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RGD uses the Human Disease Ontology (DO, 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
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 16035
    sensory system disease 5232
      eye disease 2665
        retinal disease 783
          Leber congenital amaurosis 73
            Leber congenital amaurosis 11 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal dominant disease 3040
                Leber congenital amaurosis 11 1
paths to the root


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