loading...| 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 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0019118 |
|
| 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 MEDGEN:208903 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 | ||
| 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 | ||
| id |
MONDO:0019118 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen 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 |
|
| skos_closeMatch | ||
| skos_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://identifiers.org/medgen/208903 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0024417 |