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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 with or without situs inversus
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Accession:DOID:0110419 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13. (DO)
Synonyms:exact_synonym: RP82;   retinitis pigmentosa 82;   retinitis pigmentosa 82 with or without situs inversus
 narrow_synonym: retinitis pigmentosa without situs inversus
 primary_id: OMIM:615434
 alt_id: RDO:9000947
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa with or without situs inversus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl2bp ADP-ribosylation factor like GTPase 2 binding protein ISO ClinVar Annotator: match by OMIM:615434
ClinVar Annotator: match by term: Retinitis pigmentosa 82 with or without situs inversus
OMIM
ClinVar
PMID:23849777 PMID:27790702 PMID:28492532 NCBI chr19:10,753,670...10,763,247
Ensembl chr19:10,753,681...10,763,110
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      visceral heterotaxy 91
        situs inversus 53
          retinitis pigmentosa with or without situs inversus 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          eye disease 2673
            eye degenerative disease 467
              retinal degeneration 465
                fundus dystrophy 334
                  retinitis pigmentosa 269
                    retinitis pigmentosa with or without situs inversus 1
paths to the root