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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: MIM:252900
 xref: ORDO:79269


show annotations for term's descendants           Sort by:
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 chr10:105,064,941...105,100,132
Ensembl chr10:105,064,941...105,100,132 		JBrowse link
G Eif4a3 eukaryotic translation initiation factor 4A3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:28492532 NCBI chr10:105,047,567...105,057,561
Ensembl chr10:105,047,568...105,058,207 		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 chr 7:24,687,923...24,754,821
Ensembl chr 7:24,687,969...24,754,821 		JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:1303211 PMID:1550586 PMID:7581397 PMID:7887413 PMID:8111411 More... NCBI chr  X:154,070,781...154,093,681
Ensembl chr  X:154,070,781...154,091,444 		JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:28492532 NCBI chr10:105,154,873...105,254,148
Ensembl chr10:105,157,904...105,254,148 		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 chr10:105,095,336...105,112,037
Ensembl chr10:105,095,336...105,112,009 		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 chr10:105,112,020...105,134,393
Ensembl chr10:105,112,080...105,134,784 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                mucopolysaccharidosis type IIIA 7
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            lysosomal storage disease 1054
              mucopolysaccharidosis 64
                mucopolysaccharidosis III 38
                  mucopolysaccharidosis type IIIA 7
paths to the root