Entry Search - 122600 277300 602427 602576 602768 605195 608059 608681 609813 609891 613686 616566

Search: '122600 277300 602427 602576 602768 605195 608059 608681 609813 609891 613686 616566 (Search in: MIM number)'

Results: 12 entries.

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# 277300. SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1
Cytogenetic location: 19q13.2
Matching terms: 277300
► 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
19q13.2	Spondylocostal dysostosis 1, autosomal recessive	277300	AR	3	DLL3	602768

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Spondylocostal dysostosis - PS277300 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
6q14.2	?Spondylocostal dysostosis 6	AR	3	616566	RIPPLY2	609891
7p22.3	Spondylocostal dysostosis 3, autosomal recessive	AR	3	609813	LFNG	602576
15q26.1	Spondylocostal dysostosis 2, autosomal recessive	AR	3	608681	MESP2	605195
16p11.2	Spondylocostal dysostosis 5	AD, AR	3	122600	TBX6	602427
17p13.1	Spondylocostal dysostosis 4, autosomal recessive	AR	3	613686	HES7	608059
19q13.2	Spondylocostal dysostosis 1, autosomal recessive	AR	3	277300	DLL3	602768

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 61367005 ORPHA: 2311 DO: 0112365

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* 605195. MESODERM POSTERIOR BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR 2; MESP2
Cytogenetic location: 15q26.1, Genomic coordinates (GRCh38): 15:89,776,332-89,778,754
Matching terms: 605195
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q26.1	Spondylocostal dysostosis 2, autosomal recessive	608681	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 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 OrthoDB ZFin	Cellular Pathways Reactome

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# 122600. SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5
Cytogenetic location: 16p11.2
Matching terms: 122600
► 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
16p11.2	Spondylocostal dysostosis 5	122600	AD, AR	3	TBX6	602427

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Spondylocostal dysostosis - PS277300 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
6q14.2	?Spondylocostal dysostosis 6	AR	3	616566	RIPPLY2	609891
7p22.3	Spondylocostal dysostosis 3, autosomal recessive	AR	3	609813	LFNG	602576
15q26.1	Spondylocostal dysostosis 2, autosomal recessive	AR	3	608681	MESP2	605195
16p11.2	Spondylocostal dysostosis 5	AD, AR	3	122600	TBX6	602427
17p13.1	Spondylocostal dysostosis 4, autosomal recessive	AR	3	613686	HES7	608059
19q13.2	Spondylocostal dysostosis 1, autosomal recessive	AR	3	277300	DLL3	602768

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 1797 DO: 0112363

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* 608059. HES FAMILY bHLH TRANSCRIPTION FACTOR 7; HES7
Cytogenetic location: 17p13.1, Genomic coordinates (GRCh38): 17:8,120,592-8,126,634
Matching terms: 608059
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
17p13.1	Spondylocostal dysostosis 4, autosomal recessive	613686	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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways KEGG Reactome

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# 608681. SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2
Cytogenetic location: 15q26.1
Matching terms: 608681
► 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
15q26.1	Spondylocostal dysostosis 2, autosomal recessive	608681	AR	3	MESP2	605195

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Spondylocostal dysostosis - PS277300 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
6q14.2	?Spondylocostal dysostosis 6	AR	3	616566	RIPPLY2	609891
7p22.3	Spondylocostal dysostosis 3, autosomal recessive	AR	3	609813	LFNG	602576
15q26.1	Spondylocostal dysostosis 2, autosomal recessive	AR	3	608681	MESP2	605195
16p11.2	Spondylocostal dysostosis 5	AD, AR	3	122600	TBX6	602427
17p13.1	Spondylocostal dysostosis 4, autosomal recessive	AR	3	613686	HES7	608059
19q13.2	Spondylocostal dysostosis 1, autosomal recessive	AR	3	277300	DLL3	602768

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 2311 DO: 0112362

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# 609813. SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3
Cytogenetic location: 7p22.3
Matching terms: 609813
► 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
7p22.3	Spondylocostal dysostosis 3, autosomal recessive	609813	AR	3	LFNG	602576

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Spondylocostal dysostosis - PS277300 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
6q14.2	?Spondylocostal dysostosis 6	AR	3	616566	RIPPLY2	609891
7p22.3	Spondylocostal dysostosis 3, autosomal recessive	AR	3	609813	LFNG	602576
15q26.1	Spondylocostal dysostosis 2, autosomal recessive	AR	3	608681	MESP2	605195
16p11.2	Spondylocostal dysostosis 5	AD, AR	3	122600	TBX6	602427
17p13.1	Spondylocostal dysostosis 4, autosomal recessive	AR	3	613686	HES7	608059
19q13.2	Spondylocostal dysostosis 1, autosomal recessive	AR	3	277300	DLL3	602768

