loading...| Preferred Name | Norrie disease | |
| Synonyms |
fetal iritis syndrome foetal iritis syndrome Norrie syndrome Norrie-Warburg syndrome pseudoglioma Anderson-Warburg syndrome ND NDP nd Norrie disease Episkopi blindness atrophia bulborum hereditaria Norrie disease, X-linked recessive Norrie-Warburg disease |
|
| 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 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0010691 |
|
| database_cross_reference |
DOID:0060844 MESH:C537849 OMIM:310600 ICD10CM:H35.5 MEDGEN:75615 Orphanet:649 MedDRA:10069760 icd11.foundation:676214590 NCIT:C118634 SCTID:15228007 UMLS:C0266526 GARD:7224 ICD9:743.8 NORD:1514 |
|
| 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. |
|
| has_exact_synonym |
Norrie disease Episkopi blindness atrophia bulborum hereditaria Norrie disease, X-linked recessive Norrie-Warburg disease |
|
| has_related_synonym |
fetal iritis syndrome foetal iritis syndrome Norrie syndrome Norrie-Warburg syndrome pseudoglioma Anderson-Warburg syndrome ND NDP nd |
|
| IAO_0000233 | ||
| id |
MONDO:0010691 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Norrie disease |
|
| notation |
MONDO:0010691 |
|
| preferred label |
Norrie disease |
|
| prefLabel |
Norrie disease |
|
| see also |
https://rarediseases.info.nih.gov/diseases/7224/norrie-disease |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/snomedct/15228007 http://purl.obolibrary.org/obo/DOID_0060844 http://identifiers.org/medgen/75615 http://identifiers.org/mesh/C537849 http://linkedlifedata.com/resource/umls/id/C0266526 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/676214590 |
|
| subClassOf | ||
| excluded_subClassOf |