Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

ALPHA-METHYLACYL-CoA RACEMASE
Synonyms

ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/604489
altLabel

ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4

AMACR
cui

C1858328

C3280428

C1412374
Gene Locus

5p13.2-q11.1
Gene Symbol

CBAS4

AMACRD

AMACR
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/604489.0001

http://purl.bioontology.org/ontology/OMIM/604489.0002
MIMTYPEMEANING

Gene with known sequence
notation

604489
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

ALPHA-METHYLACYL-CoA RACEMASE
tui

T028

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C565768 Medical Subject Headings CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48211 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/LNC/MTHU054498 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/LNC/LP201758-2 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/MESH/C108352 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/MESH/C535444 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/PR_000003984 Protein Ontology LOOM