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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 2
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Accession:DOID:0110726 term browser browse the term
Definition:A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: CLN2;   Jansky-Bielschowsky disease;   neuronal ceroid lipofuscinosis 2 variable age at onset;   neuronal ceroid lipofuscinosis type 2
 related_synonym: LINCL;   NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE
 primary_id: MESH:C566857
 alt_id: OMIA:001472;   OMIM:204500
 xref: GARD:3045;   NCI:C85864;   ORDO:228349
For additional species annotation, visit the Alliance of Genome Resources.



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neuronal ceroid lipofuscinosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis ClinVar PMID:16199547 PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 More... NCBI chr 2:123,822,042...123,882,913
Ensembl chr 2:123,816,614...123,857,971
JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2
OMIM
ClinVar
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10356316 More... NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        lipid metabolism disorder 1157
          lipid storage disease 653
            neuronal ceroid lipofuscinosis 184
              neuronal ceroid lipofuscinosis 2 2
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          inherited metabolic disorder 4673
            lipid metabolism disorder 1157
              lipid storage disease 653
                neuronal ceroid lipofuscinosis 184
                  neuronal ceroid lipofuscinosis 2 2
paths to the root