Terminology Service for NFDI4Health
Familial hypercholanemia (disorder)
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http://snomed.info/id/723360007
A very rare genetic disorder with clinical characteristics of elevated serum bile acid concentrations, itching and fat malabsorption reported in patients of Old Order Amish descent. Can be caused by mutation in the TJP2 gene on chromosome 9q21, the BAAT gene on chromosome 9q31, or the EPHX1 gene on chromosome 1q42.
Term info
Label
Familial hypercholanemia (disorder)
Synonyms
- Familial hypercholanemia
- Hereditary hypercholanemia
Term relations
Subclass of:
- Familial disease (disorder)
- Synthetic defect of bile acids (disorder)
- Autosomal recessive hereditary disorder (disorder)
- Autosomal recessive hereditary disorder (disorder) and Synthetic defect of bile acids (disorder) and Familial disease (disorder) and Role group (attribute) some (Occurrence (attribute) some Congenital (qualifier value)) and Role group (attribute) some (Finding site (attribute) some Liver structure (body structure))