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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 IIID
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Accession:DOID:0111402 term browser browse the term
Definition:A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. (DO)
Synonyms:exact_synonym: GNS deficiency;   MPS 3 D;   MPS III D;   MPS IIID;   MPS IIID - Sanfilippo syndrome D;   MPS3D;   MUCOPOLYSACCHARIDOSIS, MPS-III-D;   Mucopolysaccharidosis type 3D;   N acetylglucosamine 6 sulfate sulfatase deficiency;   N-acetylglucosamine-6-sulfatase deficiencies;   N-acetylglucosamine-6-sulfatase deficiency;   N-acetylglucosamine-6-sulfate sulfatase deficiencies;   Sanfilippo syndrome D;   Sanfilippo syndrome type D;   mucopolysaccharidosis type 3 D
 primary_id: OMIM:252940
 xref: GARD:7074;   NCI:C84900;   ORDO:79272
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
mucopolysaccharidosis type IIID term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gns glucosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D OMIM
ClinVar		 PMID:3100754 PMID:6450420 PMID:9536098 PMID:12573255 PMID:12624138 More... NCBI chr 7:56,889,139...56,923,170
Ensembl chr 7:56,889,232...56,923,151 		JBrowse link
G Kics2 KICSTOR subunit 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,284,213...57,299,070
Ensembl chr 7:57,284,192...57,297,486 		JBrowse link
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474 		JBrowse link
G Mok MOK protein kinase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:25741868 NCBI chr 6:129,823,794...129,854,669
Ensembl chr 6:129,823,795...129,854,700 		JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496 		JBrowse link
G Rassf3 Ras association domain family member 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:56,935,894...57,000,591
Ensembl chr 7:56,935,973...57,000,553 		JBrowse link
G RGD1561648 RGD1561648 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,170,406...57,220,930
Ensembl chr 7:57,170,992...57,220,925 		JBrowse link
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657 		JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196 		JBrowse link
G Tbc1d30 TBC1 domain family, member 30 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:56,779,570...56,869,092
Ensembl chr 7:56,782,165...56,870,515 		JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:56,548,058...56,618,364
Ensembl chr 7:56,548,053...56,618,360 		JBrowse link
G Xpot exportin for tRNA ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,111,536...57,151,847
Ensembl chr 7:57,111,536...57,152,099 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                mucopolysaccharidosis type IIID 13
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          inherited metabolic disorder 4645
            lysosomal storage disease 805
              mucopolysaccharidosis 107
                mucopolysaccharidosis III 22
                  mucopolysaccharidosis type IIID 13
paths to the root