Preferred Name | Norrie disease | |
Synonyms |
Atrophia bulborum hereditaria Norrie-Warburg disease Episkopi blindness |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_190 |
|
ageOfDeath |
Normal |
|
ageOfOnset |
Neonatal/infancy |
|
altLabel |
Atrophia bulborum hereditaria Norrie-Warburg disease Episkopi blindness |
|
id_MedDRA |
10069760 |
|
id_Medline |
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Norrie+disease%5Btw%5D |
|
id_MeSH |
C537849 |
|
id_MIM |
310600 |
|
id_OMS |
H35.5 |
|
id_Orpha |
649 |
|
id_UMLS |
C0266526 |
|
inheritance |
X-linked recessive |
|
patType |
malformation syndrome |
|
prefixIRI |
hrdo:pat_id_190 |
|
prefLabel |
Norrie disease |
|
prevalence |
Unknown |
|
subClassOf |
Create mapping