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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 chr16:70,834,957...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:28468868 PMID:28492532 PMID:28981474 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 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                mucopolysaccharidosis type IIIC 4
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          inherited metabolic disorder 2235
            lysosomal storage disease 531
              mucopolysaccharidosis 31
                mucopolysaccharidosis III 11
                  mucopolysaccharidosis type IIIC 4
paths to the root