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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
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5155 | PDGFB | platelet derived growth factor subunit B | |
| 5159 | PDGFRB | platelet derived growth factor receptor beta | |
| 6575 | SLC20A2 | solute carrier family 20 member 2 | |
| 57462 | MYORG | myogenesis regulating glycosidase | |
| 58494 | JAM2 | junctional adhesion molecule 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P01127 | Platelet-derived growth factor subunit B | |
| P09619 | Platelet-derived growth factor receptor beta | |
| P57087 | Junctional adhesion molecule B | |
| Q08357 | Sodium-dependent phosphate transporter 2 | |
| Q6NSJ0 | Myogenesis-regulating glycosidase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05622 | Platelet-derived growth factor receptor beta | |
| Q69ZQ1 | Myogenesis-regulating glycosidase | |
| Q80UP8 | Sodium-dependent phosphate transporter 2 |
- 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 |
