Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:mucopolysaccharidosis type IIID
go back to main search page
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;   ORDO:79272
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
mucopolysaccharidosis type IIID term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gns glucosamine (N-acetyl)-6-sulfatase JBrowse link 7 63,467,027 63,501,054 RGD:8554872
RGD:7240710
G Mok MOK protein kinase JBrowse link 6 135,228,755 135,259,645 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal recessive disease 2118
                mucopolysaccharidosis type IIID 2
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          inherited metabolic disorder 1884
            lysosomal storage disease 420
              mucopolysaccharidosis 26
                mucopolysaccharidosis III 9
                  mucopolysaccharidosis type IIID 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.