Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital fibrosis of the extraocular muscles 5
Summary
- Definition
- A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25.
- Super Class
- autosomal recessive disease congenital fibrosis of the extraocular muscles
External Links
- Disease Ontology
- DOID:0081020
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000565 | Esotropia |
| HP:0001477 | Compensatory chin elevation |
| HP:0012241 | Levator palpebrae superioris atrophy |
| HP:0000609 | Optic nerve hypoplasia |
| HP:0002013 | Vomiting |
| HP:0000539 | Abnormality of refraction |
| HP:0008527 | Congenital sensorineural hearing impairment |
| HP:0001252 | Hypotonia |
