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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
For additional species annotation, visit the Alliance of Genome Resources.


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neuronal ceroid lipofuscinosis 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grn granulin precursor ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 11 OMIM
ClinVar
PMID:17698705 PMID:18245784 PMID:18392865 PMID:18723524 PMID:20142524 PMID:20522652 PMID:22312439 PMID:22608501 PMID:23117491 PMID:25525159 PMID:25546130 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29614680 PMID:30279455 PMID:30528841 PMID:31122931 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Nutritional and Metabolic Diseases 5514
      disease of metabolism 5514
        lipid metabolism disorder 990
          lipid storage disease 533
            neuronal ceroid lipofuscinosis 179
              neuronal ceroid lipofuscinosis 11 1
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          inherited metabolic disorder 2607
            lipid metabolism disorder 990
              lipid storage disease 533
                neuronal ceroid lipofuscinosis 179
                  neuronal ceroid lipofuscinosis 11 1
paths to the root