ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY

AMACRD

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

AMACRD

AMACR DEFICIENCY

C3280428

5p13.2-q11.1

CBAS4

AMACRD

AMACR

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000926

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU055789

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU001772

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

Phenotype description, molecular basis known.

614307

3

pound

ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY

Acute encephalopathic episodes may occur [MISCELLANEOUS]

Variable phenotype [MISCELLANEOUS]

Caused by mutation in the alpha-methylacyl-CoA racemase gene (AMACR, 604489.0001) [MOLECULAR BASIS]

Onset usually in second decade [MISCELLANEOUS]

T047