JSON

aniridia

^ http://purl.obolibrary.org/obo/MONDO_0019172

Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia). [ Orphanet:77 ]

Term info

database cross reference
  • NCIT:C84563 (MONDO:exact-label-match)
  • UMLS:C0003076 (Orphanet:77/e)
  • MedDRA:10002532 (Orphanet:77/e)
  • SCTID:69278003 (MONDO:equivalentTo)
  • Orphanet:77 (MONDO:equivalentTo)
  • ICD9:743.45 (MONDO:i2s)
  • GARD:0005816 (MONDO:equivalentTo)
  • DOID:12271 (MONDO:equivalentTo)
  • MESH:D015783 (Orphanet:77/e)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10002532

definition

Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia).

exactMatch

http://identifiers.org/mesh/D015783, http://purl.obolibrary.org/obo/DOID_12271, http://identifiers.org/snomedct/69278003, http://linkedlifedata.com/resource/umls/id/C0003076, http://purl.obolibrary.org/obo/NCIT_C84563, http://purl.obolibrary.org/obo/Orphanet_77

has exact synonym

aplasia of iris

id

MONDO:0019172

seeAlso

https://rarediseases.info.nih.gov/diseases/5816/aniridia