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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 ClinVar Annotator: match by OMIM:610127
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 10
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10
OMIM
ClinVar
PMID:10218883 PMID:16670177 PMID:16685649 PMID:24767253 PMID:25298308 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Nutritional and Metabolic Diseases 5219
      disease of metabolism 5219
        lipid metabolism disorder 927
          lipid storage disease 519
            neuronal ceroid lipofuscinosis 167
              neuronal ceroid lipofuscinosis 10 1
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        genetic disease 8408
          inherited metabolic disorder 2447
            lipid metabolism disorder 927
              lipid storage disease 519
                neuronal ceroid lipofuscinosis 167
                  neuronal ceroid lipofuscinosis 10 1
paths to the root