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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.


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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, TYPE IIID
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D
ClinVar
OMIM
PMID:3100754 PMID:6450420 PMID:12573255 PMID:12624138 PMID:16990043 PMID:17998446 PMID:19650410 PMID:20232353 PMID:25741868 PMID:28492532 PMID:30809705 NCBI chr 7:63,467,027...63,501,054
Ensembl chr 7:63,467,216...63,499,353
JBrowse link
G Mok MOK protein kinase ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIID ClinVar PMID:25741868 NCBI chr 6:135,228,755...135,259,645
Ensembl chr 6:135,228,803...135,259,603
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                mucopolysaccharidosis type IIID 2
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            lysosomal storage disease 525
              mucopolysaccharidosis 31
                mucopolysaccharidosis III 11
                  mucopolysaccharidosis type IIID 2
paths to the root