Norrie disease

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Information

Disease name: Norrie disease
Disease ID: DOID:0060844
Description: "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1303235, url:https\://www.ncbi.nlm.nih.gov/pubmed/13998843, url:https\://www.ncbi.nlm.nih.gov/pubmed/7627181]

Disease area statistics

Chromosome band

Gene symbol	Chromosome	Start	Stop	The number of variant
NDP	X	43,948,791	43,973,395	12
NDP-AS1	X	43,960,856	43,971,582	2

Annotation

Genes	Mutation	Description	Source	Links