WormBase Tree Display for DO_term: DOID:0050664
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| DOID:0050664 | Name | Bietti crystalline corneoretinal dystrophy | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | Bietti's crystalline dystrophy | |||
| Parent | Is_a | DOID:8466 | |||
| DB_info | Database | OMIM | disease | 210370 | |
| Disease_model_annotation | WBDOannot00000111 | ||||
| WBDOannot00000634 | |||||
| Attribute_of | Gene_by_biology | WBGene00010354 | |||
| WBGene00021200 | |||||
| Gene_by_orthology | WBGene00007140 | ||||
| WBGene00008499 | |||||
| WBGene00009226 | |||||
| WBGene00010354 | |||||
| WBGene00013381 | |||||
| WBGene00013585 | |||||
| WBGene00016147 | |||||
| WBGene00021200 | |||||
| WBGene00021412 | |||||
| Disease_model_variation | WBVar00251556 | ||||
| WBVar00251973 |
