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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 term: Neuronal ceroid lipofuscinosis 13 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17828264 PMID:23297359 More... NCBI chr 1:202,152,777...202,158,525
Ensembl chr 1:202,152,728...202,158,525 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Nutritional and Metabolic Diseases 6747
      disease of metabolism 6747
        lipid metabolism disorder 1149
          lipid storage disease 645
            neuronal ceroid lipofuscinosis 183
              neuronal ceroid lipofuscinosis 13 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          inherited metabolic disorder 4659
            lipid metabolism disorder 1149
              lipid storage disease 645
                neuronal ceroid lipofuscinosis 183
                  neuronal ceroid lipofuscinosis 13 1
paths to the root