Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4
Synonyms

CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE CONVERSION OF TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID
ID

http://purl.bioontology.org/ontology/OMIM/214950
altLabel

CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE CONVERSION OF TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID

CBAS4

TRIHYDROXYCOPROSTANIC ACID IN BILE
cui

C1858328
Gene Locus

5p13.2-q11.1
Gene Symbol

CBAS4

AMACRD

AMACR
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU022193

http://purl.bioontology.org/ontology/OMIM/MTHU003427

http://purl.bioontology.org/ontology/OMIM/MTHU003421

http://purl.bioontology.org/ontology/OMIM/MTHU002997

http://purl.bioontology.org/ontology/OMIM/MTHU022199

http://purl.bioontology.org/ontology/OMIM/MTHU022197

http://purl.bioontology.org/ontology/OMIM/MTHU022195

http://purl.bioontology.org/ontology/OMIM/MTHU023569

http://purl.bioontology.org/ontology/OMIM/MTHU022201

http://purl.bioontology.org/ontology/OMIM/MTHU023568

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU027822

http://purl.bioontology.org/ontology/OMIM/MTHU011493

http://purl.bioontology.org/ontology/OMIM/MTHU023572

http://purl.bioontology.org/ontology/OMIM/MTHU023570

http://purl.bioontology.org/ontology/OMIM/MTHU009985

http://purl.bioontology.org/ontology/OMIM/MTHU022202

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU023571
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

275650
notation

214950
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C535444 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C535444 Medical Subject Headings LOOM