Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY

Synonyms

AMACRD

ID

http://purl.bioontology.org/ontology/OMIM/614307

altLabel

AMACRD

AMACR DEFICIENCY

cui

C3280428

Gene Locus

5p13.2-q11.1

Gene Symbol

CBAS4

AMACRD

AMACR

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU002513

http://purl.bioontology.org/ontology/OMIM/MTHU035596

http://purl.bioontology.org/ontology/OMIM/MTHU000541

http://purl.bioontology.org/ontology/OMIM/MTHU035594

http://purl.bioontology.org/ontology/OMIM/MTHU030948

http://purl.bioontology.org/ontology/OMIM/MTHU035591

http://purl.bioontology.org/ontology/OMIM/MTHU000302

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

http://purl.bioontology.org/ontology/OMIM/MTHU035589

http://purl.bioontology.org/ontology/OMIM/MTHU021693

http://purl.bioontology.org/ontology/OMIM/MTHU033785

http://purl.bioontology.org/ontology/OMIM/MTHU035595

http://purl.bioontology.org/ontology/OMIM/MTHU035593

http://purl.bioontology.org/ontology/OMIM/MTHU035587

http://purl.bioontology.org/ontology/OMIM/MTHU001833

http://purl.bioontology.org/ontology/OMIM/MTHU035590

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU035592

http://purl.bioontology.org/ontology/OMIM/MTHU035588

http://purl.bioontology.org/ontology/OMIM/MTHU000940

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

614307

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C565768 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C565768 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0060602 Human Disease Ontology 123 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C119677 National Cancer Institute Thesaurus LOOM