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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:0007165 | Periventricular heterotopia |
| HP:0001659 | Aortic regurgitation |
| HP:0012639 | Abnormal nervous system morphology |
| HP:0002020 | Gastroesophageal reflux |
| HP:0001643 | Patent ductus arteriosus |
| HP:0003834 | Shoulder dislocation |
