FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term familial hypercholanemia 1 ID (Ontology) DOID:0061181 (Human Disease)
Definition A steroid inherited metabolic disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins that has_material_basis_in homozygous mutation in the TJP2 gene on chromosome 9q21.
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 Genes
 familial hypercholanemia 1       1
 for disease ribbon | familial hypercholanemia 1       1
 model of | familial hypercholanemia 1       1
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autosomal genetic disease
 |__autosomal recessive disease___________
lipid metabolism disorder                 |
 |__steroid inherited metabolic disorder__|
                                          familial hypercholanemia 1  1 rec.
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Is a autosomal recessive disease
steroid inherited metabolic disorder
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MIM:607748