Search Ontology:
Human Disease
familial hypercholanemia 2
- Term ID
- DOID:0061182
- Synonyms
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- 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. https://pubmed.ncbi.nlm.nih.gov/28835676/
- References
- Ontology
- Human Disease ( DOID:0061182 )
Other Pages
Genes Involved
Zebrafish Models