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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;   Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset;   FINNISH vLINCL;   neuronal ceroid lipofuscinosis 5 variable age of onset;   neuronal ceroid lipofuscinosis, Finnish variant, late infantile
 narrow_synonym: CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT
 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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neuronal ceroid lipofuscinosis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by OMIM:256731
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 5
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5
ClinVar
OMIM
PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 PMID:15207259 PMID:15349861 PMID:15728307 PMID:16814585 PMID:18414213 PMID:18684116 PMID:19201763 PMID:19309691 PMID:19383612 PMID:20052765 PMID:20157158 PMID:20301601 PMID:20960652 PMID:21990111 PMID:22532218 PMID:22727047 PMID:23160995 PMID:23374165 PMID:24038957 PMID:24058541 PMID:24767253 PMID:25359263 PMID:25741868 PMID:25976102 PMID:26342652 PMID:26467025 PMID:26990548 PMID:27069701 PMID:27149842 PMID:27533158 PMID:27884173 PMID:28492532 PMID:29482223 PMID:30037983 PMID:30078242 PMID:30264640 PMID:30919163 PMID:31105743 PMID:31319225 NCBI chr15:93,634,815...93,644,146 JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 5
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5
ClinVar PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 PMID:15349861 PMID:15728307 PMID:16814585 PMID:18414213 PMID:18684116 PMID:19201763 PMID:19309691 PMID:19383612 PMID:20052765 PMID:20157158 PMID:20301601 PMID:20960652 PMID:21990111 PMID:22532218 PMID:22727047 PMID:23160995 PMID:23374165 PMID:24038957 PMID:24058541 PMID:24767253 PMID:25359263 PMID:25741868 PMID:25976102 PMID:26342652 PMID:26467025 PMID:27149842 PMID:28492532 PMID:30037983 PMID:30078242 PMID:30264640 PMID:30919163 PMID:31105743 PMID:31319225 NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Nutritional and Metabolic Diseases 5514
      disease of metabolism 5514
        lipid metabolism disorder 990
          lipid storage disease 533
            neuronal ceroid lipofuscinosis 179
              neuronal ceroid lipofuscinosis 5 2
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          inherited metabolic disorder 2607
            lipid metabolism disorder 990
              lipid storage disease 533
                neuronal ceroid lipofuscinosis 179
                  neuronal ceroid lipofuscinosis 5 2
paths to the root