Terminology Service for NFDI4Health

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. [ ]

Term info

Label

inherited retinal dystrophy

Synonyms
  • familial retinal dystrophy
  • genetic retinal dystrophy
  • hereditary retinal degeneration
  • hereditary retinal dystrophy
  • inherited retinal dystrophy
  • retinal dystrophy
database cross reference
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

exactMatch

http://linkedlifedata.com/resource/umls/id/C0854723, http://purl.obolibrary.org/obo/NCIT_C35194, http://identifiers.org/snomedct/41799005, 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, https://icd.codes/icd10cm/H35.5, http://linkedlifedata.com/resource/umls/id/C0154860

has broad synonym

fundus dystrophy

id

MONDO:0019118