Orphanet: Familial hypercholanemia

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Familial hypercholanemia

Disease definition

Familial hypercholanemia is 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.

ORPHA:238475

Classification level: Disorder

Synonym(s):
- Hereditary hypercholanemia
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: -
OMIM: 607748
UMLS: C1843139
MeSH: -
GARD: -
MedDRA: -

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Familial hypercholanemia

ORPHA:238475

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