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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
basal ganglia calcification
Summary
- Synonym
-
- Fahr disease
- Definition
- A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.
- Super Class
- basal ganglia disease
External Links
- Disease Ontology
- DOID:0060230
- Mondo Disease Ontology
- MeSH
- UMLS
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6NSJ0 | Myogenesis-regulating glycosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001511 | Intrauterine growth retardation |
| HP:0002240 | Hepatomegaly |
| HP:0001250 | Seizure |
| HP:0002514 | Cerebral calcification |
| HP:0001933 | Subcutaneous hemorrhage |
| HP:0000252 | Microcephaly |
| HP:0002269 | Abnormality of neuronal migration |
| HP:0001873 | Thrombocytopenia |
| HP:0007957 | Corneal opacity |
| HP:0001392 | Abnormality of the liver |
