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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 62
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Accession:DOID:0110380 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2. (DO)
Synonyms:exact_synonym: RP62
 primary_id: OMIM:614181
 alt_id: RDO:9000508
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 62 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mak male germ cell-associated kinase ISO ClinVar Annotator: match by OMIM:614181
ClinVar Annotator: match by term: Retinitis pigmentosa 62
OMIM
ClinVar
PMID:21825139 PMID:21835304 PMID:25741868 PMID:28492532 NCBI chr17:21,531,651...21,567,742
Ensembl chr17:21,521,505...21,568,440
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      eye disease 2591
        fundus dystrophy 333
          retinitis pigmentosa 267
            retinitis pigmentosa 62 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          eye disease 2591
            retinal disease 777
              retinal degeneration 466
                fundus dystrophy 333
                  retinitis pigmentosa 267
                    retinitis pigmentosa 62 1
paths to the root