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
BASD4 8967
CBAS4 8967
Trihydroxycoprostanic acid 1N bile http://purl.obolibrary.org/obo/MONDO_0008967
congenital bile acid synthesis defect 4 8967
congenital bile acid synthesis defect type 4 8967
liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome 8967
2-methylacyl-CoA racemase deficiency 8967
Alpha-methyl-acyl-CoA racemase deficiency 8967
short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 18967
Trihydroxycoprostanic acid in bile 8967
trihydroxycoprostanic acid in bile 8967
bile acid synthesis defect, congenital, 4 8967
bile acid synthesis defect, congenital, 4; CBAS4 http://purl.obolibrary.org/obo/MONDO_0008967
bile acid synthesis defect, congenital, type 4 8967
cholestasis, intrahepatic, with defective conversion of 8967