Congenital Fibrosis Of The Extraocular Muscles 3A
Disease ID: disease_node_20099
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| Dbxref | MIM:600638 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080143 |
| Data Source | DOID |
| Doid Label | congenital fibrosis of the extraocular muscles 3A |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20099 |
| Doid Id | DOID_0081017 |
| Label | Congenital Fibrosis Of The Extraocular Muscles 3A |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)