Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene. [ MONDO:patterns/disease_series_by_gene ]

This is just here as a test because I lose it

Term information

database cross reference
abbreviation
RP46 [ https://omim.org/entry/612572 MONDO:Lexical DOID:0110409 ]

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/C2675496

http://identifiers.org/omim/612572

http://purl.obolibrary.org/obo/DOID_0110409

http://identifiers.org/mesh/C567249

has exact synonym

retinitis pigmentosa type 46

RP46

retinitis pigmentosa caused by mutation in IDH3B

IDH3B retinitis pigmentosa

retinitis pigmentosa 46

has related synonym

retinitis pigmentosa, autosomal recessive, Idh3B-related

id

MONDO:0012943