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Standards Ontologies Notations
congenital bile acid synthesis defect 5

Summary
Synonym
  • CBAS5
Definition
A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21.
Super Class
congenital bile acid synthesis defect
Disease Ontology
DOID:0111066
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5825 ABCD3 ATP binding cassette subfamily D member 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
19299 Abcd3 ATP-binding cassette, sub-family D member 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
25270 Abcd3 ATP binding cassette subfamily D member 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
855956 PXA1 ATP-binding cassette long-chain fatty acid transporter PXA1
The Human Phenotype Ontology
Displaying entries 11 - 15 of 15 in total
HPO ID HPO Term
HP:0001409 Portal hypertension
HP:0012202 Increased serum bile acid concentration
HP:0001891 Iron deficiency anemia
HP:0001395 Hepatic fibrosis
HP:0003593 Infantile onset
Displaying 1 entry
Gene ID Gene Symbol Description
5825 ABCD3 ATP binding cassette subfamily D member 3
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024