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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


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 7:56,889,148...56,923,173
Ensembl chr 7:56,889,232...56,923,151 		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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                mucopolysaccharidosis type IIID 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            lysosomal storage disease 995
              mucopolysaccharidosis 44
                mucopolysaccharidosis III 18
                  mucopolysaccharidosis type IIID 2
paths to the root