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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cerebral cavernous malformation 1
Summary
- Definition
- A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21.
- Super Class
- cerebral cavernous malformation
External Links
- Disease Ontology
- DOID:0080491
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002858 | Meningioma |
| HP:0100561 | Spinal cord lesion |
| HP:0002315 | Headache |
| HP:0012721 | Venous malformation |
| HP:0001250 | Seizure |
| HP:0011276 | Vascular skin abnormality |
| HP:0012749 | Focal T2 hypointense brainstem lesion |
| HP:0002572 | Episodic vomiting |
| HP:0001028 | Hemangioma |
| HP:0007872 | Choroidal hemangioma |
