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Mondo Disease Ontology
MONDO
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Label
Id
Description
colobomatous microphthalmia-rhizomelic dysplasia syndrome
MONDO_0014380
leukoencephalopathy, progressive, with ovarian failure
MONDO_0014387
ovarioleukodystrophy
MONDO_0020506
platelet-type bleeding disorder 18
MONDO_0014386
amelogenesis imperfecta hypomaturation type 2A5
MONDO_0014385
hypotrichosis 12
MONDO_0014384
ataxia-telangiectasia-like disorder 2
MONDO_0014399
Diamond-Blackfan anemia 13
MONDO_0014394
lymphatic malformation 4
MONDO_0014393
developmental and epileptic encephalopathy, 25
MONDO_0014392
severe combined immunodeficiency due to CTPS1 deficiency
MONDO_0014391
combined oxidative phosphorylation defect type 21
MONDO_0014398
combined oxidative phosphorylation defect type 20
MONDO_0014397
dilated cardiomyopathy 1NN
MONDO_0014396
frontotemporal dementia and/or amyotrophic lateral sclerosis 2
MONDO_0014395
hypotrichosis 13
MONDO_0014390
genetic epidermal appendage anomaly
MONDO_0021026
thallium poisoning
MONDO_0041996
unilateral hypoactive labyrinth
MONDO_0004801
chronic dacryoadenitis
MONDO_0004800