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bilateral optic nerve hypoplasia
Summary
- Synonym
-
- ONH
- familial bilateral optic nerve hypoplasia
- isolated optic nerve hypoplasia/aplasia
- Definition
- An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
- Super Class
- autosomal dominant disease optic nerve disease
External Links
- Disease Ontology
- DOID:0111531
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 220 | ALDH1A3 | aldehyde dehydrogenase 1 family member A3 | |
| 1717 | DHCR7 | 7-dehydrocholesterol reductase | |
| 2218 | FKTN | fukutin | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 79147 | FKRP | fukutin related protein | |
| 79644 | SRD5A3 | steroid 5 alpha-reductase 3 |
Related Glycoprotein
