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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
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1717 | DHCR7 | 7-dehydrocholesterol reductase | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 11253 | MAN1B1 | mannosidase alpha class 1B member 1 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 160418 | TMTC3 | transmembrane O-mannosyltransferase targeting cadherins 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P43034 | Platelet-activating factor acetylhydrolase IB subunit beta | |
| Q6ZXV5 | Protein O-mannosyl-transferase TMTC3 | |
| Q9UBM7 | 7-dehydrocholesterol reductase | |
| Q9UKM7 | Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002020 | Gastroesophageal reflux |
| HP:0012639 | Abnormal nervous system morphology |
| HP:0001654 | Abnormal heart valve morphology |
| HP:0003834 | Shoulder dislocation |
| HP:0001382 | Joint hypermobility |
| HP:0002650 | Scoliosis |
| HP:0007165 | Periventricular heterotopia |
| HP:0001659 | Aortic regurgitation |
| HP:0000963 | Thin skin |
| HP:0004942 | Aortic aneurysm |
