congenital bile acid synthesis defect 1

congenital bile acid synthesis defect 1

http://purl.obolibrary.org/obo/MONDO_0011906

Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption. [ Orphanet:79301 ]

Synonyms: congenital bile acid synthesis defect caused by mutation in HSD3B7 bile acid synthesis defect, congenital, type 1 BASD1 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1 HSD3B7 congenital bile acid synthesis defect congenital bile acid synthesis defect 1 congenital bile acid synthesis defect type 1 CBAS1

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database cross reference

MESH:C535442 (Orphanet:79301/e)
DOID:0111071 (MONDO:equivalentTo)
OMIM:607765 (Orphanet:79301/e)
GARD:9813 (Orphanet:79301)
Orphanet:79301 (OMIM:607765)

Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://www.orpha.net/ORDO/Orphanet_79301

http://purl.obolibrary.org/obo/DOID_0111071

https://omim.org/entry/607765

http://identifiers.org/mesh/C535442

has related synonym

congenital bile acid synthesis defect, type 1

3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of

3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency

bile acid synthesis defect, congenital, 1

MONDO:0011906

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0011906

Term relations

Subclass of:

congenital bile acid synthesis defect