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Mondo Disease Ontology
MONDO
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Label
Id
Description
double outlet right ventricle with subaortic or doubly committed ventricular septal defect
MONDO_0018498
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
MONDO_0018495
inherited retinal dystrophy
MONDO_0019118
inborn disorder of purine metabolism
MONDO_0019236
microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
MONDO_0018494
obsolete rare autonomic nervous system disorder
MONDO_0018497
ARX-related encephalopathy-brain malformation spectrum
MONDO_0018496
3-phosphoglycerate dehydrogenase deficiency
MONDO_0018491
neurometabolic disorder due to serine deficiency
MONDO_0018162
cono-spondylar dysplasia
MONDO_0018490
spondyloepiphyseal dysplasia
MONDO_0016761
malignant hyperthermia of anesthesia
MONDO_0018493
muscular channelopathy
MONDO_0019119
hereditary clear cell renal cell carcinoma
MONDO_0018492
hereditary renal cell carcinoma
MONDO_0003008
clear cell renal carcinoma
MONDO_0005005
hypercholanemia, familial 1
MONDO_0031446
hypercholanemia, familial
MONDO_0100327
macrothrombocytopenia, isolated
MONDO_0031447
inherited thrombocytopenia
MONDO_0100241