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ONTOLOGY REPORT - ANNOTATIONS


Term:mucopolysaccharidosis type IIIA
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Accession:DOID:0111395 term browser browse the term
Definition:A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in SGSH on chromosome 17q25.3. (DO)
Synonyms:exact_synonym: MPS 3 A;   MPS III A;   MPS IIIA;   MPS IIIA - Sanfilippo syndrome A;   MPS3A;   MPSIIIA;   Mucopolysaccharidosis Type 3 A;   Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome;   Sanfilippo syndrome A;   Sanfilippo syndrome type A;   heparan sulfamidase deficiency;   mucopolysaccharidosis III-A;   mucopolysaccharidosis IIIA;   mucopolysaccharidosis type 3A;   mucopolysaccharidosis type IIIA (Sanfilippo A);   mucopolysaccharidosis, MPS-III-A
 primary_id: OMIM:252900
 xref: ORDO:79269
For additional species annotation, visit the Alliance of Genome Resources.


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mucopolysaccharidosis type IIIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta JBrowse link 7 28,956,363 29,023,232 RGD:8554872
G Sgsh N-sulfoglucosamine sulfohydrolase JBrowse link 10 108,469,312 108,479,094 RGD:8554872
RGD:7240710
G Slc26a11 solute carrier family 26 member 11 JBrowse link 10 108,479,105 108,504,188 RGD:8554872

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Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal recessive disease 2118
                mucopolysaccharidosis type IIIA 3
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          inherited metabolic disorder 1884
            lysosomal storage disease 420
              mucopolysaccharidosis 26
                mucopolysaccharidosis III 9
                  mucopolysaccharidosis type IIIA 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.