| Metadata | |
|---|---|
| ID | DOID:0060844 |
| Name | Norrie disease |
| Definition | A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. https://www.ncbi.nlm.nih.gov/pubmed/1303235, https://www.ncbi.nlm.nih.gov/pubmed/13998843, https://www.ncbi.nlm.nih.gov/pubmed/7627181 |
| Xrefs |
SNOMEDCT_US_2023_03_01:15228007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
atrophia bulborum hereditaria [EXACT] Episkopi blindness [EXACT] Norrie-Warburg disease [EXACT] |
| Parent Relationships |
is_a syndrome |