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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
For additional species annotation, visit the Alliance of Genome Resources.


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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: Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant OMIM
ClinVar
PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16828266 PMID:19807737 PMID:21990111 PMID:23374165 PMID:25326637 PMID:25741868 PMID:27884173 PMID:28492532 NCBI chr16:79,828,321...79,838,212
Ensembl chr16:79,828,324...79,838,212
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Nutritional and Metabolic Diseases 5513
      disease of metabolism 5513
        lipid metabolism disorder 990
          lipid storage disease 533
            neuronal ceroid lipofuscinosis 179
              neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          inherited metabolic disorder 2606
            lipid metabolism disorder 990
              lipid storage disease 533
                neuronal ceroid lipofuscinosis 179
                  neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1
paths to the root