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
Accession: DOID:0111402
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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 .
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 PMID:16199547 PMID:16990043 PMID:17576681 PMID:17998446 PMID:19650410 PMID:19763152 PMID:20232353 PMID:20307669 PMID:22406018 PMID:25640679 PMID:25741868 PMID:28492532 PMID:30809705 More...
NCBI chr 7:56,889,139...56,923,170
Ensembl chr 7:56,889,232...56,923,151
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
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
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
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
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
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
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
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
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
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
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
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
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