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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 5
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Accession:DOID:0110728 term browser browse the term
Definition:A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. (DO)
Synonyms:exact_synonym: CLN5;   neuronal ceroid lipofuscinosis 5 variable age of onset;   neuronal ceroid lipofuscinosis 5, variable age at onset
 narrow_synonym: Finnish vLINCL;   neuronal ceroid lipofuscinosis, Finnish variant, late infantile
 broad_synonym: vLINCL
 primary_id: MESH:C575534
 alt_id: OMIA:001482;   OMIM:256731
 xref: GARD:1223;   ORDO:228360
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    Nutritional and Metabolic Diseases 6748
      disease of metabolism 6748
        lipid metabolism disorder 1148
          lipid storage disease 645
            neuronal ceroid lipofuscinosis 183
              neuronal ceroid lipofuscinosis 5 1
Path 2
Term Annotations click to browse term
  disease 18110
    Developmental Disease 12861
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11545
        genetic disease 11079
          inherited metabolic disorder 4660
            lipid metabolism disorder 1148
              lipid storage disease 645
                neuronal ceroid lipofuscinosis 183
                  neuronal ceroid lipofuscinosis 5 1
paths to the root