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ONTOLOGY REPORT - ANNOTATIONS


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;   ORDO:79271
For additional species annotation, visit the Alliance of Genome Resources.


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mucopolysaccharidosis type IIIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase JBrowse link 16 70,876,557 70,909,443 RGD:7240710
RGD:8554872
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            autosomal genetic disease 3674
              autosomal recessive disease 2106
                mucopolysaccharidosis type IIIC 2
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          inherited metabolic disorder 1884
            lysosomal storage disease 420
              mucopolysaccharidosis 26
                mucopolysaccharidosis III 9
                  mucopolysaccharidosis type IIIC 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.