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cerebral cavernous malformation 3
Summary
- Definition
- A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1.
- Super Class
- cerebral cavernous malformation
External Links
- Disease Ontology
- DOID:0060671
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012748 | Focal T2 hyperintense brainstem lesion |
| HP:0002516 | Increased intracranial pressure |
| HP:0100543 | Cognitive impairment |
| HP:0002650 | Scoliosis |
| HP:0001342 | Cerebral hemorrhage |
| HP:0011513 | Retinal cavernous hemangioma |
