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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_004936594:4,174,258...4,195,165
Ensembl chrNW_004936594:4,174,258...4,194,472 		JBrowse link
G Eif4a3 eukaryotic translation initiation factor 4A3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:28492532 NCBI chrNW_004936594:4,148,401...4,160,290
Ensembl chrNW_004936594:4,147,685...4,160,293 		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_004936492:12,233,943...12,310,014
Ensembl chrNW_004936492:12,233,992...12,308,690 		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_004936513:62,966...88,844
Ensembl chrNW_004936513:62,993...88,774 		JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:28492532 NCBI chrNW_004936594:4,241,006...4,331,841
Ensembl chrNW_004936594:4,241,396...4,331,868 		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_004936594:4,195,217...4,203,802
Ensembl chrNW_004936594:4,193,983...4,204,008 		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_004936594:4,203,892...4,222,740
Ensembl chrNW_004936594:4,203,576...4,223,633 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9605
            autosomal genetic disease 8889
              autosomal recessive disease 6216
                mucopolysaccharidosis type IIIA 7
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          inherited metabolic disorder 5212
            lysosomal storage disease 880
              mucopolysaccharidosis 41
                mucopolysaccharidosis III 17
                  mucopolysaccharidosis type IIIA 7
paths to the root