loading...| Preferred Name |
alpha-methylacyl-CoA racemase deficiency |
| Synonyms |
AMACR deficiency |
| Definitions |
A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. |
| ID |
http://purl.obolibrary.org/obo/DOID_0060602 |
| database_cross_reference |
MESH:C565768 OMIM:614307 |
| definition |
A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. |
| has exact synonym |
AMACR deficiency |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0060602 |
| label |
alpha-methylacyl-CoA racemase deficiency |
| notation |
DOID:0060602 |
| prefLabel |
alpha-methylacyl-CoA racemase deficiency |
| subClassOf |