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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 7
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Accession:DOID:0110722 term browser browse the term
Definition:A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28. (DO)
Synonyms:exact_synonym: CLN7
 primary_id: MESH:C563989
 alt_id: OMIA:001962;   OMIM:610951
 xref: GARD:1220;   ORDO:228366
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
neuronal ceroid lipofuscinosis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd18 abhydrolase domain containing 18 ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 7
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar PMID:19177532 PMID:28492532 NCBI chr 2:127,770,588...127,828,218
Ensembl chr 2:127,770,676...127,827,800
JBrowse link
G Hspa4l heat shock protein family A (Hsp70) member 4 like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 2:127,625,737...127,682,864
Ensembl chr 2:127,625,683...127,677,503
JBrowse link
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 2:127,459,089...127,521,327
Ensembl chr 2:127,459,012...127,525,437
JBrowse link
G Larp1b La ribonucleoprotein 1B ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 7
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar PMID:19177532 PMID:28492532 NCBI chr 2:127,845,034...127,876,793
Ensembl chr 2:127,845,034...127,876,793
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 7
ClinVar Annotator: match by OMIM:610951
OMIM
ClinVar
PMID:9536098 PMID:15074367 PMID:16199547 PMID:17564970 PMID:17576681 PMID:18414213 PMID:18850119 PMID:19177532 PMID:19201763 PMID:19277732 PMID:20826447 PMID:21990111 PMID:22668694 PMID:24033266 PMID:25227500 PMID:25333361 PMID:25439737 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26681805 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28586915 PMID:28600779 PMID:28708303 PMID:29389947 PMID:29924869 PMID:31489614 PMID:31597037 PMID:31618753 PMID:33546218 NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
JBrowse link
G Plk4 polo-like kinase 4 ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 7
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar PMID:19177532 PMID:28492532 NCBI chr 2:127,686,911...127,705,518
Ensembl chr 2:127,686,925...127,705,518
JBrowse link
G Slc25a31 solute carrier family 25 member 31 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 2:127,538,323...127,554,276
Ensembl chr 2:127,538,659...127,554,307
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 7 7
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 7 7
paths to the root