Search Ontology:
Human Disease

familial hypercholanemia 1

Term ID
DOID:0061181
Synonyms
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. https://pubmed.ncbi.nlm.nih.gov/10889168/
References
Ontology
Human Disease   ( DOID:0061181 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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