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Norrie disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0010691

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. [ Orphanet:649 ]

Synonyms: Norrie-Warburg disease Norrie disease Episkopi blindness atrophia bulborum hereditaria Norrie disease, X-linked recessive

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C537849 (Orphanet:649/e)
  • NCIT:C118634 (MONDO:equivalentTo)
  • DOID:0060844 (MONDO:equivalentTo)
  • GARD:7224 (Orphanet:649)
  • Orphanet:649 (OMIM:310600)
  • MedDRA:10069760 (Orphanet:649/e)
  • ICD10CM:H35.5 (Orphanet:649/ntbt)
  • SCTID:15228007 (MONDO:equivalentTo)
  • ICD9:743.8 (MONDO:relatedTo)
  • NORD:1514 (MONDO:NORD)
  • OMIM:310600 (Orphanet:649/e)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

https://github.com/monarch-initiative/mondo/issues/4521

closeMatch

http://identifiers.org/meddra/10069760

exactMatch

http://identifiers.org/mesh/C537849

http://identifiers.org/snomedct/15228007

http://purl.obolibrary.org/obo/DOID_0060844

https://omim.org/entry/310600

http://purl.obolibrary.org/obo/NCIT_C118634

http://www.orpha.net/ORDO/Orphanet_649

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020119

has related synonym

nd

ND

Norrie syndrome

foetal iritis syndrome

Anderson-Warburg syndrome

pseudoglioma

fetal iritis syndrome

NDP

Norrie-Warburg syndrome

id

MONDO:0010691

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010691

https://rarediseases.info.nih.gov/diseases/7224/norrie-disease

Term relations