Congenital Fibrosis Of The Extraocular Muscles 1
Disease ID: disease_node_20101
Connections displayed (default: 10).
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| Dbxref | MIM:135700 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080143 |
| Data Source | DOID |
| Doid Label | congenital fibrosis of the extraocular muscles 1 |
| Doid Description | A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20101 |
| Doid Id | DOID_0081015 |
| Label | Congenital Fibrosis Of The Extraocular Muscles 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)