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Mondo Disease Ontology
Last uploaded:
November 25, 2024
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| Preferred Name | retinitis pigmentosa 30 | |
| Synonyms |
macular Degeneration RP 30 FSCN2 retinitis pigmentosa retinitis pigmentosa caused by mutation in FSCN2 retinitis pigmentosa 30 retinitis pigmentosa type 30 RP30 |
|
| Definitions |
Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0011935 |
|
| database_cross_reference |
UMLS:C1842816 ICD10CM:H35.5 GARD:10401 OMIM:607921 DOID:0110406 MEDGEN:334614
|
|
| definition |
Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.
|
|
| excluded_from_qc_check |
http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql |
|
| has_exact_synonym |
FSCN2 retinitis pigmentosa retinitis pigmentosa caused by mutation in FSCN2 retinitis pigmentosa 30 retinitis pigmentosa type 30 RP30
|
|
| has_related_synonym |
macular Degeneration RP 30
|
|
| id |
MONDO:0011935
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#rare |
|
| label |
retinitis pigmentosa 30
|
|
| notation |
MONDO:0011935
|
|
| prefLabel |
retinitis pigmentosa 30
|
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C1842816 |
|
| treeView | ||
| subClassOf |
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