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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;   MONDO:0008767;   NCI:C61258;   ORDO:228346


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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 chr16:29,127,152...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
ISS		 OMIM:204200
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
MouseDO
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 5:135,121,164...135,142,048
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 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        lipid metabolism disorder 1735
          lipid storage disease 830
            neuronal ceroid lipofuscinosis 213
              neuronal ceroid lipofuscinosis 3 4
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            lipid metabolism disorder 1735
              lipid storage disease 830
                neuronal ceroid lipofuscinosis 213
                  neuronal ceroid lipofuscinosis 3 4
paths to the root