WormBase Tree Display for DO_term: DOID:0090006
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| DOID:0090006 | Name | renal coloboma syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. | ||||
| Synonym | Exact | CAKUT with or without ocular abnormalities | |||
| coloboma of optic nerve with renal disease | |||||
| congenital anomalies of the kidney and urinary tract with or without ocular abnormalities | |||||
| optic coloboma, vesicoureteral reflux and renal anomalies | |||||
| papillo-renal syndrome, optic nerve coloboma with renal disease | |||||
| papillorenal syndrome | |||||
| renal-coloboma syndrome with macular abnormalities | |||||
| Parent | Is_a | DOID:225 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 120330 | |
| Attribute_of | Gene_by_orthology | WBGene00001204 | |||
| WBGene00003938 |
