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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:Leber congenital amaurosis 13
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Accession:DOID:0110330 term browser browse the term
Definition:A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. (DO)
Synonyms:exact_synonym: LCA13
 narrow_synonym: RETINITIS PIGMENTOSA 53;   RP53
 primary_id: MESH:C567197
 alt_id: OMIM:612712;   RDO:0015338
For additional species annotation, visit the Alliance of Genome Resources.


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Leber congenital amaurosis 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by OMIM:612712
ClinVar Annotator: match by term: Retinitis pigmentosa 53
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber congenital amaurosis 13
OMIM
ClinVar
CTD
PMID:15258582, PMID:15322982, PMID:16269441, PMID:17197551, PMID:17389517, PMID:17512964, PMID:17964524, PMID:18779497, PMID:19011012, PMID:19140180, PMID:20006610, PMID:20079931, PMID:20683928, PMID:20736127, PMID:21151602, PMID:22065924, PMID:23105016, PMID:23661369, PMID:23847139, PMID:23900199, PMID:24265693, PMID:24474277, PMID:24625443, PMID:25133751, PMID:25412400, PMID:25494902, PMID:25526675, PMID:25561519, PMID:25741868, PMID:25910913, PMID:26047050, PMID:26103963, PMID:26124963, PMID:26306921, PMID:26355662, PMID:26497376, PMID:26667666, PMID:27032803, PMID:27208204, PMID:28041643, PMID:28157192, PMID:28418496, PMID:28471114, PMID:28492532, PMID:28512305, PMID:28559085, PMID:29178642, PMID:29186038, PMID:30134391, PMID:30311386, PMID:30372751, PMID:30718709, PMID:32014858 NCBI chr 6:102,392,828...102,405,750
Ensembl chr 6:102,392,828...102,405,750
JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:15258582, PMID:15322982, PMID:16269441, PMID:17389517, PMID:17512964, PMID:18779497, PMID:19011012, PMID:20079931, PMID:20683928, PMID:20736127, PMID:21151602, PMID:22065924, PMID:23847139, PMID:24265693, PMID:24474277, PMID:24625443, PMID:25412400, PMID:25494902, PMID:25561519, PMID:25741868, PMID:25910913, PMID:26047050, PMID:26103963, PMID:26667666, PMID:27208204, PMID:28041643, PMID:28492532, PMID:28512305, PMID:28559085, PMID:30311386 NCBI chr 6:102,409,235...102,472,962
Ensembl chr 6:102,409,881...102,472,926
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      eye disease 2652
        retinal disease 780
          Leber congenital amaurosis 72
            Leber congenital amaurosis 13 2
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                Leber congenital amaurosis 13 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.