatosis?", "seeds": [ "Multiple enchondromatosis" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02321", "question": "What is associated with Hypopigmentation of hair?", "seeds": [ "Hypopigmentation of hair" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02322", "question": "What phenotype is associated with Prostate cancer, hereditary, 1?", "seeds": [ "Prostate cancer, hereditary, 1" ], "gold_answer": "Prostate cancer", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02323", "question": "What is associated with Phalangeal dislocation?", "seeds": [ "Phalangeal dislocation" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02324", "question": "What is associated with Increased sputum production?", "seeds": [ "Increased sputum production" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02325", "question": "What is associated with Subglottic stenosis?", "seeds": [ "Subglottic stenosis" ], "gold_answer": "Abnormality of the upper respiratory tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02326", "question": "What phenotype is associated with Spermatogenic failure 78?", "seeds": [ "Spermatogenic failure 78" ], "gold_answer": "Male infertility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02327", "question": "What phenotype is associated with Deafness, autosomal dominant nonsyndromic sensorineural 28?", "seeds": [ "Deafness, autosomal dominant nonsyndromic sensorineural 28" ], "gold_answer": "Sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02328", "question": "What is associated with Non-syndromic male infertility due to sperm motility disorder?", "seeds": [ "Non-syndromic male infertility due to sperm motility disorder" ], "gold_answer": "SPAG17", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_02329", "question": "What is associated with Abnormality of extrapyramidal motor function?", "seeds": [ "Abnormality of extrapyramidal motor function" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02330", "question": "What is associated with Blepharospasm, benign essential, susceptibility to?", "seeds": [ "Blepharospasm, benign essential, susceptibility to" ], "gold_answer": "Abnormal eyelid physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02331", "question": "What is associated with Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections?", "seeds": [ "Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections" ], "gold_answer": "Lymphoma", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02332", "question": "What is associated with Atypical behavior?", "seeds": [ "Atypical behavior" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02333", "question": "What phenotype is associated with Primary aldosteronism, seizures, and neurologic abnormalities?", "seeds": [ "Primary aldosteronism, seizures, and neurologic abnormalities" ], "gold_answer": "Cerebral visual impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02334", "question": "What phenotype is associated with Trisomy 13 syndrome?", "seeds": [ "Trisomy 13 syndrome" ], "gold_answer": "Capillary leak", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02335", "question": "What is associated with Hypoplasia of the prostate?", "seeds": [ "Hypoplasia of the prostate" ], "gold_answer": "Abnormal prostate morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02336", "question": "What is associated with Cardiomyopathy, dilated, 1I?", "seeds": [ "Cardiomyopathy, dilated, 1I" ], "gold_answer": "Abnormal left ventricular function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02337", "question": "What is associated with Adrenocortical adenoma?", "seeds": [ "Adrenocortical adenoma" ], "gold_answer": "Neoplasm of the adrenal gland", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02338", "question": "What is associated with Cuboidal metacarpal?", "seeds": [ "Cuboidal metacarpal" ], "gold_answer": "Short metacarpal", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02339", "question": "What is associated with Reduced forced vital capacity?", "seeds": [ "Reduced forced vital capacity" ], "gold_answer": "Abnormality on pulmonary function testing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02340", "question": "What is associated with Positive respiratory tract infectious agent test?", "seeds": [ "Positive respiratory tract infectious agent test" ], "gold_answer": "Positive infectious agent test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02341", "question": "What is associated with Irregular epiphysis of the distal phalanx of the 5th toe?", "seeds": [ "Irregular epiphysis of the distal phalanx of the 5th toe" ], "gold_answer": "Abnormality of the epiphyses of the 5th toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02342", "question": "What is associated with Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2?", "seeds": [ "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" ], "gold_answer": "Coronal craniosynostosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02343", "question": "What is associated with Smoldering systemic mastocytosis?", "seeds": [ "Smoldering systemic mastocytosis" ], "gold_answer": "KIT", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_dev_02344", "question": "What is associated with Focal impaired awareness cognitive seizure with left-right confusion?", "seeds": [ "Focal impaired awareness cognitive seizure with left-right confusion" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02345", "question": "What is associated with Immunodeficiency 50?", "seeds": [ "Immunodeficiency 50" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02346", "question": "What is associated with Upper airway obstruction?", "seeds": [ "Upper airway obstruction" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02347", "question": "What phenotype is associated with Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis?", "seeds": [ "Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis" ], "gold_answer": "Cyanosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02348", "question": "What is associated with Amelogenesis imperfecta, type IE?", "seeds": [ "Amelogenesis imperfecta, type IE" ], "gold_answer": "Abnormal dental root morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02349", "question": "What is associated with Smoker-inclusions in alveolar macrophages?", "seeds": [ "Smoker-inclusions in alveolar macrophages" ], "gold_answer": "Abnormal alveolar macrophage morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02350", "question": "What is associated with Nasal dryness?", "seeds": [ "Nasal dryness" ], "gold_answer": "Abnormal nasal mucosa morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02351", "question": "What is associated with Hypoplasia of facial musculature?", "seeds": [ "Hypoplasia of facial musculature" ], "gold_answer": "Abnormality of facial soft tissue", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02352", "question": "What phenotype is associated with Pterin-4 alpha-carbinolamine dehydratase deficiency?", "seeds": [ "Pterin-4 alpha-carbinolamine dehydratase deficiency" ], "gold_answer": "Tremor", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02353", "question": "What phenotype is associated with Split-Hand/foot malformation 2?", "seeds": [ "Split-Hand/foot malformation 2" ], "gold_answer": "Split foot", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02354", "question": "What is associated with Macular degeneration, age-related, 6?", "seeds": [ "Macular degeneration, age-related, 6" ], "gold_answer": "Retinal degeneration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02355", "question": "What is associated with Abnormal hard palate morphology?", "seeds": [ "Abnormal hard palate morphology" ], "gold_answer": "Abnormal palate morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02356", "question": "What is associated with Atrial fibrillation, familial, 18?", "seeds": [ "Atrial fibrillation, familial, 18" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02357", "question": "What is associated with Pinhole visual acuity 0.1 LogMAR?", "seeds": [ "Pinhole visual acuity 0.1 LogMAR" ], "gold_answer": "Reduced visual acuity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02358", "question": "What is associated with Normocytic hypoplastic anemia?", "seeds": [ "Normocytic hypoplastic anemia" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02359", "question": "What phenotype is associated with Polydactyly, postaxial, type A7?", "seeds": [ "Polydactyly, postaxial, type A7" ], "gold_answer": "Postaxial foot polydactyly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02360", "question": "What phenotype is associated with Cat-eye syndrome?", "seeds": [ "Cat-eye syndrome" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02361", "question": "What phenotype is associated with Cutis marmorata telangiectatica congenita?", "seeds": [ "Cutis marmorata telangiectatica congenita" ], "gold_answer": "Skin erosion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02362", "question": "What is associated with Proximally placed lunate?", "seeds": [ "Proximally placed lunate" ], "gold_answer": "Abnormal lunate bone morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02363", "question": "What is associated with Abnormal KCO?", "seeds": [ "Abnormal KCO" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02364", "question": "What is associated with Multifocal pattern dystrophy simulating fundus flavimaculatus?", "seeds": [ "Multifocal pattern dystrophy simulating fundus flavimaculatus" ], "gold_answer": "PRPH2", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_02365", "question": "What is associated with Leukocyte migration defect?", "seeds": [ "Leukocyte migration defect" ], "gold_answer": "Abnormal leukocyte physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02366", "question": "What is associated with Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome?", "seeds": [ "Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02367", "question": "What is associated with Sporadic adult-onset ataxia of unknown etiology?", "seeds": [ "Sporadic adult-onset ataxia of unknown etiology" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02368", "question": "What phenotype is associated with Lymphoma, hodgkin?", "seeds": [ "Lymphoma, hodgkin" ], "gold_answer": "Impaired lymphocyte transformation with phytohemagglutinin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02369", "question": "What is associated with Abnormal systemic arterial morphology?", "seeds": [ "Abnormal systemic arterial morphology" ], "gold_answer": "Abnormality of the vasculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02370", "question": "What is associated with Denervation of the diaphragm?", "seeds": [ "Denervation of the diaphragm" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02371", "question": "What is associated with Complete duplication of the distal phalanx of the 5th toe?", "seeds": [ "Complete duplication of the distal phalanx of the 5th toe" ], "gold_answer": "Duplication of the phalanges of the 5th toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02372", "question": "What is associated with Polycystic kidney disease 7?", "seeds": [ "Polycystic kidney disease 7" ], "gold_answer": "Increased blood pressure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02373", "question": "What phenotype is associated with Lethal congenital contracture syndrome 6?", "seeds": [ "Lethal congenital contracture syndrome 6" ], "gold_answer": "Decreased fetal movement", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02374", "question": "What is associated with Convergence excess esotropia?", "seeds": [ "Convergence excess esotropia" ], "gold_answer": "Esodeviation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02375", "question": "What is associated with Abnormal multifocal electroretinogram?", "seeds": [ "Abnormal multifocal electroretinogram" ], "gold_answer": "Abnormal electroretinogram", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02376", "question": "What phenotype is associated with Renal hypodysplasia/aplasia 3?", "seeds": [ "Renal hypodysplasia/aplasia 3" ], "gold_answer": "Recurrent urinary tract infections", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02377", "question": "What phenotype is associated with 3-methylglutaconic aciduria, type VIII?", "seeds": [ "3-methylglutaconic aciduria, type VIII" ], "gold_answer": "Apnea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02378", "question": "What is associated with Common arterial trunk with aortic dominance?", "seeds": [ "Common arterial trunk with aortic dominance" ], "gold_answer": "TBX1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_02379", "question": "What is associated with Micronodular cirrhosis?", "seeds": [ "Micronodular cirrhosis" ], "gold_answer": "Cirrhosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02380", "question": "What is associated with Anterior subcapsular cataract?", "seeds": [ "Anterior subcapsular cataract" ], "gold_answer": "Subcapsular cataract", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02381", "question": "What is associated with X-linked alpha-thalassemia-intellectual disability syndrome?", "seeds": [ "X-linked alpha-thalassemia-intellectual disability syndrome" ], "gold_answer": "Mortality/Aging", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02382", "question": "What phenotype is associated with Premature ovarian failure 8?", "seeds": [ "Premature ovarian failure 8" ], "gold_answer": "Elevated circulating follicle stimulating hormone level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02383", "question": "What is associated with Increased anti-fungi IgE antibody level?", "seeds": [ "Increased anti-fungi IgE antibody level" ], "gold_answer": "Abnormality of humoral immunity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02384", "question": "What is associated with Abnormal circulating insulin-like growth factor 3 concentration?", "seeds": [ "Abnormal circulating insulin-like growth factor 3 concentration" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02385", "question": "What is associated with Empty ovarian follicle?", "seeds": [ "Empty ovarian follicle" ], "gold_answer": "Abnormality of reproductive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02386", "question": "What is associated with Elevated circulating decanoylcarnitine concentration?", "seeds": [ "Elevated circulating decanoylcarnitine concentration" ], "gold_answer": "Abnormal circulating acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02387", "question": "What phenotype is associated with NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES?", "seeds": [ "NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02388", "question": "What is associated with Cutaneous leiomyosarcoma?", "seeds": [ "Cutaneous leiomyosarcoma" ], "gold_answer": "Soft tissue sarcoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02389", "question": "What is associated with Skin plaque?", "seeds": [ "Skin plaque" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02390", "question": "What phenotype is associated with Contractural arachnodactyly, congenital?", "seeds": [ "Contractural arachnodactyly, congenital" ], "gold_answer": "Scaphocephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02391", "question": "What is associated with Carcinoid syndrome?", "seeds": [ "Carcinoid syndrome" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02392", "question": "What is associated with Amaurosis-hypertrichosis syndrome?", "seeds": [ "Amaurosis-hypertrichosis syndrome" ], "gold_answer": "Abnormal eyebrow morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02393", "question": "What is associated with Sural nerve atrophy?", "seeds": [ "Sural nerve atrophy" ], "gold_answer": "Abnormal peripheral nerve morphology by anatomical site", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02394", "question": "What is associated with Ventricular preexcitation?", "seeds": [ "Ventricular preexcitation" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02395", "question": "What is associated with Enteric anendocrinosis?", "seeds": [ "Enteric anendocrinosis" ], "gold_answer": "Nausea and vomiting", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02396", "question": "What is associated with Congenital heart defects, multiple types, 9?", "seeds": [ "Congenital heart defects, multiple types, 9" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02397", "question": "What is associated with Abnormal spinal cord physiology?", "seeds": [ "Abnormal spinal cord physiology" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02398", "question": "What is associated with Decreased circulating glycerol level?", "seeds": [ "Decreased circulating glycerol level" ], "gold_answer": "Abnormal circulating carbohydrate concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02399", "question": "What phenotype is associated with Polymerase proofreading-related polyposis?", "seeds": [ "Polymerase proofreading-related polyposis" ], "gold_answer": "Breast carcinoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02400", "question": "What is associated with Adenomatous colonic polyposis?", "seeds": [ "Adenomatous colonic polyposis" ], "gold_answer": "Neoplasm of the gastrointestinal tract", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02401", "question": "What is associated with Post-vaccination yellow fever?", "seeds": [ "Post-vaccination yellow fever" ], "gold_answer": "Abnormality of immune system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02402", "question": "What is associated with Focal emotional seizure with paranoia?", "seeds": [ "Focal emotional seizure with paranoia" ], "gold_answer": "Focal non-motor seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02403", "question": "What phenotype is associated with Atelosteogenesis, type III?", "seeds": [ "Atelosteogenesis, type III" ], "gold_answer": "Frontal bossing", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02404", "question": "What is associated with Spastic paraplegia 9B, autosomal recessive?", "seeds": [ "Spastic paraplegia 9B, autosomal recessive" ], "gold_answer": "Abnormality of skull size", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02405", "question": "What is associated with Neuropathic arthropathy?", "seeds": [ "Neuropathic arthropathy" ], "gold_answer": "Abnormal skeletal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02406", "question": "What is associated with Focal