loading...| Preferred Name | inherited retinal dystrophy | |
| Synonyms |
fundus dystrophy inherited retinal dystrophy genetic retinal dystrophy hereditary retinal degeneration hereditary retinal dystrophy retinal dystrophy familial retinal dystrophy |
|
| Definitions |
An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019118 |
|
| comment |
Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0019118 |
|
| database_cross_reference |
HP:0000556 MESH:D058499 DOID:8500 SCTID:314407005 Orphanet:71862 ICD10CM:H35.5 NCIT:C35625 ICD9:362.7 UMLS:C0854723 NCIT:C35194 GARD:18916 SCTID:41799005 ICD9:362.70 MEDGEN:208903 ICD9:362.72 ICD9:362.75 DOID:8501 MedDRA:10038857 |
|
| definition |
An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. |
|
| has_broad_synonym |
fundus dystrophy |
|
| has_exact_synonym |
inherited retinal dystrophy genetic retinal dystrophy hereditary retinal degeneration hereditary retinal dystrophy retinal dystrophy familial retinal dystrophy |
|
| IAO_0000233 | ||
| id |
MONDO:0019118 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
inherited retinal dystrophy |
|
| notation |
MONDO:0019118 |
|
| prefLabel |
inherited retinal dystrophy |
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| 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 |
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| treeView |
http://purl.obolibrary.org/obo/MONDO_0024417 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0024417 |