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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:late-onset retinal degeneration
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Accession:DOID:0060869 term browser browse the term
Definition:A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: LORD;   late-onset retinal degeneration, autosomal dominant
 primary_id: MESH:C565309
 alt_id: MIM:605670
 xref: GARD:4357;   NCI:C202070;   ORDO:67042


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late-onset retinal degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO
ISS		 ClinVar Annotator: match by term: Late-onset retinal degeneration | ClinVar Annotator: match by term: RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT
OMIM:605670
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:12944416 PMID:18648522 PMID:19169412 PMID:22892318 PMID:23289492 More... NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO DNA:missense mutation: :p.C249W (mouse) RGD PMID:17234588 RGD:8552692 NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Late-onset retinal degeneration | ClinVar Annotator: match by term: RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT ClinVar PMID:12944416 PMID:18648522 PMID:19169412 PMID:22892318 PMID:23289492 More... NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		JBrowse link
G Pla2g5 phospholipase A2, group V ISO ClinVar Annotator: match by term: Late-onset retinal degeneration ClinVar NCBI chr 5:151,041,339...151,109,433
Ensembl chr 5:151,041,340...151,062,658 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7331
      eye disease 3696
        retinal disease 1401
          retinal degeneration 854
            late-onset retinal degeneration 4
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Signs and Symptoms 11184
        Neurologic Manifestations 10420
          sensory system disease 7331
            eye disease 3696
              eye degenerative disease 856
                retinal degeneration 854
                  late-onset retinal degeneration 4
paths to the root