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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 98
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Accession:DOID:9009232 term browser browse the term
Definition:An autosomal recessive disorder characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision. Caused by homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12.
Synonyms:exact_synonym: RP98
 xref: MIM:620996


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Retinitis Pigmentosa 98 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 98 OMIM
ClinVar		 PMID:16199547 PMID:20512146 PMID:25741868 PMID:28492532 PMID:39191256 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7326
      eye disease 3695
        Hereditary Eye Diseases 1118
          retinitis pigmentosa 601
            Retinitis Pigmentosa 98 1
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13604
      Signs and Symptoms 11163
        Neurologic Manifestations 10417
          sensory system disease 7326
            eye disease 3695
              retinal disease 1401
                retinal degeneration 854
                  fundus dystrophy 703
                    retinitis pigmentosa 601
                      Retinitis Pigmentosa 98 1
paths to the root