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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9BXS0 | Collagen alpha-1(XXV) chain |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000508 | Ptosis |
| HP:0000542 | Impaired ocular adduction |
| HP:0000473 | Torticollis |
| HP:0000518 | Cataract |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0000512 | Abnormal electroretinogram |
| HP:0000539 | Abnormality of refraction |
| HP:0000486 | Strabismus |
| HP:0001357 | Plagiocephaly |
| HP:0009380 | Finger aplasia |
