loading...| Preferred Name |
Norrie disease |
|
| Synonyms |
Norrie disease Norrie-Warburg disease atrophia bulborum hereditaria Episkopi blindness Norrie disease, X-linked recessive NDP nd Norrie syndrome pseudoglioma Norrie-Warburg syndrome fetal iritis syndrome Anderson-Warburg syndrome ND |
|
| Definitions |
A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010691 |
|
| has_exact_synonym |
Norrie disease Norrie-Warburg disease atrophia bulborum hereditaria Episkopi blindness Norrie disease, X-linked recessive |
|
| has_related_synonym |
NDP nd Norrie syndrome pseudoglioma Norrie-Warburg syndrome fetal iritis syndrome Anderson-Warburg syndrome ND |
|
| IAO_0000233 | ||
| label |
Norrie disease |
|
| prefixIRI |
MONDO:0010691 |
|
| prefLabel |
Norrie disease |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/7224/norrie-disease |
|
| textual definition |
A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. |
|
| subClassOf |