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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 13
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Accession:DOID:0110727 term browser browse the term
Definition:A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: CLN13;   neuronal ceroid lipofuscinosis 13 Kufs type
 primary_id: OMIM:615362
 xref: ICD10CM:E75.4;   ORDO:352709
For additional species annotation, visit the Alliance of Genome Resources.


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neuronal ceroid lipofuscinosis 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsf cathepsin F ISO ClinVar Annotator: match by OMIM:615362
ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 13
OMIM
ClinVar
PMID:16199547 PMID:17828264 PMID:23297359 PMID:25274848 PMID:25741868 PMID:26467025 PMID:27120077 PMID:28492532 NCBI chr 1:220,114,228...220,119,976
Ensembl chr 1:220,114,228...220,119,976
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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 13 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 13 1
paths to the root