Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 chr16:70,834,957...70,854,724
Ensembl chr16:70,834,957...70,854,724
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIIC
OMIM
ClinVar
PMID:16960811, PMID:17033958, PMID:17397050, PMID:18024218, PMID:18518886, PMID:19479962, PMID:19823584, PMID:20583299, PMID:20825431, PMID:23301227, PMID:24767253, PMID:25326635, PMID:25491247, PMID:25525159, PMID:25741868, PMID:25859010, PMID:26287674, PMID:27733599, PMID:27827379, PMID:28041643, PMID:28492532, PMID:28981474, PMID:30311386, PMID:30809705, PMID:31228227, PMID:31536183 NCBI chr16:70,876,557...70,909,443 JBrowse link
G LOC108348042 ankyrin repeat domain-containing protein 7-like ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:28492532 NCBI chr17:89,772,614...89,781,812
Ensembl chr17:89,772,928...89,780,691
JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIIC ClinVar PMID:28492532 NCBI chr16:70,854,825...70,869,653
Ensembl chr16:70,859,280...70,869,634
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                mucopolysaccharidosis type IIIC 4
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2223
            lysosomal storage disease 527
              mucopolysaccharidosis 29
                mucopolysaccharidosis III 11
                  mucopolysaccharidosis type IIIC 4
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.