Congenital Fibrosis Of The Extraocular Muscles 2
Disease ID: disease_node_20100
Connections displayed (default: 10).
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| Dbxref | MIM:602078 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080143 |
| Data Source | DOID |
| Doid Label | congenital fibrosis of the extraocular muscles 2 |
| Doid Description | A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20100 |
| Doid Id | DOID_0081016 |
| Label | Congenital Fibrosis Of The Extraocular Muscles 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)