impaired awareness cognitive seizure with dysgraphia/agraphia?", "seeds": [ "Focal impaired awareness cognitive seizure with dysgraphia/agraphia" ], "gold_answer": "Focal cognitive seizure", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02407", "question": "What is associated with Abnormal glucose-6-phosphate dehydrogenase level in blood?", "seeds": [ "Abnormal glucose-6-phosphate dehydrogenase level in blood" ], "gold_answer": "Abnormal circulating metabolite concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02408", "question": "What is associated with Stippling of the epiphysis of the proximal phalanx of the 4th toe?", "seeds": [ "Stippling of the epiphysis of the proximal phalanx of the 4th toe" ], "gold_answer": "Abnormality of the epiphysis of the proximal phalanx of the 4th toe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02409", "question": "What is associated with Wide anterior fontanel?", "seeds": [ "Wide anterior fontanel" ], "gold_answer": "Abnormal fontanelle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02410", "question": "What is associated with Increased urinary mucus?", "seeds": [ "Increased urinary mucus" ], "gold_answer": "Abnormal macroscopic urine appearance", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02411", "question": "What is associated with Syndromic multisystem autoimmune disease due to Itch deficiency?", "seeds": [ "Syndromic multisystem autoimmune disease due to Itch deficiency" ], "gold_answer": "Anti-thyroid antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02412", "question": "What is associated with Disciform macular scar?", "seeds": [ "Disciform macular scar" ], "gold_answer": "Retinal atrophy", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02413", "question": "What phenotype is associated with Trichoepithelioma, multiple familial, 1?", "seeds": [ "Trichoepithelioma, multiple familial, 1" ], "gold_answer": "Basal cell carcinoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02414", "question": "What is associated with Deficiency or absence of cytochrome b(-245)?", "seeds": [ "Deficiency or absence of cytochrome b(-245)" ], "gold_answer": "Abnormal cellular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02415", "question": "What is associated with Uniparental isodisomy?", "seeds": [ "Uniparental isodisomy" ], "gold_answer": "Inheritance qualifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02416", "question": "What is associated with Elevated serum-ascites albumin gradient (SAAG)?", "seeds": [ "Elevated serum-ascites albumin gradient (SAAG)" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02417", "question": "What is associated with Thrombocytopenia 10?", "seeds": [ "Thrombocytopenia 10" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02418", "question": "What is associated with Autosomal recessive cutis laxa type 2A?", "seeds": [ "Autosomal recessive cutis laxa type 2A" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02419", "question": "What is associated with Tessier number 11 facial cleft?", "seeds": [ "Tessier number 11 facial cleft" ], "gold_answer": "Orbital cleft", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02420", "question": "What is associated with Prominent interdigital folds?", "seeds": [ "Prominent interdigital folds" ], "gold_answer": "Abnormal palmar dermatoglyphics", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02421", "question": "What is associated with Small thumb epiphysis?", "seeds": [ "Small thumb epiphysis" ], "gold_answer": "Abnormal thumb morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02422", "question": "What is associated with Complete or near-complete absence of specific antibody response to tetanus vaccine?", "seeds": [ "Complete or near-complete absence of specific antibody response to tetanus vaccine" ], "gold_answer": "Decreased specific antibody response to protein vaccine", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02423", "question": "What is associated with Pugilistic facies?", "seeds": [ "Pugilistic facies" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02424", "question": "What is associated with Spastic paraplegia 53, autosomal recessive?", "seeds": [ "Spastic paraplegia 53, autosomal recessive" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02425", "question": "What phenotype is associated with Waardenburg syndrome type 3?", "seeds": [ "Waardenburg syndrome type 3" ], "gold_answer": "Tracheomalacia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02426", "question": "What is associated with Triangular nasal tip?", "seeds": [ "Triangular nasal tip" ], "gold_answer": "Abnormal external nose morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02427", "question": "What is associated with Frontometaphyseal dysplasia?", "seeds": [ "Frontometaphyseal dysplasia" ], "gold_answer": "Abnormal joint morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02428", "question": "What is associated with Generalized epilepsy with febrile seizures plus, type 12?", "seeds": [ "Generalized epilepsy with febrile seizures plus, type 12" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02429", "question": "What is associated with Accumulation of melanosomes in melanocytes?", "seeds": [ "Accumulation of melanosomes in melanocytes" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02430", "question": "What phenotype is associated with Autoimmune lymphoproliferative syndrome, type IIA?", "seeds": [ "Autoimmune lymphoproliferative syndrome, type IIA" ], "gold_answer": "Hepatomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02431", "question": "What is associated with Patchy sclerosis of the distal phalanx of the 2nd toe?", "seeds": [ "Patchy sclerosis of the distal phalanx of the 2nd toe" ], "gold_answer": "Abnormal 2nd toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02432", "question": "What is associated with Abnormal circulating globulin concentration?", "seeds": [ "Abnormal circulating globulin concentration" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02433", "question": "What is associated with Duplication of the distal phalanx of the 3rd toe?", "seeds": [ "Duplication of the distal phalanx of the 3rd toe" ], "gold_answer": "Abnormality of the phalanges of the 3rd toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02434", "question": "What is associated with Desmoid tumor?", "seeds": [ "Desmoid tumor" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02435", "question": "What is associated with Cone-rod dystrophy 7?", "seeds": [ "Cone-rod dystrophy 7" ], "gold_answer": "Abnormal eye physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02436", "question": "What is associated with Dermal translucency?", "seeds": [ "Dermal translucency" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02437", "question": "What is associated with Arteries, anomalies of?", "seeds": [ "Arteries, anomalies of" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02438", "question": "What is associated with Abnormal consumption behavior?", "seeds": [ "Abnormal consumption behavior" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02439", "question": "What is associated with Thymic-Renal-Anal-Lung dysplasia?", "seeds": [ "Thymic-Renal-Anal-Lung dysplasia" ], "gold_answer": "Abnormal ventricular septum morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02440", "question": "What is associated with Ethylmalonic aciduria?", "seeds": [ "Ethylmalonic aciduria" ], "gold_answer": "Abnormal urine carboxylic acid level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02441", "question": "What is associated with Angelman syndrome due to imprinting defect in 15q11-q13?", "seeds": [ "Angelman syndrome due to imprinting defect in 15q11-q13" ], "gold_answer": "Abnormality of mouth size", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02442", "question": "What is associated with Fibrosis of extraocular muscles, congenital, 1?", "seeds": [ "Fibrosis of extraocular muscles, congenital, 1" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02443", "question": "What is associated with Abnormal periventricular white matter morphology?", "seeds": [ "Abnormal periventricular white matter morphology" ], "gold_answer": "Leukoencephalopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02444", "question": "What is associated with Ovarian torsion?", "seeds": [ "Ovarian torsion" ], "gold_answer": "Abnormal ovarian morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02445", "question": "What is associated with Microscopic nephrocalcinosis?", "seeds": [ "Microscopic nephrocalcinosis" ], "gold_answer": "Nephrocalcinosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02446", "question": "What phenotype is associated with Cold agglutinin disease?", "seeds": [ "Cold agglutinin disease" ], "gold_answer": "Splenomegaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02447", "question": "What is associated with Supraclavicular lymphadenopathy?", "seeds": [ "Supraclavicular lymphadenopathy" ], "gold_answer": "Abnormal lymph node morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02448", "question": "What is associated with Reduced muscle fiber gamma sarcoglycan?", "seeds": [ "Reduced muscle fiber gamma sarcoglycan" ], "gold_answer": "Abnormal muscle fiber gamma sarcoglycan", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02449", "question": "What is associated with Meckel syndrome?", "seeds": [ "Meckel syndrome" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02450", "question": "What is associated with Conjugated hyperbilirubinemia?", "seeds": [ "Conjugated hyperbilirubinemia" ], "gold_answer": "Abnormal circulating bilirubin concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02451", "question": "What is associated with Deafness, autosomal recessive 102?", "seeds": [ "Deafness, autosomal recessive 102" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02452", "question": "What is associated with Focal?", "seeds": [ "Focal" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02453", "question": "What is associated with Thumb sign?", "seeds": [ "Thumb sign" ], "gold_answer": "Abnormal finger morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02454", "question": "What is associated with Liver abscess?", "seeds": [ "Liver abscess" ], "gold_answer": "Abscess", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02455", "question": "What is associated with Myopathy, autophagic vacuolar, infantile-onset?", "seeds": [ "Myopathy, autophagic vacuolar, infantile-onset" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02456", "question": "What is associated with Minicore myopathy?", "seeds": [ "Minicore myopathy" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02457", "question": "What is associated with Osteogenesis imperfecta?", "seeds": [ "Osteogenesis imperfecta" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02458", "question": "What is associated with Heterotaxy, visceral, 5?", "seeds": [ "Heterotaxy, visceral, 5" ], "gold_answer": "Abnormal cerebrospinal fluid morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02459", "question": "What is associated with Abnormal muscle fiber laminin beta 1?", "seeds": [ "Abnormal muscle fiber laminin beta 1" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02460", "question": "What is associated with Hirano bodies?", "seeds": [ "Hirano bodies" ], "gold_answer": "Cerebral inclusion bodies", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02461", "question": "What is associated with Pancreatic agenesis, congenital?", "seeds": [ "Pancreatic agenesis, congenital" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02462", "question": "What is associated with Multiflagellar spermatozoa?", "seeds": [ "Multiflagellar spermatozoa" ], "gold_answer": "Abnormal sperm morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02463", "question": "What phenotype is associated with Usher syndrome, type IIC?", "seeds": [ "Usher syndrome, type IIC" ], "gold_answer": "Rod-cone dystrophy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02464", "question": "What is associated with Factor XII deficiency?", "seeds": [ "Factor XII deficiency" ], "gold_answer": "Abnormality of coagulation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02465", "question": "What phenotype is associated with Immunodeficiency 115 with autoinflammation?", "seeds": [ "Immunodeficiency 115 with autoinflammation" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02466", "question": "What phenotype is associated with Cerebellar hemangioblastoma?", "seeds": [ "Cerebellar hemangioblastoma" ], "gold_answer": "Tongue muscle weakness", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02467", "question": "What phenotype is associated with Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome?", "seeds": [ "Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome" ], "gold_answer": "Mandibular prognathia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02468", "question": "What is associated with Combined hamartoma of the retina and retinal pigment epithelium?", "seeds": [ "Combined hamartoma of the retina and retinal pigment epithelium" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02469", "question": "What phenotype is associated with Mitral valve prolapse 1?", "seeds": [ "Mitral valve prolapse 1" ], "gold_answer": "Disproportionate tall stature", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02470", "question": "What is associated with Diminished integration of verbal and non-verbal communicative behavior?", "seeds": [ "Diminished integration of verbal and non-verbal communicative behavior" ], "gold_answer": "Abnormal communication", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02471", "question": "What is associated with Holoprosencephaly 7?", "seeds": [ "Holoprosencephaly 7" ], "gold_answer": "Abnormal nasal tip morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02472", "question": "What is associated with Flattened femoral head?", "seeds": [ "Flattened femoral head" ], "gold_answer": "Abnormal femur morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02473", "question": "What is associated with Antithrombin III deficiency?", "seeds": [ "Antithrombin III deficiency" ], "gold_answer": "Venous thrombosis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02474", "question": "What is associated with Distinctive finding?", "seeds": [ "Distinctive finding" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02475", "question": "What is associated with Empty sella turcica?", "seeds": [ "Empty sella turcica" ], "gold_answer": "Abnormal skull morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02476", "question": "What is associated with X-linked intellectual disability, Abidi type?", "seeds": [ "X-linked intellectual disability, Abidi type" ], "gold_answer": "Cleft lip", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02477", "question": "What is associated with Upper limb hypertonia?", "seeds": [ "Upper limb hypertonia" ], "gold_answer": "Hypertonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02478", "question": "What is associated with Fryns microphthalmia syndrome?", "seeds": [ "Fryns microphthalmia syndrome" ], "gold_answer": "Cleft upper lip", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02479", "question": "What is associated with Abnormal zygomatic arch morphology?", "seeds": [ "Abnormal zygomatic arch morphology" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02480", "question": "What is associated with Visceral hallucination?", "seeds": [ "Visceral hallucination" ], "gold_answer": "Hallucinations", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02481", "question": "What phenotype is associated with Seckel syndrome 4?", "seeds": [ "Seckel syndrome 4" ], "gold_answer": "Low-set ears", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02482", "question": "What is associated with Preretinal hemorrhage?", "seeds": [ "Preretinal hemorrhage" ], "gold_answer": "Abnormal posterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02483", "question": "What phenotype is associated with Neurodevelopmental disorder with or without variable brain abnormalities?", "seeds": [ "Neurodevelopmental disorder with or without variable brain abnormalities" ], "gold_answer": "Kyphosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02484", "question": "What is associated with Immunodeficiency 132B?", "seeds": [ "Immunodeficiency 132B" ], "gold_answer": "Antinuclear antibody positivity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02485", "question": "What phenotype is associated with Microphthalmia, syndromic 12?", "seeds": [ "Microphthalmia, syndromic 12" ], "gold_answer": "Cryptorchidism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02486", "question": "What is associated with Focal aware verbal automatism seizure?", "seeds": [ "Focal aware verbal automatism seizure" ], "gold_answer": "Focal motor seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02487", "question": "What is associated with X-linked adrenal hypoplasia congenita?", "seeds": [ "X-linked adrenal hypoplasia congenita" ], "gold_answer": "Abnormality of digestive system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02488", "question": "What is associated with Fetal alcohol exposure?", "seeds": [ "Fetal alcohol exposure" ], "gold_answer": "Fetal exposure history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02489", "question": "What phenotype is associated with Mietens syndrome?", "seeds": [ "Mietens syndrome" ], "gold_answer": "Corneal opacity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02490", "question": "What phenotype is associated with Hypothyroidism, congenital, nongoitrous, 9?", "seeds": [ "Hypothyroidism, congenital, nongoitrous, 9" ], "gold_answer": "Hypotonia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02491", "question": "What is associated with Enlarged brainstem?", "seeds": [ "Enlarged brainstem" ], "gold_answer": "Abnormal brain morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02492", "question": "What is associated with Transient?", "seeds": [ "Transient" ], "gold_answer": "Clinical course", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02493", "question": "What is associated with Dosage-Sensitive sex reversal?", "seeds": [ "Dosage-Sensitive sex reversal" ], "gold_answer": "Abnormal reproductive system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02494", "question": "What is associated with Triangular epiphysis of the proximal phalanx of the 4th toe?", "seeds": [ "Triangular epiphysis of the proximal phalanx of the 4th toe" ], "gold_answer": "Abnormal toe epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02495", "question": "What is associated with Abnormal renal collecting system morphology?", "seeds": [ "Abnormal renal collecting system morphology" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02496", "question": "What is associated with Prominent forehead?", "seeds": [ "Prominent forehead" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02497", "question": "What phenotype is associated with Hydrops, lactic acidosis, and sideroblastic anemia?", "seeds": [ "Hydrops, lactic acidosis, and sideroblastic anemia" ], "gold_answer": "Erythroid hyperplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02498", "question": "What is associated with Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies?", "seeds": [ "Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02499", "question": "What is associated with Mucolipidosis II alpha/beta?", "seeds": [ "Mucolipidosis II alpha/beta" ], "gold_answer": "Abnormal upper lip morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02500", "question": "What is associated with Neuronopathy, distal hereditary motor, autosomal dominant 15?", "seeds": [ "Neuronopathy, distal hereditary motor, autosomal dominant 15" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02501", "question": "What is associated with Klippel-Feil syndrome 1, autosomal dominant?", "seeds": [ "Klippel-Feil syndrome 1, autosomal dominant" ], "gold_answer": "Abnormality of the neck", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02502", "question": "What is associated with Antithrombin, familial hemorrhagic diathesis due to?", "seeds": [ "Antithrombin, familial hemorrhagic diathesis due to" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02503", "question": "What is associated with Self hugging?", "seeds": [ "Self hugging" ], "gold_answer": "Sensory behavioral abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02504", "question": "What phenotype is associated with Ectodermal dysplasia 5, Hair/nail type?", "seeds": [ "Ectodermal dysplasia 5, Hair/nail type" ], "gold_answer": "Sparse scalp hair", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02505", "question": "What is associated with Inflammatory bowel disease 29?", "seeds": [ "Inflammatory bowel disease 29" ], "gold_answer": "Gastrointestinal inflammation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02506", "question": "What is associated with Type 2 muscle fiber atrophy?", "seeds": [ "Type 2 muscle fiber atrophy" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02507", "question": "What is associated with Mesangial fibril deposition?", "seeds": [ "Mesangial fibril deposition" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02508", "question": "What is associated with Familial papillary or follicular thyroid carcinoma?", "seeds": [ "Familial papillary or follicular thyroid carcinoma" ], "gold_answer": "Abnormality of the thyroid gland", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02509", "question": "What phenotype is associated with Facial clefting, oblique, 1?", "seeds": [ "Facial clefting, oblique, 1" ], "gold_answer": "Talipes calcaneovalgus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02510", "question": "What is associated with Abnormality of skin pigmentation?", "seeds": [ "Abnormality of skin pigmentation" ], "gold_answer": "Abnormality of the skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02511", "question": "What is associated with Corneal dystrophy, posterior polymorphous, 3?", "seeds": [ "Corneal dystrophy, posterior polymorphous, 3" ], "gold_answer": "Abnormal Descemet membrane morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02512", "question": "What is associated with Serositis?", "seeds": [ "Serositis" ], "gold_answer": "Increased inflammatory response", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02513", "question": "What is associated with TMEM70-related mitochondrial encephalo-cardio-myopathy?", "seeds": [ "TMEM70-related mitochondrial encephalo-cardio-myopathy" ], "gold_answer": "Abnormal jaw morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02514", "question": "What is associated with Seborrheic keratosis?", "seeds": [ "Seborrheic keratosis" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02515", "question": "What is associated with Hepatoblastoma?", "seeds": [ "Hepatoblastoma" ], "gold_answer": "Digestive system neoplasm", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02516", "question": "What is associated with 1q21.1 microdeletion syndrome?", "seeds": [ "1q21.1 microdeletion syndrome" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02517", "question": "What is associated with Elevated serum 11-deoxycortisol?", "seeds": [ "Elevated serum 11-deoxycortisol" ], "gold_answer": "Increased circulating cortisol level", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02518", "question": "What is associated with Synophrys?", "seeds": [ "Synophrys" ], "gold_answer": "Abnormal ocular adnexa morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02519", "question": "What is associated with Peho-Like syndrome?", "seeds": [ "Peho-Like syndrome" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02520", "question": "What is associated with Brain abscess?", "seeds": [ "Brain abscess" ], "gold_answer": "Unusual CNS infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02521", "question": "What is associated with Type I radial ray deficiency?", "seeds": [ "Type I radial ray deficiency" ], "gold_answer": "Radial ray deficiency", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02522", "question": "What phenotype is associated with Dermal ridges, nelson syndrome?", "seeds": [ "Dermal ridges, nelson syndrome" ], "gold_answer": "Abnormal dermatoglyphics", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02523", "question": "What is associated with Hypotelorism?", "seeds": [ "Hypotelorism" ], "gold_answer": "Abnormality of globe location", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02524", "question": "What is associated with Diabetes mellitus, neonatal, with congenital hypothyroidism?", "seeds": [ "Diabetes mellitus, neonatal, with congenital hypothyroidism" ], "gold_answer": "Thin vermilion border", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02525", "question": "What is associated with Limited interphalangeal movement?", "seeds": [ "Limited interphalangeal movement" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02526", "question": "What is associated with Placental mesenchymal dysplasia?", "seeds": [ "Placental mesenchymal dysplasia" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02527", "question": "What is associated with Abnormal Langerhans cell morphology?", "seeds": [ "Abnormal Langerhans cell morphology" ], "gold_answer": "Abnormal cell morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02528", "question": "What is associated with Pseudoepiphysis of the middle phalanx of the 4th finger?", "seeds": [ "Pseudoepiphysis of the middle phalanx of the 4th finger" ], "gold_answer": "Pseudoepiphyses of the middle phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02529", "question": "What is associated with Aggravated by sun exposure?", "seeds": [ "Aggravated by sun exposure" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02530", "question": "What phenotype is associated with Osteopenia-intellectual disability-sparse hair syndrome?", "seeds": [ "Osteopenia-intellectual disability-sparse hair syndrome" ], "gold_answer": "Midface retrusion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02531", "question": "What is associated with Neuhauser syndrome?", "seeds": [ "Neuhauser syndrome" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02532", "question": "What is associated with Bloodstream microfilaria?", "seeds": [ "Bloodstream microfilaria" ], "gold_answer": "Bloodstream infectious agent", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02533", "question": "What phenotype is associated with Persistent hyperplastic primary vitreous?", "seeds": [ "Persistent hyperplastic primary vitreous" ], "gold_answer": "Leukocoria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02534", "question": "What is associated with Abnormality of the hypothenar eminence?", "seeds": [ "Abnormality of the hypothenar eminence" ], "gold_answer": "Abnormality of the musculature of the limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02535", "question": "What is associated with Ring chromosome 13 syndrome?", "seeds": [ "Ring chromosome 13 syndrome" ], "gold_answer": "Abnormality of the urethra", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02536", "question": "What is associated with Unaided visual acuity 0.9 LogMAR?", "seeds": [ "Unaided visual acuity 0.9 LogMAR" ], "gold_answer": "Visual acuity test abnormality", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02537", "question": "What is associated with Spinal cord tumor?", "seeds": [ "Spinal cord tumor" ], "gold_answer": "Neoplasm by anatomical site", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02538", "question": "What is associated with Intervertebral disk degeneration?", "seeds": [ "Intervertebral disk degeneration" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02539", "question": "What is associated with Factor XI deficiency?", "seeds": [ "Factor XI deficiency" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02540", "question": "What phenotype is associated with Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome?", "seeds": [ "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome" ], "gold_answer": "Muscle weakness", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02541", "question": "What is associated with Naxos disease?", "seeds": [ "Naxos disease" ], "gold_answer": "Abnormal EKG", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02542", "question": "What is associated with Testicular atrophy?", "seeds": [ "Testicular atrophy" ], "gold_answer": "Abnormal testis morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02543", "question": "What is associated with Syndromic multisystem autoimmune disease due to Itch deficiency?", "seeds": [ "Syndromic multisystem autoimmune disease due to Itch deficiency" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02544", "question": "What is associated with Reduced epidermal integrin alpha6beta4 protein expression?", "seeds": [ "Reduced epidermal integrin alpha6beta4 protein expression" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02545", "question": "What is associated with Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay?", "seeds": [ "Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02546", "question": "What is associated with Elevated circulating sCD163 concentration?", "seeds": [ "Elevated circulating sCD163 concentration" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02547", "question": "What is associated with Nasolacrimal sac obstruction?", "seeds": [ "Nasolacrimal sac obstruction" ], "gold_answer": "Abnormal nasolacrimal system morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02548", "question": "What is associated with Curved middle phalanx of toe?", "seeds": [ "Curved middle phalanx of toe" ], "gold_answer": "Abnormal toe phalanx morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02549", "question": "What is associated with Abnormal peripapillary microvascular network?", "seeds": [ "Abnormal peripapillary microvascular network" ], "gold_answer": "Abnormal optic nerve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02550", "question": "What is associated with Hemihypotrophy of lower limb?", "seeds": [ "Hemihypotrophy of lower limb" ], "gold_answer": "Aplasia/hypoplasia of the extremities", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02551", "question": "What is associated with Intellectual developmental disorder, X-linked 46?", "seeds": [ "Intellectual developmental disorder, X-linked 46" ], "gold_answer": "Hearing abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02552", "question": "What phenotype is associated with ALG11-CDG?", "seeds": [ "ALG11-CDG" ], "gold_answer": "Scoliosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02553", "question": "What is associated with Elevated 8-dehydrocholesterol?", "seeds": [ "Elevated 8-dehydrocholesterol" ], "gold_answer": "Abnormal circulating lipid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02554", "question": "What is associated with Intellectual disability-balding-patella luxation-acromicria syndrome?", "seeds": [ "Intellectual disability-balding-patella luxation-acromicria syndrome" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02555", "question": "What is associated with Eosinophilic infiltration of the esophagus?", "seeds": [ "Eosinophilic infiltration of the esophagus" ], "gold_answer": "Gastrointestinal eosinophilia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02556", "question": "What is associated with Urinary glycosaminoglycan excretion?", "seeds": [ "Urinary glycosaminoglycan excretion" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02557", "question": "What phenotype is associated with Beemer lethal malformation syndrome?", "seeds": [ "Beemer lethal malformation syndrome" ], "gold_answer": "Hydrocephalus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02558", "question": "What phenotype is associated with Diamond-Blackfan anemia 19?", "seeds": [ "Diamond-Blackfan anemia 19" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02559", "question": "What is associated with Decreased urine bicarbonate concentration?", "seeds": [ "Decreased urine bicarbonate concentration" ], "gold_answer": "Abnormal urinary organic compound level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02560", "question": "What is associated with Widely-spaced incisors?", "seeds": [ "Widely-spaced incisors" ], "gold_answer": "Abnormal spaced incisors", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02561", "question": "What is associated with Keratitis-ichthyosis-deafness syndrome?", "seeds": [ "Keratitis-ichthyosis-deafness syndrome" ], "gold_answer": "Sensory behavioral abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02562", "question": "What is associated with Dietary iron overload disease?", "seeds": [ "Dietary iron overload disease" ], "gold_answer": "Abnormality of circulating glucocorticoid level", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02563", "question": "What is associated with Fatty replacement of ventricular myocardial tissue?", "seeds": [ "Fatty replacement of ventricular myocardial tissue" ], "gold_answer": "Abnormal myocardium morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02564", "question": "What is associated with Telangiectasia of the oral mucosa?", "seeds": [ "Telangiectasia of the oral mucosa" ], "gold_answer": "Mucosal telangiectasiae", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02565", "question": "What is associated with Thumb hypoplasia grade 1?", "seeds": [ "Thumb hypoplasia grade 1" ], "gold_answer": "Short digit", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02566", "question": "What is associated with Elevated urine suberic acid level?", "seeds": [ "Elevated urine suberic acid level" ], "gold_answer": "Elevated urinary carboxylic acid", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02567", "question": "What is associated with Vasospasm?", "seeds": [ "Vasospasm" ], "gold_answer": "Abnormal arterial physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02568", "question": "What is associated with Aplasia/Hypoplasia of the nasal bone?", "seeds": [ "Aplasia/Hypoplasia of the nasal bone" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02569", "question": "What is associated with Progressive familial intrahepatic cholestasis type 2?", "seeds": [ "Progressive familial intrahepatic cholestasis type 2" ], "gold_answer": "ABCB11", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_dev_02570", "question": "What is associated with ABeta amyloidosis, Dutch type?", "seeds": [ "ABeta amyloidosis, Dutch type" ], "gold_answer": "Abnormal vascular morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02571", "question": "What is associated with Inferior oblique muscle overaction?", "seeds": [ "Inferior oblique muscle overaction" ], "gold_answer": "Abnormal inferior oblique muscle physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02572", "question": "What is associated with Hypothyroidism, congenital, nongoitrous, 2?", "seeds": [ "Hypothyroidism, congenital, nongoitrous, 2" ], "gold_answer": "Hoarse voice", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02573", "question": "What is associated with Retinoid exposure?", "seeds": [ "Retinoid exposure" ], "gold_answer": "Medication history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02574", "question": "What is associated with Intellectual developmental disorder, autosomal dominant 75?", "seeds": [ "Intellectual developmental disorder, autosomal dominant 75" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02575", "question": "What is associated with Increased adiponectin level?", "seeds": [ "Increased adiponectin level" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02576", "question": "What is associated with Hemobilia?", "seeds": [ "Hemobilia" ], "gold_answer": "Abnormal biliary tract physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02577", "question": "What is associated with Retroperitoneal mass?", "seeds": [ "Retroperitoneal mass" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02578", "question": "What phenotype is associated with Hypertelorism, microtia, facial clefting syndrome?", "seeds": [ "Hypertelorism, microtia, facial clefting syndrome" ], "gold_answer": "Abnormal facial shape", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02579", "question": "What is associated with Anti-isoleucyl tRNA-synthetase antibody positivity?", "seeds": [ "Anti-isoleucyl tRNA-synthetase antibody positivity" ], "gold_answer": "Anti-aminoacyl-tRNA synthetase antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02580", "question": "What is associated with Elevated urine fructose level?", "seeds": [ "Elevated urine fructose level" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02581", "question": "What is associated with Bracket epiphysis of the middle phalanx of the 5th finger?", "seeds": [ "Bracket epiphysis of the middle phalanx of the 5th finger" ], "gold_answer": "Abnormal middle phalanx