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retinitis pigmentosa 40 - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:retinitis pigmentosa 40
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Accession:DOID:0110375 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16. (DO)
Synonyms:exact_synonym: RP40;   Rod-cone dysplasia 1;   Rod-cone dysplasia 1a
 broad_synonym: PDE6B-RELATED CONDITION;   PDE6B-RELATED DISORDER
 xref: MIM:613801;   MONDO:0013429;   OMIA:000882;   OMIA:001669

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show annotations for term's descendants           Sort by:
retinitis pigmentosa 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Retinitis pigmentosa 40 ClinVar PMID:25741868 NCBI chr14:1,464,788...1,465,989
Ensembl chr14:1,319,868...1,321,013 		JBrowse link
G Pde6b phosphodiesterase 6B ISO
ISS		 OMIM:613801
ClinVar Annotator: match by term: PDE6B-related disorder | ClinVar Annotator: match by term: Retinitis pigmentosa 40		 OMIM
MouseDO
ClinVar		 PMID:3203739 PMID:3253185 PMID:7599633 PMID:7724547 PMID:8394174 More... NCBI chr14:1,468,302...1,511,435
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Slc49a3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 40 ClinVar NCBI chr14:1,305,091...1,319,723
Ensembl chr14:1,305,680...1,314,132 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    sensory system disease 7381
      eye disease 3728
        fundus dystrophy 784
          retinitis pigmentosa 607
            retinitis pigmentosa 40 3
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        Neurologic Manifestations 10464
          sensory system disease 7381
            eye disease 3728
              eye degenerative disease 930
                retinal degeneration 928
                  fundus dystrophy 784
                    retinitis pigmentosa 607
                      retinitis pigmentosa 40 3
paths to the root