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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:Stargardt Disease 1
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Accession:DOID:9006630 term browser browse the term
Synonyms:exact_synonym: Macular dystrophy with flecks type 1;   STGD1;   Stargardt disease, recessive
 related_synonym: FFM;   GENERALIZED CHORIOCAPILLARIS DYSTROPHY;   fundus flavimaculatus
 xref: MIM:248200;   MONDO:0009549

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Stargardt Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 susceptibility
treatment		 ISO ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1
DNA:mutations:multiple:
DNA:mutation:exon:c.2041C>T(human)		 OMIM
ClinVar
RGD		 PMID:248200 PMID:8533764 PMID:9054934 PMID:9295268 PMID:9466990 More... RGD:7815045 RGD:7815046 RGD:7829716 NCBI chrNW_004955423:612,098...738,702
Ensembl chrNW_004955423:612,098...736,035 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10854112 PMID:16754206 PMID:18179881 PMID:21109774 PMID:21192766 More... NCBI chrNW_004955511:5,773,025...5,783,800
Ensembl chrNW_004955511:5,773,670...5,780,540 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1		 ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 More... NCBI chrNW_004955417:4,164,328...4,288,516
Ensembl chrNW_004955417:4,168,766...4,300,437 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:8333273 PMID:18235024 PMID:30718709 NCBI chrNW_004955434:7,122,287...7,133,737
Ensembl chrNW_004955434:7,122,287...7,133,737 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25326637 PMID:28492532 NCBI chrNW_004955526:4,330,388...4,465,810
Ensembl chrNW_004955526:4,330,388...4,465,528 		JBrowse link
G LOC102007967 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 ClinVar PMID:12215968 PMID:12910490 PMID:17314340 PMID:19162478 PMID:19389488 More... NCBI chrNW_004955453:14,762,237...14,766,693
Ensembl chrNW_004955453:14,762,237...14,766,383 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 More... NCBI chrNW_004955428:13,519,285...13,548,007
Ensembl chrNW_004955428:13,519,277...13,544,695 		JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:11440988 PMID:11440989 PMID:20157015 PMID:20952381 PMID:23384603 More... NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10205271 PMID:16199547 PMID:17605048 PMID:19718270 PMID:24154662 More... NCBI chrNW_004955480:7,955,501...8,059,537
Ensembl chrNW_004955480:7,961,389...8,059,589 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1		 ClinVar PMID:279751 PMID:4142662 PMID:7493155 PMID:7519821 PMID:7825692 More... NCBI chrNW_004955437:8,784,211...8,794,789
Ensembl chrNW_004955437:8,782,183...8,795,017 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004955429:17,787,337...17,791,982
Ensembl chrNW_004955429:17,787,337...17,791,982 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar NCBI chrNW_004955403:52,180,612...52,200,569 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14315
    sensory system disease 6525
      eye disease 3374
        Hereditary Eye Diseases 1053
          Retinal Dystrophy, Early Onset Severe 13
            Stargardt Disease 1 12
Path 2
Term Annotations click to browse term
  disease 14315
    disease of anatomical entity 14022
      nervous system disease 12335
        Neurologic Manifestations 9191
          sensory system disease 6525
            eye disease 3374
              eye degenerative disease 789
                retinal degeneration 788
                  macular degeneration 145
                    degeneration of macula and posterior pole 70
                      age related macular degeneration 43
                        Stargardt disease 25
                          Stargardt Disease 1 12
paths to the root