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GTR Home > Conditions/Phenotypes > Congenital bile acid synthesis defect 5

Congenital bile acid synthesis defect 5

Summary

Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene. [from MONDO]

Available tests

19 tests are in the database for this condition.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABC43, CBAS5, PMP70, PXMP1, ZWS2, ABCD3
    Summary: ATP binding cassette subfamily D member 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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