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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 11
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Accession:DOID:0110216 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32. (DO)
Synonyms:exact_synonym: LCA11
 primary_id: MESH:C564140
 alt_id: OMIM:613837;   RDO:0013196
For additional species annotation, visit the Alliance of Genome Resources.


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Leber congenital amaurosis 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by OMIM:613837
ClinVar Annotator: match by term: Leber congenital amaurosis 11
OMIM
ClinVar
PMID:16384941 PMID:17851563 PMID:19480389 PMID:20045992 PMID:20238057 PMID:20718729 PMID:24244438 PMID:25741868 PMID:26558346 PMID:28492532 PMID:30718709 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      Leber congenital amaurosis 73
        Leber congenital amaurosis 11 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                Leber congenital amaurosis 11 1
paths to the root