MeSH Browser

MeSH Supplementary: Norrie disease
Unique ID: C537849
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537849
Entry Term(s): Anderson-Warburg Syndrome; Atrophia bulborum hereditaria; Congenital Progressive Oculo-Acoustico-Cerebral Degeneration; Episkopi blindness; Fetal Iritis Syndrome; Norrie syndrome; Norrie's Disease; Norrie-Warburg syndrome; Oligophrenia Microphthalmus; Pseudoglioma; Pseudoglioma Congenita; Whitnall-Norman Syndrome
Registry Numbers: 0
Heading Mapped to: Blindness / congenital; *Nervous System Diseases; *Retinal Degeneration; *Spasms, Infantile; *Genetic Diseases, X-Linked
Frequency: 87
Note: An X-linked recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with PSYCHOSIS, and about one-third of patients develop SENSORINEURAL HEARING LOSS in the second decade. Growth failure and SEIZURES may also occur. Mutations in the NDP gene have been identified. OMIM: 310600
Date of Entry: 2010/08/25
Revision Date: 2018/09/24

Norrie disease Preferred

Concept UI: M0532310
Registry Numbers: 0
Terms: Norrie disease Preferred Term
Term UI T743961
Date02/24/2009
LexicalTag NON
ThesaurusID; Atrophia bulborum hereditaria
Term UI T743962
Date02/24/2009
LexicalTag NON
ThesaurusID; Pseudoglioma
Term UI T743963
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Episkopi blindness
Term UI T743964
Date02/24/2009
LexicalTag NON
ThesaurusID; Norrie syndrome
Term UI T743965
Date02/24/2009
LexicalTag NON
ThesaurusID; Norrie-Warburg syndrome
Term UI T743966
Date02/24/2009
LexicalTag NON
ThesaurusID; Congenital Progressive Oculo-Acoustico-Cerebral Degeneration
Term UI T842167
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Fetal Iritis Syndrome
Term UI T842168
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Norrie's Disease
Term UI T842169
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Oligophrenia Microphthalmus
Term UI T842170
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Pseudoglioma Congenita
Term UI T842171
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Whitnall-Norman Syndrome
Term UI T842172
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Anderson-Warburg Syndrome
Term UI T846207
Date06/26/2013
LexicalTag NON
ThesaurusID GHR (2014)

Norrie disease MeSH Supplementary Concept Data 2025