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inherited retinal dystrophy

Go to external page 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 ]

Synonyms: retinal dystrophy genetic retinal dystrophy familial retinal dystrophy inherited retinal dystrophy hereditary retinal degeneration hereditary retinal dystrophy

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:362.7 (DOID:8500)
  • SCTID:41799005 (MONDO:equivalentTo)
  • MESH:D058499 (Orphanet:71862/e)
  • Orphanet:71862 (MONDO:equivalentTo)
  • GARD:18916 (MONDO:GARD)
  • NCIT:C35625 (MONDO:equivalentTo)
  • MedDRA:10038857 (Orphanet:71862/e)
  • ICD10CM:H35.5 (MONDO:equivalentTo)
  • ICD9:362.75 (MONDO:relatedTo)
  • MEDGEN:208903 (MONDO:equivalentTo)
  • SCTID:314407005 (MONDO:equivalentTo)
  • ICD9:362.70 (MONDO:i2s)
  • NCIT:C35194 (MONDO:equivalentTo)
  • HP:0000556 (MONDO:otherHierarchy)
  • ICD9:362.72 (MONDO:relatedTo)
  • DOID:8500 (MONDO:equivalentTo)
  • DOID:8501 (MONDO:equivalentTo)
  • UMLS:C0854723 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, clingen, ordo_group_of_disorders

ClinGen label
inherited retinal dystrophy

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

exactMatch

http://purl.obolibrary.org/obo/NCIT_C35194

http://linkedlifedata.com/resource/umls/id/C0854723

http://identifiers.org/snomedct/41799005

http://purl.bioontology.org/ontology/ICD10CM/H35.5

http://purl.obolibrary.org/obo/NCIT_C35625

http://www.orpha.net/ORDO/Orphanet_71862

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://identifiers.org/medgen/208903

has broad synonym

fundus dystrophy

id

MONDO:0019118

term tracker item

https://github.com/monarch-initiative/mondo/issues/6877