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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
IAGP
Neuronal ceroid lipofuscinosis, 10 OMIM
OMIA
PMID:15715047 PMID:16293139 PMID:16386934 PMID:23338040 PMID:28860089 PMID:32219101 NCBI chr18:46,010,440...46,019,457
Ensembl chr18:46,010,440...46,019,457
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13742
    Nutritional and Metabolic Diseases 4456
      disease of metabolism 4456
        lipid metabolism disorder 829
          lipid storage disease 507
            neuronal ceroid lipofuscinosis 177
              neuronal ceroid lipofuscinosis 10 1
Path 2
Term Annotations click to browse term
  disease 13742
    Developmental Disease 10325
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8436
          inherited metabolic disorder 2379
            lipid metabolism disorder 829
              lipid storage disease 507
                neuronal ceroid lipofuscinosis 177
                  neuronal ceroid lipofuscinosis 10 1
paths to the root