morphology of the hand", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02582", "question": "What is associated with Elevated circulating deoxyuridine concentration?", "seeds": [ "Elevated circulating deoxyuridine concentration" ], "gold_answer": "Abnormal circulating nitrogen compound concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02583", "question": "What is associated with Abnormal femoral torsion?", "seeds": [ "Abnormal femoral torsion" ], "gold_answer": "Abnormal femur morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02584", "question": "What is associated with Hyperammonemia due to carbonic anhydrase VA deficiency?", "seeds": [ "Hyperammonemia due to carbonic anhydrase VA deficiency" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02585", "question": "What is associated with Anti-BP180 antibody positivity?", "seeds": [ "Anti-BP180 antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02586", "question": "What is associated with Glucose/galactose malabsorption?", "seeds": [ "Glucose/galactose malabsorption" ], "gold_answer": "Abnormal bowel sounds", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02587", "question": "What is associated with Partial absence of finger?", "seeds": [ "Partial absence of finger" ], "gold_answer": "Abnormal finger phalanx morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02588", "question": "What is associated with Migraine with or without aura, susceptibility to, 1?", "seeds": [ "Migraine with or without aura, susceptibility to, 1" ], "gold_answer": "Auditory hypersensitivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02589", "question": "What phenotype is associated with Fanconi renotubular syndrome 5?", "seeds": [ "Fanconi renotubular syndrome 5" ], "gold_answer": "Genu valgum", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02590", "question": "What phenotype is associated with Methylmalonic acidemia with homocystinuria, type cblC?", "seeds": [ "Methylmalonic acidemia with homocystinuria, type cblC" ], "gold_answer": "Abnormality of the urinary system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02591", "question": "What is associated with Deltoid muscle tear?", "seeds": [ "Deltoid muscle tear" ], "gold_answer": "Abnormality of the musculature of the upper limbs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02592", "question": "What is associated with Refractory status epilepticus?", "seeds": [ "Refractory status epilepticus" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02593", "question": "What phenotype is associated with Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type?", "seeds": [ "Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type" ], "gold_answer": "Severe infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02594", "question": "What is associated with Thalassemia-beta, dominant inclusion-body?", "seeds": [ "Thalassemia-beta, dominant inclusion-body" ], "gold_answer": "Abnormal liver morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02595", "question": "What is associated with Focal impaired awareness sensory seizure with vestibular features?", "seeds": [ "Focal impaired awareness sensory seizure with vestibular features" ], "gold_answer": "Focal impaired awareness seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02596", "question": "What is associated with Acute rhabdomyolysis?", "seeds": [ "Acute rhabdomyolysis" ], "gold_answer": "Abnormal skeletal muscle morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02597", "question": "What is associated with Hypoplasia of the femoral head?", "seeds": [ "Hypoplasia of the femoral head" ], "gold_answer": "Abnormal femoral head morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02598", "question": "What phenotype is associated with Optic atrophy 1?", "seeds": [ "Optic atrophy 1" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02599", "question": "What is associated with Neurodevelopmental disorder with spasticity and poor growth?", "seeds": [ "Neurodevelopmental disorder with spasticity and poor growth" ], "gold_answer": "Abnormal pyramidal sign", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02600", "question": "What is associated with Increased circulating ethanolamine concentration?", "seeds": [ "Increased circulating ethanolamine concentration" ], "gold_answer": "Abnormal circulating organic amino compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02601", "question": "What is associated with Elevated functional residual capacity?", "seeds": [ "Elevated functional residual capacity" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02602", "question": "What is associated with Ascending tubular aorta aneurysm?", "seeds": [ "Ascending tubular aorta aneurysm" ], "gold_answer": "Aortic aneurysm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02603", "question": "What is associated with Congenital kyphoscoliosis?", "seeds": [ "Congenital kyphoscoliosis" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02604", "question": "What is associated with Immotile sperm?", "seeds": [ "Immotile sperm" ], "gold_answer": "Reduced sperm motility", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02605", "question": "What is associated with Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome?", "seeds": [ "Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome" ], "gold_answer": "RFC4", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_loss_of_function_in" } }, { "query_id": "orph_dev_02606", "question": "What is associated with Decreased circulating plasmalogen concentration?", "seeds": [ "Decreased circulating plasmalogen concentration" ], "gold_answer": "Abnormal circulating lipid concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02607", "question": "What is associated with Abnormal subpleural morphology?", "seeds": [ "Abnormal subpleural morphology" ], "gold_answer": "Abnormality of the respiratory system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02608", "question": "What is associated with Alpha-methylacetoacetic aciduria?", "seeds": [ "Alpha-methylacetoacetic aciduria" ], "gold_answer": "Aminoaciduria", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02609", "question": "What is associated with Prognathism, mandibular?", "seeds": [ "Prognathism, mandibular" ], "gold_answer": "Abnormal calvaria morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02610", "question": "What is associated with Stippled calcification of the humeral epiphyses?", "seeds": [ "Stippled calcification of the humeral epiphyses" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02611", "question": "What is associated with Multilamellation of cortical peritubular capillary basement membranes?", "seeds": [ "Multilamellation of cortical peritubular capillary basement membranes" ], "gold_answer": "Abnormal peritubular capillary morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02612", "question": "What is associated with Hypodeviation?", "seeds": [ "Hypodeviation" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02613", "question": "What is associated with Abnormal chromosome morphology?", "seeds": [ "Abnormal chromosome morphology" ], "gold_answer": "Abnormal cell morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02614", "question": "What phenotype is associated with Urticaria, aquagenic?", "seeds": [ "Urticaria, aquagenic" ], "gold_answer": "Urticaria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02615", "question": "What is associated with Spontaneous chorioamniotic separation?", "seeds": [ "Spontaneous chorioamniotic separation" ], "gold_answer": "Abnormalities of placenta or umbilical cord", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02616", "question": "What is associated with Charcot-marie-tooth disease, axonal, type 2A2A?", "seeds": [ "Charcot-marie-tooth disease, axonal, type 2A2A" ], "gold_answer": "Abnormal superficial reflex", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02617", "question": "What is associated with Night blindness, congenital stationary, type 2A?", "seeds": [ "Night blindness, congenital stationary, type 2A" ], "gold_answer": "Strabismus", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02618", "question": "What is associated with Craniosynostosis, Philadelphia type?", "seeds": [ "Craniosynostosis, Philadelphia type" ], "gold_answer": "Abnormality of cranial sutures", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02619", "question": "What is associated with Night sweats?", "seeds": [ "Night sweats" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02620", "question": "What is associated with Increased naive CD4+ T cell proportion?", "seeds": [ "Increased naive CD4+ T cell proportion" ], "gold_answer": "Increased naive T cell proportion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02621", "question": "What phenotype is associated with Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia?", "seeds": [ "Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia" ], "gold_answer": "Motor stereotypy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02622", "question": "What is associated with Bilateral camptodactyly?", "seeds": [ "Bilateral camptodactyly" ], "gold_answer": "Flexion contracture of finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02623", "question": "What is associated with Robinow-Sorauf syndrome?", "seeds": [ "Robinow-Sorauf syndrome" ], "gold_answer": "Abnormal toe morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02624", "question": "What is associated with Increased naive CD8+ T cell proportion?", "seeds": [ "Increased naive CD8+ T cell proportion" ], "gold_answer": "Abnormal CD8+ T cell subset proportion", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02625", "question": "What is associated with Translamellar aortic medial fibrosis?", "seeds": [ "Translamellar aortic medial fibrosis" ], "gold_answer": "Aortic medial fibrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02626", "question": "What is associated with Supraventricular arrhythmia?", "seeds": [ "Supraventricular arrhythmia" ], "gold_answer": "Arrhythmia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02627", "question": "What is associated with Cervical spine instability?", "seeds": [ "Cervical spine instability" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02628", "question": "What is associated with Autoamputation of foot?", "seeds": [ "Autoamputation of foot" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02629", "question": "What phenotype is associated with Granular corneal dystrophy type I?", "seeds": [ "Granular corneal dystrophy type I" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02630", "question": "What is associated with Periumbilical?", "seeds": [ "Periumbilical" ], "gold_answer": "Spatial pattern", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02631", "question": "What phenotype is associated with Congenital disorder of glycosylation, type IIbb?", "seeds": [ "Congenital disorder of glycosylation, type IIbb" ], "gold_answer": "Absent speech", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02632", "question": "What is associated with Anomalous origin of the left common carotid artery from the main pulmonary artery?", "seeds": [ "Anomalous origin of the left common carotid artery from the main pulmonary artery" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02633", "question": "What is associated with Diminished MLH1 expression?", "seeds": [ "Diminished MLH1 expression" ], "gold_answer": "Biospecimen phenotypic feature", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02634", "question": "What is associated with Unilateral oligodactyly?", "seeds": [ "Unilateral oligodactyly" ], "gold_answer": "Aplasia/Hypoplasia of fingers", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02635", "question": "What is associated with Scrotal hyperpigmentation?", "seeds": [ "Scrotal hyperpigmentation" ], "gold_answer": "Abnormal male external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02636", "question": "What is associated with Freckling?", "seeds": [ "Freckling" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02637", "question": "What is associated with Renal arteriole medial hypertrophy?", "seeds": [ "Renal arteriole medial hypertrophy" ], "gold_answer": "Abnormal renal arteriole morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02638", "question": "What is associated with Intellectual disability-seizures-macrocephaly-obesity syndrome?", "seeds": [ "Intellectual disability-seizures-macrocephaly-obesity syndrome" ], "gold_answer": "Abnormal hair morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02639", "question": "What is associated with Focal impaired awareness perseverative automatism seizure?", "seeds": [ "Focal impaired awareness perseverative automatism seizure" ], "gold_answer": "Focal perseverative automatism seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02640", "question": "What phenotype is associated with Hemangioma-Thrombocytopenia syndrome?", "seeds": [ "Hemangioma-Thrombocytopenia syndrome" ], "gold_answer": "Hyperkalemia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02641", "question": "What is associated with Abnormal glomerular basement membrane morphology?", "seeds": [ "Abnormal glomerular basement membrane morphology" ], "gold_answer": "Abnormal renal cortex morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02642", "question": "What is associated with Cognitive epileptic aura?", "seeds": [ "Cognitive epileptic aura" ], "gold_answer": "Psychic epileptic aura", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02643", "question": "What is associated with Supernumerary naris?", "seeds": [ "Supernumerary naris" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02644", "question": "What is associated with Exacerbated by head trauma?", "seeds": [ "Exacerbated by head trauma" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02645", "question": "What is associated with Chronic pain?", "seeds": [ "Chronic pain" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02646", "question": "What is associated with Prolonged reptilase time?", "seeds": [ "Prolonged reptilase time" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02647", "question": "What is associated with RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic?", "seeds": [ "RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic" ], "gold_answer": "Unusual infection", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02648", "question": "What is associated with Reduced muscle telethonin level?", "seeds": [ "Reduced muscle telethonin level" ], "gold_answer": "Abnormal muscle fiber morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02649", "question": "What is associated with Renal hypodysplasia/aplasia 2?", "seeds": [ "Renal hypodysplasia/aplasia 2" ], "gold_answer": "Facial shape deformation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02650", "question": "What is associated with Abnormal circulating fatty-acid concentration?", "seeds": [ "Abnormal circulating fatty-acid concentration" ], "gold_answer": "Abnormal circulating organic compound concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02651", "question": "What is associated with Tapering pointed ends of distal finger phalanges?", "seeds": [ "Tapering pointed ends of distal finger phalanges" ], "gold_answer": "Abnormal distal phalanx morphology of finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02652", "question": "What is associated with Isolated epispadias?", "seeds": [ "Isolated epispadias" ], "gold_answer": "Abnormal female external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02653", "question": "What is associated with Glomerular endocapillary foam-cell hypercellularity?", "seeds": [ "Glomerular endocapillary foam-cell hypercellularity" ], "gold_answer": "Abnormal glomerular capillary morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02654", "question": "What is associated with Evans syndrome?", "seeds": [ "Evans syndrome" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02655", "question": "What is associated with Elevated circulating thyroid-stimulating hormone concentration?", "seeds": [ "Elevated circulating thyroid-stimulating hormone concentration" ], "gold_answer": "Abnormal circulating hormone concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02656", "question": "What phenotype is associated with Aniridia-absent patella syndrome?", "seeds": [ "Aniridia-absent patella syndrome" ], "gold_answer": "Anterior subcapsular cataract", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02657", "question": "What is associated with Heart block?", "seeds": [ "Heart block" ], "gold_answer": "Cardiac conduction abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02658", "question": "What phenotype is associated with Xq12-q13.3 duplication syndrome?", "seeds": [ "Xq12-q13.3 duplication syndrome" ], "gold_answer": "Cleft earlobe", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02659", "question": "What is associated with Frontotemporal cerebral atrophy?", "seeds": [ "Frontotemporal cerebral atrophy" ], "gold_answer": "Abnormal cerebral morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02660", "question": "What is associated with Chronic (near) absent circulating IgG1?", "seeds": [ "Chronic (near) absent circulating IgG1" ], "gold_answer": "Decreased circulating IgG subclass concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02661", "question": "What is associated with Hemorrhage of the eye?", "seeds": [ "Hemorrhage of the eye" ], "gold_answer": "Abnormal bleeding", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02662", "question": "What is associated with Multiple meningiomas?", "seeds": [ "Multiple meningiomas" ], "gold_answer": "Meningioma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02663", "question": "What is associated with Progressive cone dystrophy?", "seeds": [ "Progressive cone dystrophy" ], "gold_answer": "Abnormal visual electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02664", "question": "What is associated with King-Denborough syndrome?", "seeds": [ "King-Denborough syndrome" ], "gold_answer": "Abnormality of the philtrum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02665", "question": "What phenotype is associated with Platelet prostacyclin receptor defect?", "seeds": [ "Platelet prostacyclin receptor defect" ], "gold_answer": "Intermittent claudication", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02666", "question": "What is