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
MYOZ2 hypertrophic cardiomyopathy 13455
pharyngeal throat cancer 21345
progressive myoclonic epilepsy type 5 http://purl.obolibrary.org/obo/MONDO_0013451
dihydrofolate reductase deficiency 13456
megaloblastic anemia due to dihydrofolate reductase deficiency 13456
night blindness, congenital stationary, type 1D 13450
night blindness, congenital stationary, type 1D; CSNB1D http://purl.obolibrary.org/obo/MONDO_0013450
hypertrophic cardiomyopathy caused by mutation in MYOZ2 13455
osteogenesis imperfecta caused by mutation in SERPINH1 13459
CRB1 Leber congenital amaurosis 13453
IMPDH1 Leber congenital amaurosis 13454
TULP1 Leber congenital amaurosis 13457
amaurosis congenita of Leber, type 11 13454
SERPINH1 osteogenesis imperfecta 13459
obsolete progressive myoclonic epilepsy type 5 13451.0