loading...| Preferred Name |
Norrie disease |
|
| Synonyms |
atrophia bulborum hereditaria |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0060844 |
|
| database_cross_reference |
MESH:C537849 OMIM:310600 NCI:C118634 UMLS_CUI:C0266526 SNOMEDCT_US_2023_03_01:15228007 GARD:7224 ORDO:649 |
|
| 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. |
|
| has exact synonym |
atrophia bulborum hereditaria Norrie-Warburg disease Episkopi blindness |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0060844 |
|
| in_subset | ||
| label |
Norrie disease |
|
| notation |
DOID:0060844 |
|
| prefLabel |
Norrie disease |
|
| subClassOf |