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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 58 | ACTA1 | actin alpha 1, skeletal muscle | |
| 59 | ACTA2 | actin alpha 2, smooth muscle | |
| 60 | ACTB | actin beta | |
| 70 | ACTC1 | actin alpha cardiac muscle 1 | |
| 71 | ACTG1 | actin gamma 1 | |
| 3105 | HLA-A | major histocompatibility complex, class I, A | |
| 55107 | ANO1 | anoctamin 1 | |
| 57674 | RNF213 | ring finger protein 213 | |
| 345651 | ACTBL2 | actin beta like 2 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 15015 | H2-Q4 | histocompatibility 2, Q region locus 4 | |
| 15018 | H2-Q7 | histocompatibility 2, Q region locus 7 | |
| 60596 | Gucy1a1 | guanylate cyclase 1, soluble, alpha 1 | |
| 101772 | Ano1 | anoctamin 1, calcium activated chloride channel | |
| 110557 | H2-Q6 | histocompatibility 2, Q region locus 6 | |
| 218194 | Phactr1 | phosphatase and actin regulator 1 | |
| 238880 | Actbl2 | actin, beta-like 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0002119 | Ventriculomegaly |
| HP:0001009 | Telangiectasia |
| HP:0100659 | Abnormal cerebral vascular morphology |
| HP:0001250 | Seizure |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0011834 | Moyamoya phenomenon |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0002326 | Transient ischemic attack |
| HP:0004970 | Ascending tubular aorta aneurysm |
