Hypercholanemia, familial 1

Definition

A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.

Also known as FHCA1 — per MONDO

Also identified as

• DOID 0061181 per MONDO
• MESH C564336 per MONDO
• OMIM 607748 per MONDO
• Orphanet 238475 per MONDO
• SCTID 723360007 per MONDO
• UMLS C5542604 per MONDO