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 3A
Summary
- Definition
- A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.
- Super Class
- autosomal dominant disease congenital fibrosis of the extraocular muscles
External Links
- Disease Ontology
- DOID:0081017
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0000473 | Torticollis |
| HP:0001491 | Congenital fibrosis of extraocular muscles |
| HP:0000577 | Exotropia |
| HP:0011347 | Abnormality of ocular abduction |
| HP:0000518 | Cataract |
| HP:0007831 | Nonprogressive restrictive external ophthalmoplegia |
| HP:0001249 | Intellectual disability |
| HP:0000508 | Ptosis |
| HP:0001357 | Plagiocephaly |
