WormBase Tree Display for DO_term: DOID:0050662
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| DOID:0050662 | Name | bestrophinopathy | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | autosomal recessive bestrophinopathy | |||
| Parent | Is_a | DOID:4448 | |||
| DB_info | Database | OMIM | disease | 611809 | |
| Attribute_of | Gene_by_orthology (14) |
