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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 8 northern epilepsy variant
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Accession:DOID:0110724 term browser browse the term
Definition:A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. (DO)
Synonyms:exact_synonym: EPMR;   Northern epilepsy;   Northern epilepsy syndrome;   Northern epilepsy variant;   northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant;   progressive epilepsy with mental retardation;   progressive epilepsy with mental retardation, northern epilepsy;   progressive epilepsy-intellectual disability syndrome, Finnish type
 primary_id: OMIM:610003
 xref: GARD:2163;   GARD:4010;   ORDO:1947


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neuronal ceroid lipofuscinosis 8 northern epilepsy variant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln8 CLN8, transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant OMIM
ClinVar		 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 More... NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        lipid metabolism disorder 1735
          lipid storage disease 830
            neuronal ceroid lipofuscinosis 213
              neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            lipid metabolism disorder 1735
              lipid storage disease 830
                neuronal ceroid lipofuscinosis 213
                  neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1
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