Norrie disease

Term ID

DOID:0060844

Synonyms

• atrophia bulborum hereditaria
• Episkopi blindness
• Norrie-Warburg 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. (3)

References

• GARD:7224
• MESH:C537849
• NCI:C118634
• OMIM:310600
• ORDO:649
• SNOMEDCT_US_2023_03_01:15228007
• UMLS_CUI:C0266526

Ontology

Human Disease   ( DOID:0060844 )