associated with Triggered by smoking?", "seeds": [ "Triggered by smoking" ], "gold_answer": "Triggered by", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02667", "question": "What is associated with Flat forehead?", "seeds": [ "Flat forehead" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02668", "question": "What is associated with Conical maxillary incisor?", "seeds": [ "Conical maxillary incisor" ], "gold_answer": "Abnormality of the incisor", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02669", "question": "What is associated with Recurrent lower respiratory tract infections?", "seeds": [ "Recurrent lower respiratory tract infections" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02670", "question": "What is associated with Machado-Joseph disease type 1?", "seeds": [ "Machado-Joseph disease type 1" ], "gold_answer": "Abnormality of the peripheral nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02671", "question": "What phenotype is associated with Nephronophthisis 12?", "seeds": [ "Nephronophthisis 12" ], "gold_answer": "Anemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02672", "question": "What is associated with Acroleukopathy, symmetric?", "seeds": [ "Acroleukopathy, symmetric" ], "gold_answer": "Abnormality of skin pigmentation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02673", "question": "What is associated with Dilatation of the mitral annulus?", "seeds": [ "Dilatation of the mitral annulus" ], "gold_answer": "Abnormal atrioventricular valve morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02674", "question": "What is associated with Beta-EEG?", "seeds": [ "Beta-EEG" ], "gold_answer": "Abnormality of central nervous system electrophysiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02675", "question": "What phenotype is associated with Diabetes, deafness, developmental delay, and short stature syndrome?", "seeds": [ "Diabetes, deafness, developmental delay, and short stature syndrome" ], "gold_answer": "Alopecia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02676", "question": "What is associated with Reduced leukocyte alpha-mannosidase activity?", "seeds": [ "Reduced leukocyte alpha-mannosidase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02677", "question": "What is associated with Proximal interphalangeal joint arthritis?", "seeds": [ "Proximal interphalangeal joint arthritis" ], "gold_answer": "Arthritis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02678", "question": "What is associated with Subsarcolemmal accumulations of abnormally shaped mitochondria?", "seeds": [ "Subsarcolemmal accumulations of abnormally shaped mitochondria" ], "gold_answer": "Muscle abnormality related to mitochondrial dysfunction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02679", "question": "What is associated with Podagra?", "seeds": [ "Podagra" ], "gold_answer": "Gout", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02680", "question": "What is associated with Plant based food allergy?", "seeds": [ "Plant based food allergy" ], "gold_answer": "Allergy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02681", "question": "What is associated with High serum osmolality?", "seeds": [ "High serum osmolality" ], "gold_answer": "Abnormal serum osmolality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02682", "question": "What is associated with D-2-hydroxyglutaric aciduria?", "seeds": [ "D-2-hydroxyglutaric aciduria" ], "gold_answer": "2-hydroxyglutarate aciduria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02683", "question": "What is associated with Vascular malformation of the lip?", "seeds": [ "Vascular malformation of the lip" ], "gold_answer": "Abnormal lip morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02684", "question": "What is associated with Fractured metatarsal bone of digit 1?", "seeds": [ "Fractured metatarsal bone of digit 1" ], "gold_answer": "Abnormality of the lower limb", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02685", "question": "What is associated with Surfactant metabolism dysfunction, pulmonary, 3?", "seeds": [ "Surfactant metabolism dysfunction, pulmonary, 3" ], "gold_answer": "Abnormal blood oxygen level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02686", "question": "What phenotype is associated with Neurodevelopmental disorder with seizures and speech and walking impairment?", "seeds": [ "Neurodevelopmental disorder with seizures and speech and walking impairment" ], "gold_answer": "Spasticity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02687", "question": "What is associated with Parasomnia, Sleepwalking type?", "seeds": [ "Parasomnia, Sleepwalking type" ], "gold_answer": "Parasomnia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02688", "question": "What is associated with Deviation of the thumb?", "seeds": [ "Deviation of the thumb" ], "gold_answer": "Deviation of the hand or of fingers of the hand", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02689", "question": "What is associated with Status epilepticus?", "seeds": [ "Status epilepticus" ], "gold_answer": "Seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02690", "question": "What phenotype is associated with Kohlschutter-Tonz syndrome?", "seeds": [ "Kohlschutter-Tonz syndrome" ], "gold_answer": "Ataxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02691", "question": "What is associated with Ossification anomalies-psychomotor developmental delay syndrome?", "seeds": [ "Ossification anomalies-psychomotor developmental delay syndrome" ], "gold_answer": "Abnormal limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02692", "question": "What is associated with Distal femoral metaphyseal irregularity?", "seeds": [ "Distal femoral metaphyseal irregularity" ], "gold_answer": "Metaphyseal irregularity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02693", "question": "What is associated with Consonant expressive impediment?", "seeds": [ "Consonant expressive impediment" ], "gold_answer": "Abnormality of the voice", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02694", "question": "What is associated with Pretesticular azoospermia?", "seeds": [ "Pretesticular azoospermia" ], "gold_answer": "Azoospermia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02695", "question": "What is associated with Prolonged central motor conduction time?", "seeds": [ "Prolonged central motor conduction time" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02696", "question": "What is associated with Extrahepatic biliary duct atresia?", "seeds": [ "Extrahepatic biliary duct atresia" ], "gold_answer": "Biliary atresia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02697", "question": "What phenotype is associated with Autosomal dominant spastic paraplegia type 38?", "seeds": [ "Autosomal dominant spastic paraplegia type 38" ], "gold_answer": "Spinal cord lesion", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02698", "question": "What is associated with Brainstem glioma?", "seeds": [ "Brainstem glioma" ], "gold_answer": "Abnormal nervous system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02699", "question": "What is associated with Monoclonal elevation of IgG lambda chain?", "seeds": [ "Monoclonal elevation of IgG lambda chain" ], "gold_answer": "Monoclonal elevation of IgG", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02700", "question": "What is associated with Scleral schwannoma?", "seeds": [ "Scleral schwannoma" ], "gold_answer": "Neoplasm of the peripheral nervous system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02701", "question": "What is associated with Distance exotropia?", "seeds": [ "Distance exotropia" ], "gold_answer": "Exotropia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02702", "question": "What phenotype is associated with Ondontochondrodysplasia 2 with hearing loss and diabetes?", "seeds": [ "Ondontochondrodysplasia 2 with hearing loss and diabetes" ], "gold_answer": "Premature loss of teeth", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02703", "question": "What is associated with Abnormal aortic valve physiology?", "seeds": [ "Abnormal aortic valve physiology" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02704", "question": "What is associated with Abnormality of pattern visual evoked potentials?", "seeds": [ "Abnormality of pattern visual evoked potentials" ], "gold_answer": "Abnormal visual electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02705", "question": "What is associated with Acral blistering?", "seeds": [ "Acral blistering" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02706", "question": "What is associated with Globus pallidus hypointensity on susceptibility-weighted imaging?", "seeds": [ "Globus pallidus hypointensity on susceptibility-weighted imaging" ], "gold_answer": "Abnormal globus pallidus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02707", "question": "What is associated with Diabetes insipidus?", "seeds": [ "Diabetes insipidus" ], "gold_answer": "Abnormality of the endocrine system", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02708", "question": "What is associated with Abnormal iris vasculature?", "seeds": [ "Abnormal iris vasculature" ], "gold_answer": "Abnormality of the vasculature of the eye", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02709", "question": "What is associated with Coarse humeral trabeculae?", "seeds": [ "Coarse humeral trabeculae" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02710", "question": "What is associated with Abnormal calf musculature morphology?", "seeds": [ "Abnormal calf musculature morphology" ], "gold_answer": "Abnormality of limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02711", "question": "What is associated with Decreased circulating alpha-mannosidase activity?", "seeds": [ "Decreased circulating alpha-mannosidase activity" ], "gold_answer": "Abnormal circulating alpha mannosidase activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02712", "question": "What is associated with Fractured phalanx?", "seeds": [ "Fractured phalanx" ], "gold_answer": "Long-bone fracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02713", "question": "What is associated with Axenfeld-Rieger syndrome?", "seeds": [ "Axenfeld-Rieger syndrome" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02714", "question": "What is associated with Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases?", "seeds": [ "Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases" ], "gold_answer": "Abnormality of the thenar eminence", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02715", "question": "What is associated with Reduced OCT-measured foveal thickness?", "seeds": [ "Reduced OCT-measured foveal thickness" ], "gold_answer": "Abnormal retinal morphology on macular OCT", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02716", "question": "What is associated with Temporal lobe dysplasia?", "seeds": [ "Temporal lobe dysplasia" ], "gold_answer": "Abnormal cerebral cortex morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02717", "question": "What is associated with Premature ventricular contraction?", "seeds": [ "Premature ventricular contraction" ], "gold_answer": "Ventricular arrhythmia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02718", "question": "What is associated with Charcot-Marie-Tooth disease, type 4D?", "seeds": [ "Charcot-Marie-Tooth disease, type 4D" ], "gold_answer": "Abnormal peripheral nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02719", "question": "What is associated with Lymph-node follicular lysis?", "seeds": [ "Lymph-node follicular lysis" ], "gold_answer": "Abnormal lymph-node follicle architecture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02720", "question": "What is associated with Pituitary spindle cell oncocytoma?", "seeds": [ "Pituitary spindle cell oncocytoma" ], "gold_answer": "Neoplasm of the anterior pituitary", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02721", "question": "What is associated with Anti-TRIM46 antibody?", "seeds": [ "Anti-TRIM46 antibody" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02722", "question": "What is associated with Anti-histidyl tRNA synthetase antibody positivity?", "seeds": [ "Anti-histidyl tRNA synthetase antibody positivity" ], "gold_answer": "Autoimmune antibody positivity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02723", "question": "What is associated with Mal de débarquement?", "seeds": [ "Mal de débarquement" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02724", "question": "What is associated with Erythroid hyperplasia?", "seeds": [ "Erythroid hyperplasia" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02725", "question": "What is associated with Against the rule astigmatism?", "seeds": [ "Against the rule astigmatism" ], "gold_answer": "Astigmatism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02726", "question": "What is associated with Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy?", "seeds": [ "Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy" ], "gold_answer": "Abnormality of renin-angiotensin system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02727", "question": "What phenotype is associated with Loeys-Dietz syndrome 3?", "seeds": [ "Loeys-Dietz syndrome 3" ], "gold_answer": "Osteopenia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02728", "question": "What is associated with Nephrotic range proteinuria?", "seeds": [ "Nephrotic range proteinuria" ], "gold_answer": "Abnormal urine protein level", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02729", "question": "What is associated with Overvalued idea?", "seeds": [ "Overvalued idea" ], "gold_answer": "Abnormal preoccupation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02730", "question": "What phenotype is associated with Short-Rib thoracic dysplasia 17 with or without polydactyly?", "seeds": [ "Short-Rib thoracic dysplasia 17 with or without polydactyly" ], "gold_answer": "Lateral clavicle hook", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02731", "question": "What is associated with Subcutaneous arteriolar thrombosis?", "seeds": [ "Subcutaneous arteriolar thrombosis" ], "gold_answer": "Abnormal thrombosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02732", "question": "What is associated with Branch retinal vein occlusion?", "seeds": [ "Branch retinal vein occlusion" ], "gold_answer": "Abnormality of the vasculature of the eye", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02733", "question": "What is associated with Epilepsy, idiopathic generalized, susceptibility to, 9?", "seeds": [ "Epilepsy, idiopathic generalized, susceptibility to, 9" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02734", "question": "What is associated with Abnormal peer relationships?", "seeds": [ "Abnormal peer relationships" ], "gold_answer": "Abnormal relationship", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02735", "question": "What phenotype is associated with Familial isolated café-au-lait macules?", "seeds": [ "Familial isolated café-au-lait macules" ], "gold_answer": "Multiple cafe-au-lait spots", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02736", "question": "What is associated with Abnormal paranasal sinus morphology?", "seeds": [ "Abnormal paranasal sinus morphology" ], "gold_answer": "Abnormal axial skeleton morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02737", "question": "What is associated with Blood group A?", "seeds": [ "Blood group A" ], "gold_answer": "ABO blood group", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02738", "question": "What is associated with Aplasia of distal finger phalanx?", "seeds": [ "Aplasia of distal finger phalanx" ], "gold_answer": "Aplasia of the phalanges of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02739", "question": "What is associated with Nasal ulcer?", "seeds": [ "Nasal ulcer" ], "gold_answer": "Abnormal nasal mucosa morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02740", "question": "What is associated with Abnormal placental membrane morphology?", "seeds": [ "Abnormal placental membrane morphology" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02741", "question": "What is associated with Fanconi anemia, complementation group J?", "seeds": [ "Fanconi anemia, complementation group J" ], "gold_answer": "Hypermelanotic macule", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02742", "question": "What is associated with Dull?", "seeds": [ "Dull" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02743", "question": "What is associated with Nasal secretion eosinophilia?", "seeds": [ "Nasal secretion eosinophilia" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02744", "question": "What is associated with Aplasia cutis congenita over posterior parietal area?", "seeds": [ "Aplasia cutis congenita over posterior parietal area" ], "gold_answer": "Aplasia cutis congenita of scalp", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02745", "question": "What is associated with Axial hypotonia?", "seeds": [ "Axial hypotonia" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02746", "question": "What phenotype is associated with Spinocerebellar ataxia 46?", "seeds": [ "Spinocerebellar ataxia 46" ], "gold_answer": "Nystagmus", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02747", "question": "What is associated with Bracket epiphyses of the distal phalanges of the hand?", "seeds": [ "Bracket epiphyses of the distal phalanges of the hand" ], "gold_answer": "Abnormality of the epiphyses of the distal phalanx of finger", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02748", "question": "What is associated with Left ventricular outflow tract obstruction?", "seeds": [ "Left ventricular outflow tract obstruction" ], "gold_answer": "Abnormal left ventricular function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02749", "question": "What is associated with Autosomal recessive spastic paraplegia type 46?", "seeds": [ "Autosomal recessive spastic paraplegia type 46" ], "gold_answer": "Abnormal peripheral nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02750", "question": "What phenotype is associated with Pituitary deficiency due to Rathke cleft cysts?", "seeds": [ "Pituitary deficiency due to Rathke cleft cysts" ], "gold_answer": "Abnormal kinetic perimetry test", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02751", "question": "What is associated with Spermatogenic failure 9?", "seeds": [ "Spermatogenic