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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
 broad_synonym: IMPDH1-RELATED CONDITION
 primary_id: MESH:C564140
 alt_id: OMIM:613837;   RDO:0013196


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber congenital amaurosis 11		 OMIM
CTD
ClinVar		 PMID:16384941 PMID:17851563 PMID:19480389 PMID:20045992 PMID:20238057 More... NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4964
      Leber congenital amaurosis 132
        Leber congenital amaurosis 11 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              retinal disease 1224
                Leber congenital amaurosis 132
                  Leber congenital amaurosis 11 1
paths to the root