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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 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:16465621 PMID:19617216 PMID:19938078 PMID:20301728 PMID:23192343 PMID:24045841 PMID:24550498 PMID:25505245 PMID:25741868 PMID:28492532 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar
OMIM		 PMID:7493035 PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 PMID:9744479 PMID:10521831 PMID:10601282 PMID:10727844 PMID:11182930 PMID:11343308 PMID:11668611 PMID:11903343 PMID:12000360 PMID:12438493 PMID:12490062 PMID:12702166 PMID:15146460 PMID:15542396 PMID:15637719 PMID:16174644 PMID:17128482 PMID:18407553 PMID:19099774 PMID:19383612 PMID:21061399 PMID:21204211 PMID:21228398 PMID:21393040 PMID:21455105 PMID:21671382 PMID:21910976 PMID:21963080 PMID:22002444 PMID:22976768 PMID:22976788 PMID:23084433 PMID:24314109 PMID:24347096 PMID:24576347 PMID:24816101 PMID:24875751 PMID:25113300 PMID:25557439 PMID:25741868 PMID:25807448 PMID:26075876 PMID:26331342 PMID:26648750 PMID:26787381 PMID:27590925 PMID:28492532 PMID:28844463 PMID:29023963 PMID:30070758 PMID:30311386 PMID:30593151 PMID:30809705 PMID:31536183 PMID:32214227 PMID:32581362 NCBI chr10:108,469,312...108,479,094 JBrowse link
G Slc26a11 solute carrier family 26 member 11 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:21204211 PMID:21910976 PMID:22976768 PMID:24816101 PMID:25741868 PMID:28492532 NCBI chr10:108,479,105...108,504,188
Ensembl chr10:108,480,368...108,503,706 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                mucopolysaccharidosis type IIIA 3
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            lysosomal storage disease 525
              mucopolysaccharidosis 31
                mucopolysaccharidosis III 11
                  mucopolysaccharidosis type IIIA 3
paths to the root