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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


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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 chr30:32,246,394...32,264,251
Ensembl chr30:32,246,411...32,264,240 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Nutritional and Metabolic Diseases 7183
      disease of metabolism 7183
        lipid metabolism disorder 1570
          lipid storage disease 800
            neuronal ceroid lipofuscinosis 212
              neuronal ceroid lipofuscinosis 6B 1
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          inherited metabolic disorder 5527
            lipid metabolism disorder 1570
              lipid storage disease 800
                neuronal ceroid lipofuscinosis 212
                  neuronal ceroid lipofuscinosis 6B 1
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