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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 3
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Accession:DOID:0060865 term browser browse the term
Definition:A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21. (DO)
Synonyms:exact_synonym: MAPKAPK3-RELATED CONDITION;   MARTINIQUE CRINKLED RETINAL PIGMENT EPITHELIOPATHY;   MDPT3
 primary_id: OMIM:617111


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patterned macular dystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapkapk3 mitogen-activated protein kinase-activated protein kinase 3 ISO ClinVar Annotator: match by term: MAPKAPK3-related condition | ClinVar Annotator: match by term: Patterned macular dystrophy 3 OMIM
ClinVar		 PMID:25741868 PMID:26744326 PMID:28492532 NCBI chr 9:107,132,125...107,167,082
Ensembl chr 9:107,132,126...107,167,076 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Diseases of the Aged 1282
      macular degeneration 156
        patterned macular dystrophy 4
          patterned macular dystrophy 3 1
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            eye disease 3460
              eye degenerative disease 860
                retinal degeneration 858
                  fundus dystrophy 722
                    dystrophies primarily involving the retinal pigment epithelium 5
                      patterned macular dystrophy 4
                        patterned macular dystrophy 3 1
paths to the root