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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 4
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Accession:DOID:0110720 term browser browse the term
Definition:A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13. (DO)
Synonyms:exact_synonym: CLN4B;   CLN4B disease;   Kufs disease, autosomal dominant;   autosomal dominant neuronal ceroid lipofuscinosis 4B;   autosomal dominant neuronal ceroid lipofuscinosis 4B (Kufs type);   neuronal ceroid lipofuscinosis 4 Parry type;   neuronal ceroid lipofuscinosis 4B
 primary_id: OMIM:162350
 xref: NCI:C128116;   ORDO:228343
For additional species annotation, visit the Alliance of Genome Resources.



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neuronal ceroid lipofuscinosis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Kufs disease autosomal dominant | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4B OMIM
ClinVar
PMID:11489285 PMID:12112194 PMID:21820099 PMID:22073189 PMID:22235333 More... NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    Nutritional and Metabolic Diseases 6810
      disease of metabolism 6810
        lipid metabolism disorder 1178
          lipid storage disease 656
            neuronal ceroid lipofuscinosis 183
              neuronal ceroid lipofuscinosis 4 1
Path 2
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
        genetic disease 11365
          inherited metabolic disorder 4713
            lipid metabolism disorder 1178
              lipid storage disease 656
                neuronal ceroid lipofuscinosis 183
                  neuronal ceroid lipofuscinosis 4 1
paths to the root