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 |
NCI:C118634 GARD:7224 ORDO:649 UMLS_CUI:C0266526 OMIM:310600 MESH:C537849 SNOMEDCT_US_2022_09_01:15228007 |
| 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 |