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Mondo Disease Ontology
MONDO
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Label
Id
Description
leukoencephalopathy with mild cerebellar ataxia and white matter edema
MONDO_0014292
schwannomatosis 2
MONDO_0014299
schwannomatosis
MONDO_0008075
chromosome 5q12 deletion syndrome
MONDO_0014298
Joubert syndrome 22
MONDO_0014297
Warburg micro syndrome 4
MONDO_0014296
autosomal dominant nonsyndromic hearing loss 54
MONDO_0014291
neurodegeneration with brain iron accumulation 6
MONDO_0014290
obsolete genetic neurological channelopathy of the central nervous system
MONDO_0038261
autoimmune neurological channelopathy
MONDO_0038268
metaphyseal chondrodysplasia, Kaitila type
MONDO_0009594
Dyggve-Melchior-Clausen syndrome, X-linked
MONDO_0010583
Dyggve-Melchior-Clausen disease
MONDO_0009130
spondylometaphyseal dysplasia, Sedaghatian type
MONDO_0009593
inherited glutathione metabolism disease
MONDO_0040566
obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance
MONDO_0010582
metaphyseal acroscyphodysplasia
MONDO_0009592
X-linked hypohidrotic ectodermal dysplasia
MONDO_0010585
metachromatic leukodystrophy, juvenile form
MONDO_0009591
metachromatic leukodystrophy due to saposin B deficiency
MONDO_0009590