failure 9" ], "gold_answer": "Decreased fertility in males", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02752", "question": "What is associated with Aplasia/Hypoplasia of the diaphragm?", "seeds": [ "Aplasia/Hypoplasia of the diaphragm" ], "gold_answer": "Abnormality of the diaphragm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02753", "question": "What is associated with Iron overload, susceptibility to?", "seeds": [ "Iron overload, susceptibility to" ], "gold_answer": "Diabetes mellitus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02754", "question": "What is associated with Acute megakaryoblastic leukemia in children with Down syndrome?", "seeds": [ "Acute megakaryoblastic leukemia in children with Down syndrome" ], "gold_answer": "GATA1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_somatic_mutation_s_in" } }, { "query_id": "orph_dev_02755", "question": "What is associated with Abnormal toe epiphysis morphology?", "seeds": [ "Abnormal toe epiphysis morphology" ], "gold_answer": "Abnormal digit morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02756", "question": "What is associated with Weiss-Kruszka syndrome?", "seeds": [ "Weiss-Kruszka syndrome" ], "gold_answer": "Abnormality of the metopic suture", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02757", "question": "What is associated with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome?", "seeds": [ "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome" ], "gold_answer": "Abnormal cerebral white matter morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02758", "question": "What is associated with Delayed ability to walk?", "seeds": [ "Delayed ability to walk" ], "gold_answer": "Delayed gross motor development", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02759", "question": "What is associated with Popliteal synovial cyst?", "seeds": [ "Popliteal synovial cyst" ], "gold_answer": "Abnormal knee morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02760", "question": "What is associated with Brugada syndrome 9?", "seeds": [ "Brugada syndrome 9" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02761", "question": "What is associated with Nuchal cord?", "seeds": [ "Nuchal cord" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02762", "question": "What is associated with Impaired executive functioning?", "seeds": [ "Impaired executive functioning" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02763", "question": "What is associated with Telecanthus?", "seeds": [ "Telecanthus" ], "gold_answer": "Abnormal eyelid morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02764", "question": "What is associated with Abnormal putamen morphology?", "seeds": [ "Abnormal putamen morphology" ], "gold_answer": "Abnormal corpus striatum morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02765", "question": "What is associated with Shortened O-fucosylated glycan on properdin?", "seeds": [ "Shortened O-fucosylated glycan on properdin" ], "gold_answer": "Abnormal protein glycosylation", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02766", "question": "What phenotype is associated with Iga nephropathy, susceptibility to, 3?", "seeds": [ "Iga nephropathy, susceptibility to, 3" ], "gold_answer": "Hematuria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02767", "question": "What is associated with Dysmetric saccades?", "seeds": [ "Dysmetric saccades" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02768", "question": "What is associated with Microcephaly 14, primary, autosomal recessive?", "seeds": [ "Microcephaly 14, primary, autosomal recessive" ], "gold_answer": "Recurrent maladaptive behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02769", "question": "What is associated with Nystagmus, myoclonic?", "seeds": [ "Nystagmus, myoclonic" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02770", "question": "What is associated with Intellectual developmental disorder, X-linked syndromic 12?", "seeds": [ "Intellectual developmental disorder, X-linked syndromic 12" ], "gold_answer": "Abnormality of the chin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02771", "question": "What is associated with Clostridium difficile colitis?", "seeds": [ "Clostridium difficile colitis" ], "gold_answer": "Unusual gastrointestinal infection", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02772", "question": "What is associated with Delayed tibial epiphyseal ossification?", "seeds": [ "Delayed tibial epiphyseal ossification" ], "gold_answer": "Abnormal lower limb epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02773", "question": "What phenotype is associated with Pendred syndrome?", "seeds": [ "Pendred syndrome" ], "gold_answer": "Hypothyroidism", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02774", "question": "What is associated with Abnormal odontoid process morphology?", "seeds": [ "Abnormal odontoid process morphology" ], "gold_answer": "Abnormality of the vertebral column", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02775", "question": "What is associated with Fasciculations?", "seeds": [ "Fasciculations" ], "gold_answer": "Abnormal central motor function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02776", "question": "What is associated with Cerebellar ataxia, impaired intellectual development, and dysquilibrium syndrome 2?", "seeds": [ "Cerebellar ataxia, impaired intellectual development, and dysquilibrium syndrome 2" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02777", "question": "What phenotype is associated with Deafness, autosomal dominant 3B?", "seeds": [ "Deafness, autosomal dominant 3B" ], "gold_answer": "Adult onset sensorineural hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02778", "question": "What is associated with Charcot-Marie-Tooth disease, type 4B2?", "seeds": [ "Charcot-Marie-Tooth disease, type 4B2" ], "gold_answer": "Positional foot deformity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02779", "question": "What phenotype is associated with B-cell expansion with NFKB and T-cell anergy?", "seeds": [ "B-cell expansion with NFKB and T-cell anergy" ], "gold_answer": "Increased total B cell count", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02780", "question": "What is associated with Ataxia-telangiectasia-like disorder 1?", "seeds": [ "Ataxia-telangiectasia-like disorder 1" ], "gold_answer": "Horizontal nystagmus", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02781", "question": "What is associated with Epileptic encephalopathy, early infantile, 49?", "seeds": [ "Epileptic encephalopathy, early infantile, 49" ], "gold_answer": "Abnormal nasal morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02782", "question": "What is associated with Immediate detumescence of penis at time of symptom onset?", "seeds": [ "Immediate detumescence of penis at time of symptom onset" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02783", "question": "What is associated with Fractured scapula?", "seeds": [ "Fractured scapula" ], "gold_answer": "Bone fracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02784", "question": "What is associated with Congenital dyserythropoietic anemia type IV?", "seeds": [ "Congenital dyserythropoietic anemia type IV" ], "gold_answer": "KLF1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_02785", "question": "What is associated with Increased circulating creatine kinase BB isoform?", "seeds": [ "Increased circulating creatine kinase BB isoform" ], "gold_answer": "Abnormal circulating protein concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02786", "question": "What is associated with B-CELL MALIGNANCY, LOW-GRADE?", "seeds": [ "B-CELL MALIGNANCY, LOW-GRADE" ], "gold_answer": "Chronic leukemia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02787", "question": "What is associated with Onycholysis of fingernails?", "seeds": [ "Onycholysis of fingernails" ], "gold_answer": "Abnormal fingernail morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02788", "question": "What phenotype is associated with Leukoencephalopathy with dystonia and motor neuropathy?", "seeds": [ "Leukoencephalopathy with dystonia and motor neuropathy" ], "gold_answer": "Hearing impairment", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02789", "question": "What phenotype is associated with Lipoprotein glomerulopathy?", "seeds": [ "Lipoprotein glomerulopathy" ], "gold_answer": "Proteinuria", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02790", "question": "What phenotype is associated with Congenital factor XII deficiency?", "seeds": [ "Congenital factor XII deficiency" ], "gold_answer": "Abnormal bleeding", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02791", "question": "What is associated with Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmunehemolytic anemia, and glomerulonephritis?", "seeds": [ "Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmunehemolytic anemia, and glomerulonephritis" ], "gold_answer": "Abnormal renal glomerulus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02792", "question": "What is associated with Paraseptal?", "seeds": [ "Paraseptal" ], "gold_answer": "Position", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02793", "question": "What is associated with Airway obstruction?", "seeds": [ "Airway obstruction" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02794", "question": "What phenotype is associated with PHACE association?", "seeds": [ "PHACE association" ], "gold_answer": "Visual impairment", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02795", "question": "What phenotype is associated with Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome?", "seeds": [ "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome" ], "gold_answer": "Intestinal pseudo-obstruction", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02796", "question": "What phenotype is associated with Enteric anendocrinosis?", "seeds": [ "Enteric anendocrinosis" ], "gold_answer": "Abnormal cellular phenotype", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02797", "question": "What is associated with Epileptic encephalopathy, early infantile, 42?", "seeds": [ "Epileptic encephalopathy, early infantile, 42" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02798", "question": "What is associated with Advanced pneumatization of cranial sinuses?", "seeds": [ "Advanced pneumatization of cranial sinuses" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02799", "question": "What is associated with Cortical radial artery medial atrophy?", "seeds": [ "Cortical radial artery medial atrophy" ], "gold_answer": "Abnormal cortical radial artery intima/media morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02800", "question": "What is associated with Cholesterol crystalluria?", "seeds": [ "Cholesterol crystalluria" ], "gold_answer": "Abnormality of metabolism/homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02801", "question": "What is associated with Narrow nasal ridge?", "seeds": [ "Narrow nasal ridge" ], "gold_answer": "Abnormal external nose morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02802", "question": "What is associated with Juvenile CLN1 disease?", "seeds": [ "Juvenile CLN1 disease" ], "gold_answer": "PPT1", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } }, { "query_id": "orph_dev_02803", "question": "What is associated with Multiple enchondromatosis, Maffucci type?", "seeds": [ "Multiple enchondromatosis, Maffucci type" ], "gold_answer": "Enchondroma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02804", "question": "What phenotype is associated with Myoglobinuria, autosomal dominant?", "seeds": [ "Myoglobinuria, autosomal dominant" ], "gold_answer": "Elevated circulating creatine kinase concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02805", "question": "What is associated with Klippel-Feil syndrome 3, autosomal dominant?", "seeds": [ "Klippel-Feil syndrome 3, autosomal dominant" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02806", "question": "What is associated with Parasomnia?", "seeds": [ "Parasomnia" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02807", "question": "What is associated with Oocyte maturation defect 13?", "seeds": [ "Oocyte maturation defect 13" ], "gold_answer": "Decreased fertility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02808", "question": "What is associated with Laryngotracheal stenosis?", "seeds": [ "Laryngotracheal stenosis" ], "gold_answer": "Laryngeal stenosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02809", "question": "What is associated with Parkinson disease 15, autosomal recessive early-onset?", "seeds": [ "Parkinson disease 15, autosomal recessive early-onset" ], "gold_answer": "Positional foot deformity", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02810", "question": "What phenotype is associated with MAN1B1-CDG?", "seeds": [ "MAN1B1-CDG" ], "gold_answer": "Malar flattening", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02811", "question": "What is associated with Priapism?", "seeds": [ "Priapism" ], "gold_answer": "Male sexual dysfunction", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02812", "question": "What is associated with History of stillbirth?", "seeds": [ "History of stillbirth" ], "gold_answer": "Past obstetric history", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02813", "question": "What is associated with Nongranulomatous uveitis?", "seeds": [ "Nongranulomatous uveitis" ], "gold_answer": "Uveitis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02814", "question": "What is associated with Airway casts?", "seeds": [ "Airway casts" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02815", "question": "What is associated with Elevated urinary dihydrouracil level?", "seeds": [ "Elevated urinary dihydrouracil level" ], "gold_answer": "Abnormal urinary nucleobase concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02816", "question": "What is associated with Painless fractures due to injury?", "seeds": [ "Painless fractures due to injury" ], "gold_answer": "Abnormality of pain sensation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02817", "question": "What is associated with Tn polyagglutination syndrome?", "seeds": [ "Tn polyagglutination syndrome" ], "gold_answer": "Phenotypic abnormality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02818", "question": "What is associated with Progressive microcephaly?", "seeds": [ "Progressive microcephaly" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02819", "question": "What phenotype is associated with Presacral ganglioneuroma?", "seeds": [ "Presacral ganglioneuroma" ], "gold_answer": "Central hypoventilation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02820", "question": "What is associated with Hypogonadotropic hypogonadism?", "seeds": [ "Hypogonadotropic hypogonadism" ], "gold_answer": "Abnormality of the genital system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02821", "question": "What phenotype is associated with Pseudo-Von willebrand disease?", "seeds": [ "Pseudo-Von willebrand disease" ], "gold_answer": "Intermittent thrombocytopenia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02822", "question": "What phenotype is associated with Neuronopathy, distal hereditary motor, type IX?", "seeds": [ "Neuronopathy, distal hereditary motor, type IX" ], "gold_answer": "Hyporeflexia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02823", "question": "What is associated with Ectopia lentis?", "seeds": [ "Ectopia lentis" ], "gold_answer": "Abnormal anterior eye segment morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02824", "question": "What is associated with Familial median cleft of the upper and lower lips?", "seeds": [ "Familial median cleft of the upper and lower lips" ], "gold_answer": "Abnormality of the face", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02825", "question": "What phenotype is associated with Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations?", "seeds": [ "Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations" ], "gold_answer": "Oculomotor apraxia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02826", "question": "What is associated with Glaucoma 3, primary congenital, A?", "seeds": [ "Glaucoma 3, primary congenital, A" ], "gold_answer": "Developmental glaucoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02827", "question": "What is associated with Severe combined immunodeficiency with sensitivity to ionizing radiation?", "seeds": [ "Severe combined immunodeficiency with sensitivity to ionizing radiation" ], "gold_answer": "Abnormal oral mucosa morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02828", "question": "What is associated with Pulmonary bleb?", "seeds": [ "Pulmonary bleb" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02829", "question": "What is associated with Bendopnea?", "seeds": [ "Bendopnea" ], "gold_answer": "Dyspnea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02830", "question": "What is associated with XK aprosencephaly syndrome?", "seeds": [ "XK aprosencephaly syndrome" ], "gold_answer": "Abnormal upper limb bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02831", "question": "What is associated with Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity?", "seeds": [ "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" ], "gold_answer": "Abnormal language feature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02832", "question": "What is associated with Hypoplastic nasal tip?", "seeds": [ "Hypoplastic nasal tip" ], "gold_answer": "Abnormal external nose morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02833", "question": "What is associated with Increased circulating vitamin E concentration?", "seeds": [ "Increased circulating vitamin E concentration" ], "gold_answer": "Abnormality of vitamin metabolism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02834", "question": "What is associated with Contracture of the metacarpophalangeal joint of the 4th finger?", "seeds": [ "Contracture of the metacarpophalangeal joint of the 4th finger" ], "gold_answer": "Abnormal 4th finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02835", "question": "What is associated with Atherosclerotic lesion?", "seeds": [ "Atherosclerotic lesion" ], "gold_answer": "Abnormal systemic arterial morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02836", "question": "What phenotype is associated with Wieacker-Wolff