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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:neuronal ceroid lipofuscinosis 11
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Accession:DOID:0110732 term browser browse the term
Definition:A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. (DO)
Synonyms:exact_synonym: CLN11
 primary_id: OMIM:614706
 xref: ORDO:314629


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        lipid metabolism disorder 1741
          lipid storage disease 832
            neuronal ceroid lipofuscinosis 213
              neuronal ceroid lipofuscinosis 11 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          inherited metabolic disorder 6257
            lipid metabolism disorder 1741
              lipid storage disease 832
                neuronal ceroid lipofuscinosis 213
                  neuronal ceroid lipofuscinosis 11 1
paths to the root