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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 ISO OMIM NCBI chr11:1,789,326...1,800,524 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13776
    Nutritional and Metabolic Diseases 4342
      disease of metabolism 4342
        lipid metabolism disorder 791
          lipid storage disease 470
            neuronal ceroid lipofuscinosis 163
              neuronal ceroid lipofuscinosis 10 1
Path 2
Term Annotations click to browse term
  disease 13776
    Developmental Disease 10339
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8896
        genetic disease 8445
          inherited metabolic disorder 2333
            lipid metabolism disorder 791
              lipid storage disease 470
                neuronal ceroid lipofuscinosis 163
                  neuronal ceroid lipofuscinosis 10 1
paths to the root