Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

inherited retinal dystrophy

Synonyms

fundus dystrophy

hereditary retinal dystrophy

familial retinal dystrophy

hereditary retinal degeneration

genetic retinal dystrophy

retinal dystrophy

inherited retinal dystrophy

Definitions

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

ID

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

closeMatch

http://identifiers.org/meddra/10038857

database_cross_reference

ICD10CM:H35.5

NCIT:C35625

SCTID:314407005

MedDRA:10038857

UMLS:C0854723

NCIT:C35194

SCTID:41799005

ICD9:362.72

ICD9:362.70

ICD9:362.75

Orphanet:71862

MESH:D058499

DOID:8500

DOID:8501

GARD:18916

HP:0000556

ICD9:362.7

definition

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

disease causes dysfunction of

http://purl.obolibrary.org/obo/UBERON_0000966

exactMatch

http://purl.obolibrary.org/obo/DOID_8501

http://identifiers.org/mesh/D058499

http://purl.obolibrary.org/obo/Orphanet_71862

http://purl.obolibrary.org/obo/DOID_8500

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

http://identifiers.org/snomedct/41799005

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

http://identifiers.org/snomedct/314407005

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

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

has_broad_synonym

fundus dystrophy

has_exact_synonym

hereditary retinal dystrophy

familial retinal dystrophy

hereditary retinal degeneration

genetic retinal dystrophy

retinal dystrophy

inherited retinal dystrophy

IAO_0000233

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

id

MONDO:0019118

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

label

inherited retinal dystrophy

notation

MONDO:0019118

preferred label

inherited retinal dystrophy

prefLabel

inherited retinal dystrophy

subClassOf

http://purl.obolibrary.org/obo/MONDO_0024417

http://purl.obolibrary.org/obo/MONDO_0004580

http://purl.obolibrary.org/obo/MONDO_0100545

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