JSON

All terms in MONDO

Label Id Description
chorea, childhood-onset, with psychomotor retardation MONDO_0014839
Coffin-Siris syndrome 5 MONDO_0014838
Coffin-Siris syndrome MONDO_0015452
thrombocytopenia 6 MONDO_0014837
Charcot-Marie-Tooth disease axonal type 2CC MONDO_0014836
autosomal dominant nonsyndromic hearing loss 70 MONDO_0014853
obsolete palmoplantar carcinoma, multiple self-healing MONDO_0014852
hypercalcemia, infantile, 2 MONDO_0014851
hypercalcemia, infantile MONDO_0000212
retinitis pigmentosa and erythrocytic microcytosis MONDO_0014850
neurodevelopmental disorder with or without anomalies of the brain, eye, or heart MONDO_0014857
combined oxidative phosphorylation defect type 30 MONDO_0014856
intellectual disability, autosomal dominant 42 MONDO_0014855
autosomal dominant nonsyndromic hearing loss 66 MONDO_0014854
prenatal-onset spinal muscular atrophy with congenital bone fractures MONDO_0000209
microcephaly, short stature, and impaired glucose metabolism 1 MONDO_0000208
obsolete hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO_0000207
obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy MONDO_0000206
bile duct mucinous cystic neoplasm with an associated invasive carcinoma MONDO_0002868
bile duct adenocarcinoma MONDO_0003193