JSON

inherited retinal dystrophy

^ http://purl.obolibrary.org/obo/MONDO_0019118

An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. [ MONDO:patterns/hereditary ]

Term info

database cross reference
  • Orphanet:71862 (MONDO:equivalentTo)
  • SCTID:41799005 (MONDO:equivalentTo)
  • UMLS:C0854723 (Orphanet:71862/e)
  • ICD9:362.7 (DOID:8500)
  • NCIT:C35194 (MONDO:equivalentTo)
  • ICD9:362.75 (MONDO:relatedTo)
  • DOID:8500 (MONDO:equivalentTo)
  • ICD9:362.72 (MONDO:relatedTo)
  • ICD10CM:H35.5 (MONDO:equivalentTo)
  • UMLS:C0154860 (NCIT:C35194)
  • HP:0000556 (MONDO:otherHierarchy)
  • MedDRA:10038857 (Orphanet:71862/e)
  • SCTID:314407005 (MONDO:equivalentTo)
  • NCIT:C35625 (MONDO:equivalentTo)
  • MESH:D058499 (Orphanet:71862/e)
  • DOID:8501 (MONDO:equivalentTo)
  • ICD9:362.70 (MONDO:i2s)
Subsets

disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10038857

comment

Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same

definition

An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0854723, http://purl.obolibrary.org/obo/NCIT_C35194, http://identifiers.org/snomedct/41799005, http://purl.bioontology.org/ontology/ICD10CM/H35.5, http://purl.obolibrary.org/obo/NCIT_C35625, http://purl.obolibrary.org/obo/DOID_8501, http://purl.obolibrary.org/obo/DOID_8500, http://identifiers.org/mesh/D058499, http://identifiers.org/snomedct/314407005, http://purl.obolibrary.org/obo/Orphanet_71862, http://linkedlifedata.com/resource/umls/id/C0154860

has broad synonym

fundus dystrophy

has exact synonym

retinal dystrophy, genetic retinal dystrophy, familial retinal dystrophy, hereditary retinal degeneration, inherited retinal dystrophy, hereditary retinal dystrophy

id

MONDO:0019118