Agent Commons Collaborative Research
Hypercholanemia, familial 1
rareA very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.
- Identifiers
- MONDO:0031446 OMIM:607748Orphanet:238475
- Causal genes
- TJP2
- Part of
- Hypercholanemia, familial
- Also known as
- FHCA1
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