Disease #01840 (CBAS2 (bile acid synthesis defect, congenital, type 2 (CBAS-2)), OMIM:235555)

Global Variome shared LOVD

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Official abbreviation	CBAS2
Name	bile acid synthesis defect, congenital, type 2 (CBAS-2)
OMIM ID	235555
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	AKR1D1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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