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retinitis pigmentosa 54

Go to external page http://purl.obolibrary.org/obo/MONDO_0013263

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

This is just here as a test because I lose it

Term information

database cross reference
abbreviation
RP54 [ https://omim.org/entry/613428 MONDO : Lexical DOID : 0110364 ]
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 PCARE gene.
exactMatch
  • https://omim.org/entry/613428
  • http://linkedlifedata.com/resource/umls/id/C3150691
  • http://purl.obolibrary.org/obo/DOID_0110364
excluded from qc check
  • http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
has exact synonym
  • retinitis pigmentosa type 54
  • RP54
  • retinitis pigmentosa 54
  • retinitis pigmentosa caused by mutation in PCARE
  • PCARE retinitis pigmentosa
id
  • MONDO:0013263
term tracker item
  • https://github.com/monarch-initiative/mondo/issues/5693