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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 6A
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Accession:DOID:0110729 term browser browse the term
Definition:A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. (DO)
Synonyms:exact_synonym: CLN6;   CLN6A;   neuronal ceroid lipofuscinosis 6;   neuronal ceroid lipofuscinosis 6 variable age of onset
 broad_synonym: neuronal ceroid lipofuscinosis, late infantile variant;   vLINCL
 primary_id: MESH:C566627
 alt_id: OMIA:001443;   OMIM:601780
 xref: GARD:1224;   ORDO:228363
For additional species annotation, visit the Alliance of Genome Resources.



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neuronal ceroid lipofuscinosis 6A 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, 6A | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 PMID:15265688 More... NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 ClinVar PMID:10338095 PMID:11727201 PMID:12673792 PMID:15986423 PMID:20301601 More... NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A ClinVar PMID:12369017 PMID:15221801 PMID:15234149 PMID:15241805 PMID:19405096 More... NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
JBrowse link
G Stx6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576
JBrowse link
G Syp synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18213
    Nutritional and Metabolic Diseases 6779
      disease of metabolism 6779
        lipid metabolism disorder 1176
          lipid storage disease 657
            neuronal ceroid lipofuscinosis 185
              neuronal ceroid lipofuscinosis 6A 8
Path 2
Term Annotations click to browse term
  disease 18213
    Developmental Disease 13067
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11803
        genetic disease 11314
          inherited metabolic disorder 4683
            lipid metabolism disorder 1176
              lipid storage disease 657
                neuronal ceroid lipofuscinosis 185
                  neuronal ceroid lipofuscinosis 6A 8
paths to the root