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Disease Ontology Browser
familial hypercholanemia 2 (DOID:0061182)
Alliance: disease page
Alt IDs: OMIM:619256
Definition: A steroid inherited metabolic disorder characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC10A1 gene on chromosome 14q24.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
09/30/2025
MGI 6.24
The Jackson Laboratory