syndrome, female-restricted?", "seeds": [ "Wieacker-Wolff syndrome, female-restricted" ], "gold_answer": "Drooling", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02837", "question": "What phenotype is associated with T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta?", "seeds": [ "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta" ], "gold_answer": "Chronic oral candidiasis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02838", "question": "What is associated with Abnormal renal morphology?", "seeds": [ "Abnormal renal morphology" ], "gold_answer": "Abnormality of the kidney", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02839", "question": "What phenotype is associated with Breast-Ovarian cancer, familial, susceptibility to, 2?", "seeds": [ "Breast-Ovarian cancer, familial, susceptibility to, 2" ], "gold_answer": "Breast carcinoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02840", "question": "What is associated with Oocyte maturation defect 7?", "seeds": [ "Oocyte maturation defect 7" ], "gold_answer": "Decreased fertility", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02841", "question": "What is associated with Autosomal recessive Charcot-Marie-Tooth disease with hoarseness?", "seeds": [ "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02842", "question": "What is associated with Abnormal lung development?", "seeds": [ "Abnormal lung development" ], "gold_answer": "Abnormal lung morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02843", "question": "What is associated with Exercise-induced myalgia?", "seeds": [ "Exercise-induced myalgia" ], "gold_answer": "Pain", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02844", "question": "What is associated with O'donnell-Luria-Rodan syndrome?", "seeds": [ "O'donnell-Luria-Rodan syndrome" ], "gold_answer": "Recurrent maladaptive behavior", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02845", "question": "What is associated with Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome?", "seeds": [ "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome" ], "gold_answer": "Abnormality of the dentition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02846", "question": "What is associated with Spastic tetraplegia?", "seeds": [ "Spastic tetraplegia" ], "gold_answer": "Cerebral palsy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02847", "question": "What is associated with Obstructive azoospermia?", "seeds": [ "Obstructive azoospermia" ], "gold_answer": "Functional abnormality of male internal genitalia", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02848", "question": "What is associated with Renal intratubular casts?", "seeds": [ "Renal intratubular casts" ], "gold_answer": "Abnormal renal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02849", "question": "What is associated with Focal non-convulsive status epilepticus without impairment of consciousness?", "seeds": [ "Focal non-convulsive status epilepticus without impairment of consciousness" ], "gold_answer": "Non-convulsive status epilepticus without coma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02850", "question": "What is associated with Heinz bodies?", "seeds": [ "Heinz bodies" ], "gold_answer": "Abnormal erythrocyte morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02851", "question": "What is associated with Gallbladder adhesions?", "seeds": [ "Gallbladder adhesions" ], "gold_answer": "Abnormality of the gallbladder", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02852", "question": "What is associated with Inferior vena cava obstruction?", "seeds": [ "Inferior vena cava obstruction" ], "gold_answer": "Abnormal vena cava morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02853", "question": "What is associated with Abnormality of the upper arm?", "seeds": [ "Abnormality of the upper arm" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02854", "question": "What is associated with Increased total eosinophil count?", "seeds": [ "Increased total eosinophil count" ], "gold_answer": "Abnormal leukocyte count", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02855", "question": "What is associated with Focal active colitis?", "seeds": [ "Focal active colitis" ], "gold_answer": "Inflammation of the large intestine", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02856", "question": "What is associated with Thyroid cancer, nonmedullary, 3?", "seeds": [ "Thyroid cancer, nonmedullary, 3" ], "gold_answer": "Thyroid carcinoma", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02857", "question": "What is associated with Insulinoma?", "seeds": [ "Insulinoma" ], "gold_answer": "Neoplasm of the pancreas", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02858", "question": "What is associated with Grandiosity?", "seeds": [ "Grandiosity" ], "gold_answer": "Abnormal preoccupation", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02859", "question": "What is associated with Vertical supranuclear gaze palsy?", "seeds": [ "Vertical supranuclear gaze palsy" ], "gold_answer": "Abnormality of eye movement", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02860", "question": "What is associated with Short palm?", "seeds": [ "Short palm" ], "gold_answer": "Aplasia/hypoplasia involving bones of the hand", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02861", "question": "What is associated with Acrorenal syndrome?", "seeds": [ "Acrorenal syndrome" ], "gold_answer": "Abnormality of the urinary system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02862", "question": "What is associated with Fragmentation of the epiphysis of the proximal phalanx of the 5th toe?", "seeds": [ "Fragmentation of the epiphysis of the proximal phalanx of the 5th toe" ], "gold_answer": "Abnormality of the epiphyses of the 5th toe", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02863", "question": "What is associated with Retinitis pigmentosa 24?", "seeds": [ "Retinitis pigmentosa 24" ], "gold_answer": "Retinal dystrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02864", "question": "What phenotype is associated with Hypogonadotropic hypogonadism 14 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 14 with or without anosmia" ], "gold_answer": "Primary amenorrhea", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02865", "question": "What is associated with Abnormal radial epiphysis morphology?", "seeds": [ "Abnormal radial epiphysis morphology" ], "gold_answer": "Abnormal morphology of the radius", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02866", "question": "What phenotype is associated with Scheuermann disease?", "seeds": [ "Scheuermann disease" ], "gold_answer": "Osteochondrosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02867", "question": "What is associated with Hypogonadotropic hypogonadism 16 with or without anosmia?", "seeds": [ "Hypogonadotropic hypogonadism 16 with or without anosmia" ], "gold_answer": "Abnormality of the nose", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02868", "question": "What is associated with Cylindruria?", "seeds": [ "Cylindruria" ], "gold_answer": "Abnormal urine cytology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02869", "question": "What is associated with Transient decreased circulating IgD?", "seeds": [ "Transient decreased circulating IgD" ], "gold_answer": "Abnormal circulating IgD concentration", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02870", "question": "What is associated with Inflammatory arteriopathy?", "seeds": [ "Inflammatory arteriopathy" ], "gold_answer": "Abnormal blood vessel morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02871", "question": "What is associated with Congenital hip dislocation?", "seeds": [ "Congenital hip dislocation" ], "gold_answer": "Hip dislocation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02872", "question": "What is associated with Undetectable pattern electroretinogram?", "seeds": [ "Undetectable pattern electroretinogram" ], "gold_answer": "Abnormal pattern electroretinogram", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02873", "question": "What is associated with Prefrontal hypometabolism in FDG PET?", "seeds": [ "Prefrontal hypometabolism in FDG PET" ], "gold_answer": "Abnormal brain FDG positron emission tomography", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02874", "question": "What is associated with Ascending aorta hypoplasia?", "seeds": [ "Ascending aorta hypoplasia" ], "gold_answer": "Abnormal aortic morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02875", "question": "What is associated with Small epiphysis of the middle phalanx of the 4th finger?", "seeds": [ "Small epiphysis of the middle phalanx of the 4th finger" ], "gold_answer": "Abnormality of the middle phalanx of the 4th finger", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02876", "question": "What is associated with 1q21.1 microduplication syndrome?", "seeds": [ "1q21.1 microduplication syndrome" ], "gold_answer": "Atypical behavior", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02877", "question": "What is associated with Hyperimidodipeptiduria?", "seeds": [ "Hyperimidodipeptiduria" ], "gold_answer": "Abnormality of urine homeostasis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02878", "question": "What is associated with Macular degeneration, age-related, 11?", "seeds": [ "Macular degeneration, age-related, 11" ], "gold_answer": "Abnormal retinal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02879", "question": "What is associated with Abnormal trapezoid bone morphology?", "seeds": [ "Abnormal trapezoid bone morphology" ], "gold_answer": "Abnormal wrist morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02880", "question": "What is associated with Atelosteogenesis type I?", "seeds": [ "Atelosteogenesis type I" ], "gold_answer": "Aplasia/Hypoplasia of the lungs", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02881", "question": "What is associated with Thinning of Descemet membrane?", "seeds": [ "Thinning of Descemet membrane" ], "gold_answer": "Abnormal Descemet membrane morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02882", "question": "What is associated with Anti-West Nile virus antibody positivity?", "seeds": [ "Anti-West Nile virus antibody positivity" ], "gold_answer": "Positive blood infectious agent test", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02883", "question": "What is associated with Abnormality of the thenar eminence?", "seeds": [ "Abnormality of the thenar eminence" ], "gold_answer": "Abnormality of the musculature of the limbs", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02884", "question": "What is associated with Bridged sella turcica?", "seeds": [ "Bridged sella turcica" ], "gold_answer": "Abnormal sella turcica morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02885", "question": "What is associated with Autosomal recessive spastic paraplegia type 11?", "seeds": [ "Autosomal recessive spastic paraplegia type 11" ], "gold_answer": "Abnormal cerebral white matter morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02886", "question": "What phenotype is associated with Leukodystrophy, hypomyelinating, 25?", "seeds": [ "Leukodystrophy, hypomyelinating, 25" ], "gold_answer": "Growth delay", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02887", "question": "What phenotype is associated with Citrullinemia type II?", "seeds": [ "Citrullinemia type II" ], "gold_answer": "Decreased body mass index", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02888", "question": "What is associated with Skin infectious agent?", "seeds": [ "Skin infectious agent" ], "gold_answer": "Abnormality of the integument", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02889", "question": "What is associated with Hypoplastic scapulae?", "seeds": [ "Hypoplastic scapulae" ], "gold_answer": "Abnormal scapula morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02890", "question": "What is associated with Snowflake vitreoretinal degeneration?", "seeds": [ "Snowflake vitreoretinal degeneration" ], "gold_answer": "Abnormal Descemet membrane morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02891", "question": "What is associated with Gangrene?", "seeds": [ "Gangrene" ], "gold_answer": "Constitutional symptom", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02892", "question": "What is associated with Elevated circulating decenoylcarnitine concentration?", "seeds": [ "Elevated circulating decenoylcarnitine concentration" ], "gold_answer": "Elevated circulating medium-chain acylcarnitine concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02893", "question": "What is associated with Peroxisome biogenesis disorder 5B?", "seeds": [ "Peroxisome biogenesis disorder 5B" ], "gold_answer": "Abnormal muscle tone", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02894", "question": "What is associated with Intra-epidermal blistering?", "seeds": [ "Intra-epidermal blistering" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02895", "question": "What is associated with Mild?", "seeds": [ "Mild" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02896", "question": "What is associated with Anodontia of permanent dentition?", "seeds": [ "Anodontia of permanent dentition" ], "gold_answer": "Abnormal number of teeth", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02897", "question": "What is associated with Esophageal stenosis?", "seeds": [ "Esophageal stenosis" ], "gold_answer": "Abnormal esophagus morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02898", "question": "What is associated with Mandibular condyle aplasia?", "seeds": [ "Mandibular condyle aplasia" ], "gold_answer": "Abnormal mandible condylar process morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02899", "question": "What is associated with Myelin tomacula?", "seeds": [ "Myelin tomacula" ], "gold_answer": "Peripheral hypermyelination", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02900", "question": "What is associated with Congenital alveolar capillary dysplasia?", "seeds": [ "Congenital alveolar capillary dysplasia" ], "gold_answer": "Deviation of the 5th finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02901", "question": "What is associated with Lymph-node hemophagocytosis?", "seeds": [ "Lymph-node hemophagocytosis" ], "gold_answer": "Abnormal macrophage morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02902", "question": "What is associated with Ventilator-induced diaphragmatic dysfunction?", "seeds": [ "Ventilator-induced diaphragmatic dysfunction" ], "gold_answer": "Abnormal respiratory system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02903", "question": "What is associated with Microcephaly 8, primary, autosomal recessive?", "seeds": [ "Microcephaly 8, primary, autosomal recessive" ], "gold_answer": "Abnormal forehead morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02904", "question": "What is associated with Mesoaxial synostotic syndactyly with phalangeal reduction?", "seeds": [ "Mesoaxial synostotic syndactyly with phalangeal reduction" ], "gold_answer": "Deviation of finger", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02905", "question": "What is associated with Cerebellar hemisphere hypoplasia?", "seeds": [ "Cerebellar hemisphere hypoplasia" ], "gold_answer": "Aplasia/Hypoplasia of the cerebellum", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02906", "question": "What is associated with Forearm reduction defects?", "seeds": [ "Forearm reduction defects" ], "gold_answer": "Abnormality of the upper limb", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02907", "question": "What is associated with Hyperlipoproteinemia, type V?", "seeds": [ "Hyperlipoproteinemia, type V" ], "gold_answer": "Abnormality of lipoprotein cholesterol concentration", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02908", "question": "What is associated with Infra-orbital crease?", "seeds": [ "Infra-orbital crease" ], "gold_answer": "Abnormality of the head", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02909", "question": "What is associated with Beta-thalassemia intermedia?", "seeds": [ "Beta-thalassemia intermedia" ], "gold_answer": "Elevated pulmonary artery pressure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02910", "question": "What is associated with NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES?", "seeds": [ "NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES" ], "gold_answer": "All", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02911", "question": "What is associated with Cone-Rod dystrophy, X-linked, 2?", "seeds": [ "Cone-Rod dystrophy, X-linked, 2" ], "gold_answer": "Retinal dystrophy", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02912", "question": "What is associated with Perrault syndrome 3?", "seeds": [ "Perrault syndrome 3" ], "gold_answer": "Hypogonadism", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02913", "question": "What is associated with Exudative vitreoretinopathy 1?", "seeds": [ "Exudative vitreoretinopathy 1" ], "gold_answer": "Abnormal lens morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02914", "question": "What is associated with Aplasia of the 4th finger?", "seeds": [ "Aplasia of the 4th finger" ], "gold_answer": "Abnormal 4th finger morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02915", "question": "What is associated with Rounded atelectasis?", "seeds": [ "Rounded atelectasis" ], "gold_answer": "Abnormal pulmonary thoracic imaging finding", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02916", "question": "What is associated with Eosinophilic neuronal inclusion bodies?", "seeds": [ "Eosinophilic neuronal inclusion bodies" ], "gold_answer": "Abnormal neuron morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02917", "question": "What is associated with Pulsus paradoxus?", "seeds": [ "Pulsus paradoxus" ], "gold_answer": "Abnormal vascular physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02918", "question": "What is associated with POMT2-related limb-girdle muscular dystrophy R14?", "seeds": [ "POMT2-related limb-girdle muscular dystrophy R14" ], "gold_answer": "Abnormal thorax morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02919", "question": "What is associated with Epilepsy, familial adult myoclonic, 2?", "seeds": [ "Epilepsy, familial adult myoclonic, 2" ], "gold_answer": "Abnormality of coordination", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02920", "question": "What