Entry Search - 252900 252920 252930 252940 605270 607664 609701 610453

Search: '252900 252920 252930 252940 605270 607664 609701 610453 (Search in: MIM number)'

Results: 8 entries.

* 605270. N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH
Cytogenetic location: 17q25.3, Genomic coordinates (GRCh38): 17:80,200,673-80,220,333
Matching terms: 605270
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
17q25.3	Mucopolysaccharidosis type IIIA (Sanfilippo A)	252900	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 41572006 ICD10CM: E76.22

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* 609701. N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU
Cytogenetic location: 17q21.2, Genomic coordinates (GRCh38): 17:42,536,241-42,544,449
Matching terms: 609701
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
17q21.2	?Charcot-Marie-Tooth disease, axonal, type 2V	616491	AD	3
17q21.2	Mucopolysaccharidosis type IIIB (Sanfilippo B)	252920	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1187618009, 59990008 ICD10CM: E76.22

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* 610453. HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE; HGSNAT
Cytogenetic location: 8p11.21-p11.1, Genomic coordinates (GRCh38): 8:43,140,464-43,202,855
Matching terms: 610453
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
8p11.21-p11.1	Mucopolysaccharidosis type IIIC (Sanfilippo C)	252930	AR	3
8p11.21-p11.1	Retinitis pigmentosa 73	616544	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 75238000 ICD10CM: E76.22

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# 252900. MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A
Cytogenetic location: 17q25.3
Matching terms: 252900
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
17q25.3	Mucopolysaccharidosis type IIIA (Sanfilippo A)	252900	AR	3	SGSH	605270

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Mucopolysaccharidoses - PS607014 - 13 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3p22.3	Mucopolysaccharidosis type IVB (Morquio)	AR	3	253010	GLB1	611458
3p21.31	Mucopolysaccharidosis type IX	AR	3	601492	HYAL1	607071
4p16.3	Mucopolysaccharidosis Is	AR	3	607016	IDUA	252800
4p16.3	Mucopolysaccharidosis Ih/s	AR	3	607015	IDUA	252800
4p16.3	Mucopolysaccharidosis Ih	AR	3	607014	IDUA	252800
5q14.1	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	AR	3	253200	ARSB	611542
5q15	Mucopolysaccharidosis, type X	AR	3	619698	ARSK	610011
7q11.21	Mucopolysaccharidosis VII	AR	3	253220	GUSB	611499
8p11.21-p11.1	Mucopolysaccharidosis type IIIC (Sanfilippo C)	AR	3	252930	HGSNAT	610453
16q24.3	Mucopolysaccharidosis IVA	AR	3	253000	GALNS	612222
17q21.2	Mucopolysaccharidosis type IIIB (Sanfilippo B)	AR	3	252920	NAGLU	609701
17q25.3	Mucopolysaccharidosis type IIIA (Sanfilippo A)	AR	3	252900	SGSH	605270
Xq28	Mucopolysaccharidosis II	XLR	3	309900	IDS	300823

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Links
Testing GTR EuroGentest Mucopolysaccharidosis type… Sanfilippo syndrome type A	Clinical Resources Clinical Trials EuroGentest Mucopolysaccharidosis type… Sanfilippo syndrome type A Gene Reviews GTR OrphaNet Mucopolysaccharidosis type… Sanfilippo syndrome type A POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA	Cell Lines Coriell

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ICD+
SNOMEDCT: 41572006 ICD10CM: E76.22 ORPHA: 581, 79269 DO: 0111395

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# 252920. MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
Cytogenetic location: 17q21.2
Matching terms: 252920
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
17q21.2	Mucopolysaccharidosis type IIIB (Sanfilippo B)	252920	AR	3	NAGLU	609701

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Mucopolysaccharidoses - PS607014 - 13 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3p22.3	Mucopolysaccharidosis type IVB (Morquio)	AR	3	253010	GLB1	611458
3p21.31	Mucopolysaccharidosis type IX	AR	3	601492	HYAL1	607071
4p16.3	Mucopolysaccharidosis Is	AR	3	607016	IDUA	252800
4p16.3	Mucopolysaccharidosis Ih/s	AR	3	607015	IDUA	252800
4p16.3	Mucopolysaccharidosis Ih	AR	3	607014	IDUA	252800
5q14.1	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	AR	3	253200	ARSB	611542
5q15	Mucopolysaccharidosis, type X	AR	3	619698	ARSK	610011
7q11.21	Mucopolysaccharidosis VII	AR	3	253220	GUSB	611499
8p11.21-p11.1	Mucopolysaccharidosis type IIIC (Sanfilippo C)	AR	3	252930	HGSNAT	610453
16q24.3	Mucopolysaccharidosis IVA	AR	3	253000	GALNS	612222
17q21.2	Mucopolysaccharidosis type IIIB (Sanfilippo B)	AR	3	252920	NAGLU	609701
17q25.3	Mucopolysaccharidosis type IIIA (Sanfilippo A)	AR	3	252900	SGSH	605270
Xq28	Mucopolysaccharidosis II	XLR	3	309900	IDS	300823

