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Mondo Disease Ontology
MONDO
All terms in MONDO
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Label
Id
Description
microphthalmia, syndromic 2
MONDO_0010261
triple-A syndrome
MONDO_0009279
obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
MONDO_0009278
glaucoma 3A
MONDO_0009277
Bernard-Soulier syndrome
MONDO_0009276
gluteal muscles, absence of
MONDO_0009286
spondyloepimetaphyseal dysplasia, Bieganski type
MONDO_0010275
gamma-glutamyl transpeptidase deficiency
MONDO_0009285
testicular germ cell tumor 1
MONDO_0010274
glutathione synthetase deficiency without 5-oxoprolinuria
MONDO_0009284
inherited glutathione synthetase deficiency
MONDO_0017909
syndromic X-linked intellectual disability Shashi type
MONDO_0010277
glutaric acidemia type 3
MONDO_0009283
radioulnar synostosis, radial ray abnormalities, and severe malformations in the male
MONDO_0010276
terminal osseous dysplasia-pigmentary defects syndrome
MONDO_0010279
glutaryl-CoA dehydrogenase deficiency
MONDO_0009281
Christianson syndrome
MONDO_0010278
monosodium glutamate sensitivity
MONDO_0009280
X-linked myotubular myopathy-abnormal genitalia syndrome
MONDO_0010271
syndromic X-linked intellectual disability 7
MONDO_0010270