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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 the SGSH gene on chromosome 17q25.3. (DO)
Synonyms:exact_synonym: MPS 3 A;   MPS III A;   MPS IIIA;   MPS IIIA - Sanfilippo syndrome A;   MPS3A;   MPSIIIA;   Sanfilippo syndrome A;   Sanfilippo syndrome type A;   heparan sulfamidase deficiency;   mucopolysaccharidosis III-A;   mucopolysaccharidosis IIIA;   mucopolysaccharidosis type 3 A;   mucopolysaccharidosis type 3 A Sanfilippo syndrome;   mucopolysaccharidosis type 3A;   mucopolysaccharidosis type IIIA (Sanfilippo A);   mucopolysaccharidosis, MPS-III-A
 primary_id: OMIM:252900
 xref: ORDO:79269

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mucopolysaccharidosis type IIIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card14 caspase recruitment domain family member 14 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 More... NCBI chrNW_004955506:2,711,061...2,744,555
Ensembl chrNW_004955506:2,711,942...2,734,219 		JBrowse link
G Eif4a3 eukaryotic translation initiation factor 4A3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:28492532 NCBI chrNW_004955506:2,749,534...2,760,873
Ensembl chrNW_004955506:2,749,534...2,760,873 		JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:9536098 PMID:16465621 PMID:17576681 PMID:19617216 PMID:19938078 More... NCBI chrNW_004955405:37,107,902...37,136,993
Ensembl chrNW_004955405:37,107,542...37,136,993 		JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:1303211 PMID:1550586 PMID:8318991 PMID:18414213 PMID:18500569 More... NCBI chrNW_004955498:1,863,002...1,886,720
Ensembl chrNW_004955498:1,860,628...1,886,867 		JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:28492532 NCBI chrNW_004955506:2,498,339...2,598,363
Ensembl chrNW_004955506:2,499,770...2,596,989 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A OMIM
ClinVar		 PMID:5542396 PMID:7493035 PMID:9158154 PMID:9285796 PMID:9401012 More... NCBI chrNW_004955506:2,701,901...2,713,431
Ensembl chrNW_004955506:2,701,905...2,711,073 		JBrowse link
G Slc26a11 solute carrier family 26 member 11 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:9158154 PMID:9285796 PMID:9554748 PMID:9744479 PMID:10521831 More... NCBI chrNW_004955506:2,683,637...2,701,889
Ensembl chrNW_004955506:2,684,259...2,700,837 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9439
            autosomal genetic disease 8757
              autosomal recessive disease 6141
                mucopolysaccharidosis type IIIA 7
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          inherited metabolic disorder 5144
            lysosomal storage disease 874
              mucopolysaccharidosis 40
                mucopolysaccharidosis III 17
                  mucopolysaccharidosis type IIIA 7
paths to the root