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 2311 DO: 0112361

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* 609891. RIPPLY TRANSCRIPTIONAL REPRESSOR 2; RIPPLY2
Cytogenetic location: 6q14.2, Genomic coordinates (GRCh38): 6:83,853,229-83,857,515
Matching terms: 609891
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
6q14.2	?Spondylocostal dysostosis 6	616566	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 GTR	Variation ClinVar gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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# 613686. SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4
Cytogenetic location: 17p13.1
Matching terms: 613686
► 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
17p13.1	Spondylocostal dysostosis 4, autosomal recessive	613686	AR	3	HES7	608059

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Spondylocostal dysostosis - PS277300 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
6q14.2	?Spondylocostal dysostosis 6	AR	3	616566	RIPPLY2	609891
7p22.3	Spondylocostal dysostosis 3, autosomal recessive	AR	3	609813	LFNG	602576
15q26.1	Spondylocostal dysostosis 2, autosomal recessive	AR	3	608681	MESP2	605195
16p11.2	Spondylocostal dysostosis 5	AD, AR	3	122600	TBX6	602427
17p13.1	Spondylocostal dysostosis 4, autosomal recessive	AR	3	613686	HES7	608059
19q13.2	Spondylocostal dysostosis 1, autosomal recessive	AR	3	277300	DLL3	602768

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype OMIA

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ICD+
ORPHA: 2311 DO: 0112364

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# 616566. SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE; SCDO6
Cytogenetic location: 6q14.2
Matching terms: 616566
► 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
6q14.2	?Spondylocostal dysostosis 6	616566	AR	3	RIPPLY2	609891

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Spondylocostal dysostosis - PS277300 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
6q14.2	?Spondylocostal dysostosis 6	AR	3	616566	RIPPLY2	609891
7p22.3	Spondylocostal dysostosis 3, autosomal recessive	AR	3	609813	LFNG	602576
15q26.1	Spondylocostal dysostosis 2, autosomal recessive	AR	3	608681	MESP2	605195
16p11.2	Spondylocostal dysostosis 5	AD, AR	3	122600	TBX6	602427
17p13.1	Spondylocostal dysostosis 4, autosomal recessive	AR	3	613686	HES7	608059
19q13.2	Spondylocostal dysostosis 1, autosomal recessive	AR	3	277300	DLL3	602768

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews MedlinePlus Genetics GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype

▲ Close

ICD+
ORPHA: 2311 DO: 0112360

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10:

* 602427. T-BOX TRANSCRIPTION FACTOR 6; TBX6
Cytogenetic location: 16p11.2, Genomic coordinates (GRCh38): 16:30,085,793-30,091,924
Matching terms: 602427
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
16p11.2	Spondylocostal dysostosis 5	122600	AD, 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 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 OrthoDB Wormbase Gene WBGene00004750 WBGene00006556 WBGene00006557 WBGene00006559 ZFin	Cellular Pathways Reactome

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Search: 122600 277300 602427 602576 602768 605195 608059 608681 609813 609891 613686 616566 (Search in: MIM number)

Results: 12 entries.

# 277300. SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1
Cytogenetic location: 19q13.2
Matching terms: 277300

* 605195. MESODERM POSTERIOR BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR 2; MESP2
Cytogenetic location: 15q26.1, Genomic coordinates (GRCh38): 15:89,776,332-89,778,754
Matching terms: 605195

# 122600. SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5
Cytogenetic location: 16p11.2
Matching terms: 122600

* 608059. HES FAMILY bHLH TRANSCRIPTION FACTOR 7; HES7
Cytogenetic location: 17p13.1, Genomic coordinates (GRCh38): 17:8,120,592-8,126,634
Matching terms: 608059

# 608681. SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2
Cytogenetic location: 15q26.1
Matching terms: 608681

# 609813. SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3
Cytogenetic location: 7p22.3
Matching terms: 609813

* 609891. RIPPLY TRANSCRIPTIONAL REPRESSOR 2; RIPPLY2
Cytogenetic location: 6q14.2, Genomic coordinates (GRCh38): 6:83,853,229-83,857,515
Matching terms: 609891

# 613686. SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4
Cytogenetic location: 17p13.1
Matching terms: 613686

# 616566. SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE; SCDO6
Cytogenetic location: 6q14.2
Matching terms: 616566

10:

* 602427. T-BOX TRANSCRIPTION FACTOR 6; TBX6
Cytogenetic location: 16p11.2, Genomic coordinates (GRCh38): 16:30,085,793-30,091,924
Matching terms: 602427

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