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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 10
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Accession:DOID:0110725 term browser browse the term
Definition:A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: CLN10;   Cathepsin D deficiency;   Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient;   Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency;   congenital neuronal ceroid lipofuscinosis
 narrow_synonym: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL
 primary_id: MESH:C566438
 alt_id: OMIA:001505;   OMIM:610127
 xref: GARD:1218;   ORDO:228337
For additional species annotation, visit the Alliance of Genome Resources.


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neuronal ceroid lipofuscinosis 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSD cathepsin D IAGP ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 10
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10
ClinVar
OMIM
PMID:10218883 PMID:16670177 PMID:16685649 PMID:24767253 PMID:25298308 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20160
    Nutritional and Metabolic Diseases 6000
      disease of metabolism 6000
        lipid metabolism disorder 998
          lipid storage disease 565
            neuronal ceroid lipofuscinosis 202
              neuronal ceroid lipofuscinosis 10 1
Path 2
Term Annotations click to browse term
  disease 20160
    Developmental Disease 13718
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11228
        genetic disease 10695
          inherited metabolic disorder 2943
            lipid metabolism disorder 998
              lipid storage disease 565
                neuronal ceroid lipofuscinosis 202
                  neuronal ceroid lipofuscinosis 10 1
paths to the root