Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616278 http://purl.bioontology.org/ontology/OMIM/616278
Preferred Name	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5
Synonyms	CBAS5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CBAS5
prefLabel	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5
Gene Symbol	PXMP1 PMP70 CBAS5 ABCD3
Scope Statement	Caused by mutation in the ATP-binding cassette, subfamily D, member 3 gene (ABCD3, 170995.0003) [MOLECULAR BASIS] One patient has been reported (last curated March 2015) [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU051271 http://purl.bioontology.org/ontology/OMIM/MTHU051270 http://purl.bioontology.org/ontology/OMIM/MTHU024633 http://purl.bioontology.org/ontology/OMIM/MTHU037221 http://purl.bioontology.org/ontology/OMIM/MTHU051267 http://purl.bioontology.org/ontology/OMIM/MTHU002997 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU051269 http://purl.bioontology.org/ontology/OMIM/MTHU051268 http://purl.bioontology.org/ontology/OMIM/MTHU002596 http://purl.bioontology.org/ontology/OMIM/MTHU041486 See more See less
tui	T019
Gene Locus	1p22-p21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616278
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T019
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4225390
OMIM Entry Type	3
OMIM MimType Value	pound

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