phenotype is associated with Holoprosencephaly?", "seeds": [ "Holoprosencephaly" ], "gold_answer": "Abnormality of neuronal migration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02921", "question": "What phenotype is associated with Multiple endocrine neoplasia, type IIB?", "seeds": [ "Multiple endocrine neoplasia, type IIB" ], "gold_answer": "High, narrow palate", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02922", "question": "What is associated with Abnormal biliary tract physiology?", "seeds": [ "Abnormal biliary tract physiology" ], "gold_answer": "Abnormality of the biliary system", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02923", "question": "What is associated with Spastic paraplegia 64, autosomal recessive?", "seeds": [ "Spastic paraplegia 64, autosomal recessive" ], "gold_answer": "Abnormally increased volition", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02924", "question": "What is associated with Triggered by extension of leg?", "seeds": [ "Triggered by extension of leg" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02925", "question": "What is associated with Triangular nail?", "seeds": [ "Triangular nail" ], "gold_answer": "Abnormal nail shape", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02926", "question": "What phenotype is associated with Spherocytosis, type 2?", "seeds": [ "Spherocytosis, type 2" ], "gold_answer": "Jaundice", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02927", "question": "What is associated with Type III truncus arteriosus?", "seeds": [ "Type III truncus arteriosus" ], "gold_answer": "Abnormal morphology of the great vessels", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02928", "question": "What is associated with Bradycardia?", "seeds": [ "Bradycardia" ], "gold_answer": "Abnormal cardiovascular system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02929", "question": "What is associated with Myocardial multinucleated giant cells?", "seeds": [ "Myocardial multinucleated giant cells" ], "gold_answer": "Myocardial immune cell infiltration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02930", "question": "What phenotype is associated with Stankiewicz-Isidor syndrome?", "seeds": [ "Stankiewicz-Isidor syndrome" ], "gold_answer": "Onychoheterotopia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02931", "question": "What is associated with Gastrointestinal arteriovenous malformation?", "seeds": [ "Gastrointestinal arteriovenous malformation" ], "gold_answer": "Arteriovenous malformation", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02932", "question": "What is associated with Premature epimetaphyseal fusion in foot?", "seeds": [ "Premature epimetaphyseal fusion in foot" ], "gold_answer": "Abnormal long bone morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02933", "question": "What is associated with Crescentic glomerulonephritis?", "seeds": [ "Crescentic glomerulonephritis" ], "gold_answer": "Nephritis", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02934", "question": "What is associated with Heart block?", "seeds": [ "Heart block" ], "gold_answer": "Abnormality of cardiovascular system electrophysiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02935", "question": "What is associated with Fractured capitate bone?", "seeds": [ "Fractured capitate bone" ], "gold_answer": "Fractured hand bones", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02936", "question": "What phenotype is associated with Pemphigoid gestationis?", "seeds": [ "Pemphigoid gestationis" ], "gold_answer": "Abnormal blistering of the skin", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02937", "question": "What is associated with Bicuspid aortic valve with right-left cusp fusion?", "seeds": [ "Bicuspid aortic valve with right-left cusp fusion" ], "gold_answer": "Abnormal aortic valve cusp morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02938", "question": "What is associated with Sandifer syndrome?", "seeds": [ "Sandifer syndrome" ], "gold_answer": "Abnormal neck morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02939", "question": "What phenotype is associated with Methylmalonic acidemia with homocystinuria?", "seeds": [ "Methylmalonic acidemia with homocystinuria" ], "gold_answer": "Microcephaly", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02940", "question": "What phenotype is associated with Reticuloendotheliosis, X-linked?", "seeds": [ "Reticuloendotheliosis, X-linked" ], "gold_answer": "Lymphadenopathy", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02941", "question": "What is associated with Abnormal cognitive process?", "seeds": [ "Abnormal cognitive process" ], "gold_answer": "Abnormality of mental function", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02942", "question": "What is associated with Triggered by monoamine oxidase inhibitor?", "seeds": [ "Triggered by monoamine oxidase inhibitor" ], "gold_answer": "Clinical modifier", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02943", "question": "What is associated with Urolithiasis?", "seeds": [ "Urolithiasis" ], "gold_answer": "Abnormal ureter morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02944", "question": "What is associated with Localized epidermolytic hyperkeratosis?", "seeds": [ "Localized epidermolytic hyperkeratosis" ], "gold_answer": "Ichthyosis", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02945", "question": "What is associated with Abnormal levator palpebrae superioris morphology?", "seeds": [ "Abnormal levator palpebrae superioris morphology" ], "gold_answer": "Abnormality of the musculature", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02946", "question": "What is associated with Lentiginosis, centrofacial neurodysraphic?", "seeds": [ "Lentiginosis, centrofacial neurodysraphic" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02947", "question": "What is associated with Lactic acidosis?", "seeds": [ "Lactic acidosis" ], "gold_answer": "Abnormal homeostasis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02948", "question": "What is associated with Atrial reentry tachycardia?", "seeds": [ "Atrial reentry tachycardia" ], "gold_answer": "Supraventricular arrhythmia", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02949", "question": "What is associated with Caudate atrophy?", "seeds": [ "Caudate atrophy" ], "gold_answer": "Abnormal caudate nucleus morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02950", "question": "What is associated with Emotional insecurity?", "seeds": [ "Emotional insecurity" ], "gold_answer": "Abnormal experience of reality", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02951", "question": "What is associated with Myofibromatosis, infantile, 1?", "seeds": [ "Myofibromatosis, infantile, 1" ], "gold_answer": "Soft tissue neoplasm", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02952", "question": "What is associated with Myopathy, lactic acidosis, and sideroblastic anemia 1?", "seeds": [ "Myopathy, lactic acidosis, and sideroblastic anemia 1" ], "gold_answer": "Abnormal curvature of the vertebral column", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02953", "question": "What is associated with Toe joint contracture?", "seeds": [ "Toe joint contracture" ], "gold_answer": "Abnormal foot morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02954", "question": "What is associated with Focal impaired awareness emotional seizure with fear/anxiety/panic?", "seeds": [ "Focal impaired awareness emotional seizure with fear/anxiety/panic" ], "gold_answer": "Focal impaired awareness emotional seizure", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02955", "question": "What is associated with Abnormal cementum morphology?", "seeds": [ "Abnormal cementum morphology" ], "gold_answer": "Abnormal odontoid tissue morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02956", "question": "What is associated with Deep episcleral hyperemia?", "seeds": [ "Deep episcleral hyperemia" ], "gold_answer": "Abnormal eye morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02957", "question": "What is associated with Porphyria cutanea tarda?", "seeds": [ "Porphyria cutanea tarda" ], "gold_answer": "TREX1", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "major_susceptibility_factor_in" } }, { "query_id": "orph_dev_02958", "question": "What is associated with X-linked intellectual disability, Shashi type?", "seeds": [ "X-linked intellectual disability, Shashi type" ], "gold_answer": "Abnormal nervous system physiology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02959", "question": "What is associated with Factor XII deficiency?", "seeds": [ "Factor XII deficiency" ], "gold_answer": "Abnormality of blood and blood-forming tissues", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02960", "question": "What is associated with Developmental delay and seizures with or without movement abnormalities?", "seeds": [ "Developmental delay and seizures with or without movement abnormalities" ], "gold_answer": "Generalized-onset seizure", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02961", "question": "What is associated with Increased proportion of CD25+ mast cells?", "seeds": [ "Increased proportion of CD25+ mast cells" ], "gold_answer": "Abnormal myeloid leukocyte morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02962", "question": "What is associated with Elevated CSF D-2-hydroxyglutaric acid concentration?", "seeds": [ "Elevated CSF D-2-hydroxyglutaric acid concentration" ], "gold_answer": "Abnormal CSF carboxylic acid concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02963", "question": "What is associated with Absent nipple?", "seeds": [ "Absent nipple" ], "gold_answer": "Aplasia/Hypoplasia of the nipples", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02964", "question": "What is associated with Absent epiphysis of the distal phalanx of the 3rd toe?", "seeds": [ "Absent epiphysis of the distal phalanx of the 3rd toe" ], "gold_answer": "Absent epiphyses of the toes", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02965", "question": "What is associated with Decreased circulating reverse T3 concentration?", "seeds": [ "Decreased circulating reverse T3 concentration" ], "gold_answer": "Abnormality of thyroid physiology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02966", "question": "What is associated with Decreased circulating superoxide dismutase concentration?", "seeds": [ "Decreased circulating superoxide dismutase concentration" ], "gold_answer": "Abnormal circulating superoxide dismutase activity", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02967", "question": "What is associated with Decreased circulating calcitonin concentration?", "seeds": [ "Decreased circulating calcitonin concentration" ], "gold_answer": "Acute phase response", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02968", "question": "What is associated with Diminished tissue fumarylacetoacetate hydrolase activity?", "seeds": [ "Diminished tissue fumarylacetoacetate hydrolase activity" ], "gold_answer": "Abnormal enzyme concentration or activity", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02969", "question": "What is associated with Abnormal fetal physiology?", "seeds": [ "Abnormal fetal physiology" ], "gold_answer": "Abnormality of prenatal development or birth", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02970", "question": "What is associated with Fragmentation of the epiphysis of the proximal phalanx of the thumb?", "seeds": [ "Fragmentation of the epiphysis of the proximal phalanx of the thumb" ], "gold_answer": "Fragmented upper limb epiphysis", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02971", "question": "What phenotype is associated with D-bifunctional protein deficiency?", "seeds": [ "D-bifunctional protein deficiency" ], "gold_answer": "Cortical dysplasia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02972", "question": "What is associated with Tubulonodular pericallosal lipoma?", "seeds": [ "Tubulonodular pericallosal lipoma" ], "gold_answer": "Pericallosal lipoma", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02973", "question": "What is associated with Intellectual developmental disorder, autosomal recessive 27?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 27" ], "gold_answer": "Neurodevelopmental delay", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02974", "question": "What is associated with Intoeing?", "seeds": [ "Intoeing" ], "gold_answer": "Abnormality of movement", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02975", "question": "What is associated with Parkinson disease 14, autosomal recessive?", "seeds": [ "Parkinson disease 14, autosomal recessive" ], "gold_answer": "TAF15", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "candidate_gene_tested_in" } }, { "query_id": "orph_dev_02976", "question": "What is associated with Abnormal head movements?", "seeds": [ "Abnormal head movements" ], "gold_answer": "Abnormality of the nervous system", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02977", "question": "What phenotype is associated with Intellectual developmental disorder, autosomal recessive 59?", "seeds": [ "Intellectual developmental disorder, autosomal recessive 59" ], "gold_answer": "Intellectual disability", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02978", "question": "What is associated with Small epiphyses of the phalanges of the hand?", "seeds": [ "Small epiphyses of the phalanges of the hand" ], "gold_answer": "Abnormal epiphysis morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02979", "question": "What is associated with Testicular gonadoblastoma?", "seeds": [ "Testicular gonadoblastoma" ], "gold_answer": "Testicular neoplasm", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02980", "question": "What is associated with Subpleural curvilinear line?", "seeds": [ "Subpleural curvilinear line" ], "gold_answer": "Abnormal respiratory system morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02981", "question": "What is associated with Extension contracture of finger?", "seeds": [ "Extension contracture of finger" ], "gold_answer": "Finger joint contracture", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02982", "question": "What is associated with Seminal vesicle agenesis?", "seeds": [ "Seminal vesicle agenesis" ], "gold_answer": "Abnormal seminal vesicle morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02983", "question": "What is associated with Papillary dermal edema?", "seeds": [ "Papillary dermal edema" ], "gold_answer": "Abnormal skin morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02984", "question": "What is associated with Archibald's sign?", "seeds": [ "Archibald's sign" ], "gold_answer": "Abnormal hand morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02985", "question": "What is associated with Bifid femur?", "seeds": [ "Bifid femur" ], "gold_answer": "Abnormal lower limb bone morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02986", "question": "What phenotype is associated with Radioulnar synostosis with amegakaryocytic thrombocytopenia?", "seeds": [ "Radioulnar synostosis with amegakaryocytic thrombocytopenia" ], "gold_answer": "Megakaryocytopenia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02987", "question": "What is associated with Müllerian derivatives-lymphangiectasia-polydactyly syndrome?", "seeds": [ "Müllerian derivatives-lymphangiectasia-polydactyly syndrome" ], "gold_answer": "Abnormality of the liver", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02988", "question": "What is associated with Elevated 8(9)-cholestenol?", "seeds": [ "Elevated 8(9)-cholestenol" ], "gold_answer": "Abnormal circulating cholesterol concentration", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02989", "question": "What is associated with Absence of intermediate von Willebrand factor multimers?", "seeds": [ "Absence of intermediate von Willebrand factor multimers" ], "gold_answer": "Abnormality of the coagulation cascade", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02990", "question": "What is associated with Abnormal testis morphology?", "seeds": [ "Abnormal testis morphology" ], "gold_answer": "Abnormal external genitalia morphology", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02991", "question": "What is associated with Neonatal alloimmune thrombocytopenia?", "seeds": [ "Neonatal alloimmune thrombocytopenia" ], "gold_answer": "Abnormal platelet morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02992", "question": "What is associated with Uvular swelling?", "seeds": [ "Uvular swelling" ], "gold_answer": "Abnormal uvula morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02993", "question": "What is associated with Gaucher disease, type I?", "seeds": [ "Gaucher disease, type I" ], "gold_answer": "Abnormal bone marrow cell morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02994", "question": "What is associated with Vitreous hemorrhage?", "seeds": [ "Vitreous hemorrhage" ], "gold_answer": "Abnormal vitreous humor morphology", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02995", "question": "What is associated with EMG: impaired neuromuscular transmission?", "seeds": [ "EMG: impaired neuromuscular transmission" ], "gold_answer": "EMG abnormality", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "is_a" } }, { "query_id": "orph_dev_02996", "question": "What phenotype is associated with Spermatogenic failure 9?", "seeds": [ "Spermatogenic failure 9" ], "gold_answer": "Globozoospermia", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "has_phenotype" } }, { "query_id": "orph_dev_02997", "question": "What is associated with Spastic paraplegia 9A, autosomal dominant?", "seeds": [ "Spastic paraplegia 9A, autosomal dominant" ], "gold_answer": "Abnormal carpal morphology", "answer_label": "yes", "_meta": { "hop": 3, "final_relation": "is_a" } }, { "query_id": "orph_dev_02998", "question": "What is associated with Hypergranulosis?", "seeds": [ "Hypergranulosis" ], "gold_answer": "Thickened skin", "answer_label": "yes", "_meta": { "hop": 2, "final_relation": "is_a" } }, { "query_id": "orph_dev_02999", "question": "What is associated with Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies?", "seeds": [ "Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies" ], "gold_answer": "ITM2B", "answer_label": "yes", "_meta": { "hop": 1, "final_relation": "disease_causing_germline_mutation_s_in" } } ]