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mucopolysaccharidosis type IIIC - Ontology Report - Rat Genome Database

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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 the HGSNAT gene 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: MIM:252930
 xref: GARD:7073;   NCI:C84899;   ORDO:79271

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mucopolysaccharidosis type IIIC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A630010A05Rikl RIKEN cDNA A630010A05 gene like ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:28492532 NCBI chr10:2,221,335...2,385,035
Ensembl chr10:2,240,584...2,381,458 		JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:28492532 NCBI chr16:72,767,864...72,786,193
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:2552515 PMID:9536098 PMID:16199547 PMID:16960811 PMID:17033958 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 chr16:72,788,842...72,801,122
Ensembl chr16:66,088,000...66,098,388 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal recessive disease 7136
                mucopolysaccharidosis type IIIC 4
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          inherited metabolic disorder 6628
            lysosomal storage disease 1055
              mucopolysaccharidosis 64
                mucopolysaccharidosis III 38
                  mucopolysaccharidosis type IIIC 4
paths to the root