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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 6B
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Accession:DOID:0110730 term browser browse the term
Definition:A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. (DO)
Synonyms:exact_synonym: CLN4A;   CLN6B;   neuronal ceroid lipofuscinosis 4A;   neuronal ceroid lipofuscinosis 4A (Kufs type), autosomal recessive;   neuronal ceroid lipofuscinosis 4A, autosomal recessive
 primary_id: OMIM:204300
 xref: ORDO:228340
For additional species annotation, visit the Alliance of Genome Resources.



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neuronal ceroid lipofuscinosis 6B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 4A autosomal recessive | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4A OMIM
ClinVar
PMID:3284607 PMID:12673792 PMID:12815591 PMID:14997940 PMID:18846690 More... NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    Nutritional and Metabolic Diseases 6748
      disease of metabolism 6748
        lipid metabolism disorder 1148
          lipid storage disease 645
            neuronal ceroid lipofuscinosis 183
              neuronal ceroid lipofuscinosis 6B 1
Path 2
Term Annotations click to browse term
  disease 18110
    Developmental Disease 12861
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11545
        genetic disease 11079
          inherited metabolic disorder 4660
            lipid metabolism disorder 1148
              lipid storage disease 645
                neuronal ceroid lipofuscinosis 183
                  neuronal ceroid lipofuscinosis 6B 1
paths to the root