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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
alpha-methylacyl-CoA racemase deficiency
Summary
- Synonym
-
- AMACR deficiency
- 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.
- Super Class
- peroxisomal disease
External Links
- Disease Ontology
- DOID:0060602
- Mondo Disease Ontology
- MeSH
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0200084 | Giant cell hepatitis |
| HP:0001298 | Encephalopathy |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0000135 | Hypogonadism |
| HP:0001328 | Specific learning disability |
| HP:0003201 | Rhabdomyolysis |
| HP:0000580 | Pigmentary retinopathy |
| HP:0011892 | Decreased circulating vitamin K concentration |
| HP:0001250 | Seizure |
| HP:0002401 | Stroke-like episode |
