WormBase Tree Display for DO_term: DOID:0081017
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| DOID:0081017 | Name | congenital fibrosis of the extraocular muscles 3A | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Parent | Is_a | DOID:0050736 | |||
| DOID:0080143 | |||||
| DB_info | Database | OMIM | disease | 600638 | |
| Attribute_of | Gene_by_orthology | WBGene00006537 | |||
| WBGene00006539 |
