WormBase Tree Display for DO_term: DOID:0111437
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| DOID:0111437 | Name | optic atrophy 7 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1. | ||||
| Synonym | Exact | OPA7 | |||
| optic atrophy 7 with or without auditory neuropathy | |||||
| Parent | Is_a | DOID:5723 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 612989 |
