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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 3
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Accession:DOID:0110731 term browser browse the term
Definition:A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. (DO)
Synonyms:exact_synonym: Batten Spielmeyer Vogt disease;   Batten disease;   CLN3;   CLN3-related neuronal ceroid lipofuscinoses;   CLN3-related neuronal ceroid lipofuscinosis;   JNCL;   Juvenile Batten Disease;   Juvenile Batten Diseases;   Juvenile Neuronal Ceroid Lipofuscinosis;   Spielmeyer Sjogren disease;   Spielmeyer-Sjogren diseases;   Vogt-Spielmeyer disease;   Vogt-Spielmeyer diseases;   juvenile neuronal ceroid lipofuscinosis 3;   neuronal ceroid lipofuscinosis, juvenile type
 narrow_synonym: protracted neuronal ceroid lipofuscinosis 3
 primary_id: OMIM:204200
 xref: GARD:5897;   ORDO:228346
For additional species annotation, visit the Alliance of Genome Resources.



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neuronal ceroid lipofuscinosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn3 chloride voltage-gated channel 3 ISS OMIM:204200 MouseDO NCBI chr16:29,127,419...29,200,133
Ensembl chr16:29,127,419...29,200,119
JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISS OMIM:204200 MouseDO NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: CLN3-Related Neuronal Ceroid-Lipofuscinosis | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 3, protracted | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 | ClinVar Annotator: match by term: Spielmeyer Sjogren disease OMIM
ClinVar
PMID:7553855 PMID:7887420 PMID:9004140 PMID:9311735 PMID:9392580 More... NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISS OMIM:204200 MouseDO NCBI chr 5:135,121,176...135,141,076
Ensembl chr 5:135,121,163...135,142,048
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Nutritional and Metabolic Diseases 6770
      disease of metabolism 6770
        lipid metabolism disorder 1157
          lipid storage disease 653
            neuronal ceroid lipofuscinosis 184
              neuronal ceroid lipofuscinosis 3 4
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          inherited metabolic disorder 4673
            lipid metabolism disorder 1157
              lipid storage disease 653
                neuronal ceroid lipofuscinosis 184
                  neuronal ceroid lipofuscinosis 3 4
paths to the root