MONDO_merge Find_IDs Find_Terms Annotation
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created at 2021-12-22 03:08:20 UTC
updated at 2021-12-22 07:06:09 UTC
MONDO_bioport_pref_name
183,974 entries
Label
Id
cardiomyopathy familial hypertrophic 16 13455
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 13458
obsolete progressive myoclonic epilepsy type 5 13451.0
cardiomyopathy, familial hypertrophic, 16 13455
cardiomyopathy, familial hypertrophic, 16; CMH16 http://purl.obolibrary.org/obo/MONDO_0013455
cardiomyopathy, familial hypertrophic, type 16 13455
retinitis pigmentosa, juvenile, Tulp1-Related http://purl.obolibrary.org/obo/MONDO_0013457
retinitis pigmentosa, juvenile, Tulp1-related 13457
epilepsy, progressive myoclonic, 5; EPM5 http://purl.obolibrary.org/obo/MONDO_0013451
carcinoma of pharynx 21345
multisystemic smooth muscle dysfunction syndrome 13452
amaurosis congenita of Leber, type 11 13454
congenital stationary night blindness 1D 13450
congenital stationary night blindness 1D autosomal recessive 13450
congenital stationary night blindness caused by mutation in SLC24A1 13450