loading...| Preferred Name | Norrie disease | |
| Synonyms |
Atrophia bulborum hereditaria Oligophrenia Microphthalmus Norrie-Warburg syndrome Whitnall-Norman Syndrome Anderson-Warburg Syndrome Norrie syndrome Congenital Progressive Oculo-Acoustico-Cerebral Degeneration Pseudoglioma Fetal Iritis Syndrome Episkopi blindness Norrie's Disease Pseudoglioma Congenita |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C537849 |
|
| altLabel |
Atrophia bulborum hereditaria Oligophrenia Microphthalmus Norrie-Warburg syndrome Whitnall-Norman Syndrome Anderson-Warburg Syndrome Norrie syndrome Congenital Progressive Oculo-Acoustico-Cerebral Degeneration Pseudoglioma Fetal Iritis Syndrome Episkopi blindness Norrie's Disease Pseudoglioma Congenita |
|
| cui |
C0266526 |
|
| Has mapping qualifier | ||
| HM |
D012162 D013036 D001766/Q000151 D040181 D009422 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D040181 http://purl.bioontology.org/ontology/MESH/D009422 http://purl.bioontology.org/ontology/MESH/D013036 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
87 |
|
| MMR |
20180924 |
|
| notation |
C537849 |
|
| prefLabel |
Norrie disease |
|
| SC |
3 |
|
| Scope Statement |
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 |
|
| TERMUI |
T743963 T842167 T842171 T743966 T743962 T846207 T842168 T743965 T743961 T842170 T842172 T743964 T842169 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T019 |