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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 Lipofuscinosis;   CLN3-related neuronal ceroid lipofuscinoses;   JNCL;   Juvenile Batten Disease;   Juvenile Batten Diseases;   Juvenile Neuronal Ceroid Lipofuscinosis;   Neuronal Ceroid Lipofuscinosis Juvenile Type;   Spielmeyer Sjogren disease;   Spielmeyer-Sjogren diseases;   Vogt-Spielmeyer disease;   Vogt-Spielmeyer diseases;   juvenile neuronal ceroid lipofuscinosis 3
 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 chr16:32,448,821...32,520,649
Ensembl chr16:32,449,116...32,519,148
JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISS OMIM:204200 MouseDO NCBI chr 5:164,811,815...164,844,554
Ensembl chr 5:164,811,816...164,844,586
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 3, protracted
ClinVar Annotator: match by term: Juvenile neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Spielmeyer Sjogren disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3
OMIM
ClinVar
PMID:7553855 PMID:7887420 PMID:9004140 PMID:9311735 PMID:9392580 PMID:9450775 PMID:9536098 PMID:9618513 PMID:9932957 PMID:10332042 PMID:10749980 PMID:10924275 PMID:11339651 PMID:11589014 PMID:12189165 PMID:14699076 PMID:16199547 PMID:16291725 PMID:17475770 PMID:17576681 PMID:17868323 PMID:17947292 PMID:18414213 PMID:19132115 PMID:19489875 PMID:20187884 PMID:21228398 PMID:21499717 PMID:21990111 PMID:22013180 PMID:22545070 PMID:22748208 PMID:23374165 PMID:23539563 PMID:23847139 PMID:24154662 PMID:24271013 PMID:24827497 PMID:25525159 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26633542 PMID:26766544 PMID:27843123 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28542676 PMID:28559085 PMID:29049447 PMID:29343940 PMID:30769084 PMID:31568712 PMID:32441891 PMID:32685355 PMID:33507216 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISS OMIM:204200 MouseDO NCBI chr 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162
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 3 4
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 3 4
paths to the root