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Links
Testing GTR EuroGentest Mucopolysaccharidosis type… Sanfilippo syndrome type B	Clinical Resources Clinical Trials EuroGentest Mucopolysaccharidosis type… Sanfilippo syndrome type B Gene Reviews GTR OrphaNet Mucopolysaccharidosis type… Sanfilippo syndrome type B	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 59990008 ICD10CM: E76.22 ORPHA: 581, 79270 DO: 0111394

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# 252930. MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C
Cytogenetic location: 8p11.21-p11.1
Matching terms: 252930
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
8p11.21-p11.1	Mucopolysaccharidosis type IIIC (Sanfilippo C)	252930	AR	3	HGSNAT	610453

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Mucopolysaccharidoses - PS607014 - 13 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3p22.3	Mucopolysaccharidosis type IVB (Morquio)	AR	3	253010	GLB1	611458
3p21.31	Mucopolysaccharidosis type IX	AR	3	601492	HYAL1	607071
4p16.3	Mucopolysaccharidosis Is	AR	3	607016	IDUA	252800
4p16.3	Mucopolysaccharidosis Ih/s	AR	3	607015	IDUA	252800
4p16.3	Mucopolysaccharidosis Ih	AR	3	607014	IDUA	252800
5q14.1	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	AR	3	253200	ARSB	611542
5q15	Mucopolysaccharidosis, type X	AR	3	619698	ARSK	610011
7q11.21	Mucopolysaccharidosis VII	AR	3	253220	GUSB	611499
8p11.21-p11.1	Mucopolysaccharidosis type IIIC (Sanfilippo C)	AR	3	252930	HGSNAT	610453
16q24.3	Mucopolysaccharidosis IVA	AR	3	253000	GALNS	612222
17q21.2	Mucopolysaccharidosis type IIIB (Sanfilippo B)	AR	3	252920	NAGLU	609701
17q25.3	Mucopolysaccharidosis type IIIA (Sanfilippo A)	AR	3	252900	SGSH	605270
Xq28	Mucopolysaccharidosis II	XLR	3	309900	IDS	300823

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Links
Testing GTR EuroGentest Mucopolysaccharidosis type… Sanfilippo syndrome type C	Clinical Resources Clinical Trials EuroGentest Mucopolysaccharidosis type… Sanfilippo syndrome type C Gene Reviews GTR OrphaNet Mucopolysaccharidosis type… Sanfilippo syndrome type C	Animal Models Alliance Genome MGI Mouse Phenotype	Cell Lines Coriell

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ICD+
SNOMEDCT: 75238000 ICD10CM: E76.22 ORPHA: 581, 79271 DO: 0111393

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# 252940. MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D
Cytogenetic location: 12q14.3
Matching terms: 252940
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
12q14.3	Mucopolysaccharidosis type IIID	252940	AR	3	GNS	607664

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Links
Testing GTR EuroGentest Mucopolysaccharidosis type… Sanfilippo syndrome type D	Clinical Resources Clinical Trials EuroGentest Mucopolysaccharidosis type… Sanfilippo syndrome type D Gene Reviews MedlinePlus Genetics GTR OrphaNet Mucopolysaccharidosis type… Sanfilippo syndrome type D	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 15892005 ICD10CM: E76.22 ORPHA: 581, 79272 DO: 0111402, 12801

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* 607664. N-ACETYLGLUCOSAMINE-6-SULFATASE; GNS
Cytogenetic location: 12q14.3, Genomic coordinates (GRCh38): 12:64,713,449-64,759,406
Matching terms: 607664
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12q14.3	Mucopolysaccharidosis type IIID	252940	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 15892005 ICD10CM: E76.22

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Search: 252900 252920 252930 252940 605270 607664 609701 610453 (Search in: MIM number)

Results: 8 entries.

* 605270. N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH
Cytogenetic location: 17q25.3, Genomic coordinates (GRCh38): 17:80,200,673-80,220,333
Matching terms: 605270

* 609701. N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU
Cytogenetic location: 17q21.2, Genomic coordinates (GRCh38): 17:42,536,241-42,544,449
Matching terms: 609701

* 610453. HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE; HGSNAT
Cytogenetic location: 8p11.21-p11.1, Genomic coordinates (GRCh38): 8:43,140,464-43,202,855
Matching terms: 610453

# 252900. MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A
Cytogenetic location: 17q25.3
Matching terms: 252900

# 252920. MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
Cytogenetic location: 17q21.2
Matching terms: 252920

# 252930. MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C
Cytogenetic location: 8p11.21-p11.1
Matching terms: 252930

# 252940. MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D
Cytogenetic location: 12q14.3
Matching terms: 252940

* 607664. N-ACETYLGLUCOSAMINE-6-SULFATASE; GNS
Cytogenetic location: 12q14.3, Genomic coordinates (GRCh38): 12:64,713,449-64,759,406
Matching terms: 607664

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