Preferred Name | syndromic retinitis pigmentosa | |
Synonyms |
syndromic retinitis pigmentosa syndrome associated with retinitis pigmentosa |
|
Definitions |
A retinitis pigmentosa that is part of a larger syndrome. Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also. |
|
ID |
http://www.ebi.ac.uk/efo/EFO_0700123 |
|
comment |
Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also. |
|
database_cross_reference |
Orphanet:98661 UMLS:CN227834 |
|
definition |
A retinitis pigmentosa that is part of a larger syndrome. |
|
has_exact_synonym |
syndromic retinitis pigmentosa syndrome associated with retinitis pigmentosa |
|
label |
syndromic retinitis pigmentosa |
|
preferred label |
syndromic retinitis pigmentosa |
|
prefixIRI |
efo:EFO_0700123 |
|
prefLabel |
syndromic retinitis pigmentosa |
|
subClassOf |
Create mapping
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://www.ebi.ac.uk/efo/EFO_0700123 | CCONT | SAME_URI | |
http://www.limics.org/hrdo/rdfns#pat_id_13678 | HRDO | LOOM | |
http://www.ebi.ac.uk/efo/EFO_0700123 | CCONT | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0020240 | DOVES | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0020240 | KTAO | LOOM |