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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:patterned macular dystrophy 1
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Accession:DOID:0060866 term browser browse the term
Definition:A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: MDPT1;   butterfly-shaped pigmentary maculary dystrophy 1
 primary_id: MIM:169150
 alt_id: RDO:9004327


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patterned macular dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRPH2 peripherin 2 ISO ClinVar Annotator: match by term: Patterned macular dystrophy 1 OMIM
ClinVar		 PMID:1427912 PMID:1684223 PMID:3441139 PMID:7493155 PMID:7710395 More... NCBI chr12:11,299,236...11,316,175
Ensembl chr12:11,299,236...11,316,175 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15757
    Diseases of the Aged 1254
      macular degeneration 154
        patterned macular dystrophy 4
          patterned macular dystrophy 1 1
Path 2
Term Annotations click to browse term
  disease 15757
    Pathological Conditions, Signs and Symptoms 12320
      Signs and Symptoms 10314
        Neurologic Manifestations 9989
          sensory system disease 7033
            eye disease 3620
              eye degenerative disease 910
                retinal degeneration 908
                  fundus dystrophy 782
                    dystrophies primarily involving the retinal pigment epithelium 5
                      patterned macular dystrophy 4
                        patterned macular dystrophy 1 1
paths to the root