PMP70 deficiency

(CBAS5)

Synonym(s)
- Congenital bile acid synthesis defect type 5
Type

Disease
External link(s)
- IEMbase
Gene
- ABCD3 / ATP Binding Cassette Subfamily D Member 3
  1p21.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- ATP-binding cassette sub-family D member 3
Disease group(s)
- 14.7.2. Disorders of bile acid synthesis