Experimental Factor Ontology

Last uploaded: October 15, 2024
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

http://purl.obolibrary.org/obo/MONDO_0019200

http://purl.obolibrary.org/obo/MONDO_0002254

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