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
cardiomyopathy, familial hypertrophic, 16 13455
cardiomyopathy, familial hypertrophic, 16; CMH16 http://purl.obolibrary.org/obo/MONDO_0013455
cardiomyopathy, familial hypertrophic, type 16 13455
SERPINH1 osteogenesis imperfecta 13459
retinitis pigmentosa, juvenile, Tulp1-Related http://purl.obolibrary.org/obo/MONDO_0013457
retinitis pigmentosa, juvenile, Tulp1-related 13457
multisystemic smooth muscle dysfunction syndrome 13452
obsolete progressive myoclonic epilepsy type 5 13451.0
epilepsy, progressive myoclonic, 5; EPM5 http://purl.obolibrary.org/obo/MONDO_0013451
congenital stationary night blindness 1D 13450
congenital stationary night blindness 1D autosomal recessive 13450
congenital stationary night blindness caused by mutation in SLC24A1 13450
congenital stationary night blindness type 1D 13450
amaurosis congenita of Leber, type 11 13454