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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
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Accession:DOID:0060863 term browser browse the term
Definition:A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped. (DO)
Synonyms:exact_synonym: butterfly dystrophy of retinal pigment epithelium;   butterfly-shaped pigment dystrophy of the fovea;   butterfly-shaped pigmentary macular dystrophy;   patterned dystrophy of retinal pigment epithelium
 primary_id: MESH:C536309
 alt_id: RDO:0001837
 xref: OMIM:PS169150;   ORDO:99001


show annotations for term's descendants           Sort by:
patterned macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna1 catenin alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691986 NCBI chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chr 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390 		JBrowse link
G Mapkapk3 mitogen-activated protein kinase-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:107,132,125...107,167,082
Ensembl chr 9:107,132,126...107,167,076 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.Y141C(human)
ClinVar Annotator: match by term: Butterfly-shaped pigment dystrophy of the fovea
CTD Direct Evidence: marker/mechanism
DNA:deletion,insertion:cds:
DNA:mutation:splice junction:
DNA:mutation:cds:p.G167D(human)		 ClinVar
CTD
RGD		 PMID:1427912 PMID:1684223 PMID:7493155 PMID:7825692 PMID:7880786 More... RGD:8553221, RGD:8553236, RGD:8553238, RGD:8554864 NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
patterned macular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO
IAGP		 OMIM:169150
ClinVar Annotator: match by term: Patterned macular dystrophy 1		 OMIM
MouseDO
ClinVar		 PMID:1427912 PMID:1684223 PMID:7493155 PMID:7710395 PMID:7825692 More... NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
patterned macular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna1 catenin alpha 1 IAGP
ISO		 OMIM:608970
ClinVar Annotator: match by term: Patterned macular dystrophy 2		 MouseDO
ClinVar
OMIM		 PMID:5442145 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26691986 More... NCBI chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832 		JBrowse link
patterned macular dystrophy 3 term browser
Symbol Object Name Qualifiers 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 1 1
          patterned macular dystrophy 2 1
          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 1 1
                        patterned macular dystrophy 2 1
                        patterned macular dystrophy 3 1
paths to the root