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MIRAGE
periventricular nodular heterotopia
Summary
- Synonym
-
- periventricular heterotopia
- Definition
- A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
- Super Class
- congenital nervous system abnormality
External Links
- Disease Ontology
- DOID:0050454
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P21333 | Filamin-A | |
| P46821 | Microtubule-associated protein 1B | |
| Q96PU5 | E3 ubiquitin-protein ligase NEDD4-like | |
| Q9Y6D5 | Brefeldin A-inhibited guanine nucleotide-exchange protein 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002021 | Pyloric stenosis |
| HP:0100790 | Hernia |
| HP:0001654 | Abnormal heart valve morphology |
| HP:0004942 | Aortic aneurysm |
| HP:0001382 | Joint hypermobility |
| HP:0002999 | Patellar dislocation |
| HP:0007359 | Focal-onset seizure |
| HP:0001892 | Abnormal bleeding |
| HP:0000963 | Thin skin |
| HP:0002650 | Scoliosis |
