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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 6
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Accession:DOID:0110729 term browser browse the term
Definition:A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. (DO)
Synonyms:exact_synonym: CLN6;   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.


show annotations for term's descendants           Sort by:
 
neuronal ceroid lipofuscinosis 6 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: Neuronal ceroid lipofuscinosis 6
ClinVar Annotator: match by OMIM:601780
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 6
OMIM
ClinVar
CTD
PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 PMID:15265688 PMID:15996215 PMID:17453415 PMID:18414213 PMID:18684116 PMID:18846690 PMID:19135028 PMID:19201763 PMID:21359198 PMID:21549341 PMID:21990111 PMID:23516525 PMID:23735787 PMID:25359263 PMID:25401298 PMID:25590979 PMID:25741868 PMID:26075876 PMID:26206375 PMID:26374131 PMID:26467025 PMID:27903347 PMID:28492532 PMID:28587997 PMID:28831385 PMID:30019023 PMID:30285654 PMID:30561534 PMID:31489614 NCBI chr 8:67,733,215...67,748,170
Ensembl chr 8:67,733,215...67,748,172
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 ClinVar PMID:12369017 PMID:15221801 PMID:15234149 PMID:15241805 PMID:19405096 PMID:23252888 PMID:23430884 PMID:24767253 PMID:25741868 PMID:28492532 NCBI chr 1:170,383,682...170,387,525
Ensembl chr 1:170,383,682...170,387,524
JBrowse link
G Stx6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr13:72,804,218...72,850,757
Ensembl chr13:72,804,218...72,852,967
JBrowse link
G Syp synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr  X:15,694,699...15,709,244
Ensembl chr  X:15,695,566...15,707,436
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Nutritional and Metabolic Diseases 5514
      disease of metabolism 5514
        lipid metabolism disorder 990
          lipid storage disease 533
            neuronal ceroid lipofuscinosis 179
              neuronal ceroid lipofuscinosis 6 7
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          inherited metabolic disorder 2607
            lipid metabolism disorder 990
              lipid storage disease 533
                neuronal ceroid lipofuscinosis 179
                  neuronal ceroid lipofuscinosis 6 7
paths to the root