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Moyamoya disease
Summary
- Synonym
-
- progressive intracranial arterial occlusion
- Definition
- A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.
- Super Class
- cerebral arterial disease
External Links
- Disease Ontology
- DOID:13099
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04439 | HLA class I histocompatibility antigen, A alpha chain | |
| P62736 | Actin, aortic smooth muscle | |
| Q5XXA6 | Anoctamin-1 | |
| Q63HN8 | E3 ubiquitin-protein ligase RNF213 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001009 | Telangiectasia |
| HP:0002119 | Ventriculomegaly |
| HP:0001250 | Seizure |
| HP:0001249 | Intellectual disability |
| HP:0100659 | Abnormal cerebral vascular morphology |
| HP:0011834 | Moyamoya phenomenon |
| HP:0002326 | Transient ischemic attack |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0004970 | Ascending tubular aorta aneurysm |
