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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:mucopolysaccharidosis type IIIC
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Accession:DOID:0111393 term browser browse the term
Definition:A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in HGSNAT on chromosome 8p11.2-p11.1. (DO)
Synonyms:exact_synonym: Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency;   HGSNAT deficiency;   MPS 3 C;   MPS III C;   MPS IIIC;   MPS IIIC - Sanfilippo syndrome C;   MPS3C;   MPSIIIC;   MUCOPOLYSACCHARIDOSIS, MPS-III-C;   Mucopolysaccharidosis Type 3 C;   Mucopolysaccharidosis type 3C;   Sanfilippo syndrome C;   Sanfilippo syndrome type C;   heparan-alpha-glucosaminide N-acetyltransferase deficiency;   mucopolysaccharidosis type IIIC (Sanfilippo C)
 primary_id: OMIM:252930
 xref: GARD:7073;   NCI:C84899;   ORDO:79271
For additional species annotation, visit the Alliance of Genome Resources.



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mucopolysaccharidosis type IIIC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:28492532 NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIC (Sanfilippo C) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 More... NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138
JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:17033958 PMID:19479962 PMID:28492532 NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                mucopolysaccharidosis type IIIC 3
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          inherited metabolic disorder 4673
            lysosomal storage disease 815
              mucopolysaccharidosis 107
                mucopolysaccharidosis III 22
                  mucopolysaccharidosis type IIIC 3
paths to the root