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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:retinal macular dystrophy
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Accession:DOID:0070438 term browser browse the term
Definition:A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees. (DO)
Synonyms:exact_synonym: MCDR
 xref: MIM:PS136550


show annotations for term's descendants           Sort by:
retinal macular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PROM1 prominin 1 IAGP ClinVar Annotator: match by term: Macular dystrophy, retinal ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
North Carolina macular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC111365204 CCNC and PRDM13 intergenic region DNase I hypersensitve site DHS6S1 IAGP ClinVar Annotator: match by term: North Carolina macular dystrophy
ClinVar Annotator: match by term: Macular dystrophy retinal 1 North Carolina type		 OMIM
ClinVar		 PMID:9238090 PMID:9801042 PMID:9924305 PMID:10617775 PMID:25741868 More... NCBI chr 6:99,592,885...99,593,339 JBrowse link
G PRDM13 PR/SET domain 13 IAGP ClinVar Annotator: match by term: Macular dystrophy retinal 1 North Carolina type
ClinVar Annotator: match by term: North Carolina macular dystrophy		 ClinVar PMID:9238090 PMID:9801042 PMID:9924305 PMID:10617775 PMID:25741868 More... NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578 		JBrowse link
retinal macular dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PROM1 prominin 1 IAGP
EXP		 ClinVar Annotator: match by term: Retinal macular dystrophy type 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 More... NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
retinal macular dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLEC3B C-type lectin domain family 3 member B IAGP ClinVar Annotator: match by term: Macular dystrophy, retinal, 4 OMIM
ClinVar		 PMID:35331648 NCBI chr 3:45,026,303...45,036,071
Ensembl chr 3:45,001,548...45,036,071 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97394
    Diseases of the Aged 2967
      macular degeneration 635
        retinal macular dystrophy 4
          North Carolina macular dystrophy 2
          retinal macular dystrophy 2 1
          retinal macular dystrophy 3 0
          retinal macular dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 97394
    Pathological Conditions, Signs and Symptoms 53660
      Signs and Symptoms 35229
        Neurologic Manifestations 31893
          sensory system disease 20954
            eye disease 7645
              retinal disease 2906
                retinal degeneration 1643
                  macular degeneration 635
                    retinal macular dystrophy 4
                      North Carolina macular dystrophy 2
                      retinal macular dystrophy 2 1
                      retinal macular dystrophy 3 0
                      retinal macular dystrophy 4 1
paths to the root