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mucopolysaccharidosis type IIID - Ontology Report - Rat Genome Database

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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: MIM:252940
 xref: GARD:7074;   NCI:C84900;   ORDO:79272

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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 C7h12orf56 similar to human chromosome 12 open reading frame 56 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 Cand1 cullin-associated and neddylation-dissociated 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:54,681,114...54,719,002
Ensembl chr 7:54,680,900...54,718,993 		JBrowse link
G Dyrk2 dual specificity tyrosine phosphorylation regulated kinase 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:56,235,276...56,265,741
Ensembl chr 7:54,349,610...54,380,106 		JBrowse link
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 7:58,774,625...58,808,650
Ensembl chr 7:56,889,232...56,923,151 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:54,934,250...55,592,273 		JBrowse link
G Helb DNA helicase B ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,474,115...57,502,221
Ensembl chr 7:55,588,798...55,615,585 		JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,762,710...57,884,555
Ensembl chr 7:55,880,112...55,994,784 		JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,538,522...57,600,166
Ensembl chr 7:55,653,962...55,713,121 		JBrowse link
G Kics2 KICSTOR subunit 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:59,169,703...59,182,974
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 7:58,300,556...58,389,485
Ensembl chr 7:56,305,448...56,502,474 		JBrowse link
G Llph LLP homolog, long-term synaptic facilitation factor ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:55,735,317...55,740,341
Ensembl chr 7:55,735,400...55,740,339 		JBrowse link
G Mok MOK protein kinase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:25741868 NCBI chr 6:135,645,018...135,675,894
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 7:58,188,827...58,311,459
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 7:58,821,360...58,886,020
Ensembl chr 7:56,935,973...57,000,553 		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 7:59,215,007...59,479,600
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 7:58,665,054...58,754,427
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 7:58,963,319...58,996,357
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
G Tmbim4 transmembrane BAX inhibitor motif containing 4 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:55,718,690...55,733,277
Ensembl chr 7:55,718,699...55,742,773 		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 7:58,433,326...58,503,853
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 7:58,997,025...59,037,506
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 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal recessive disease 7136
                mucopolysaccharidosis type IIID 21
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          inherited metabolic disorder 6628
            lysosomal storage disease 1055
              mucopolysaccharidosis 64
                mucopolysaccharidosis III 38
                  mucopolysaccharidosis type IIID 21
paths to the root