Entry Search - 122470 300040 300269 300590 300882 606062 606462 608667 608749 610759 614701 620568

Search: '122470 300040 300269 300590 300882 606062 606462 608667 608749 610759 614701 620568 (Search in: MIM number)'

Results: 12 entries.

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# 122470. CORNELIA DE LANGE SYNDROME 1; CDLS1
Cytogenetic location: 5p13.2
Matching terms: 122470
► 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
5p13.2	Cornelia de Lange syndrome 1	122470	AD	3	NIPBL	608667

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Cornelia de Lange syndrome - PS122470 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
5p13.2	Cornelia de Lange syndrome 1	AD	3	122470	NIPBL	608667
8q24.11	Cornelia de Lange syndrome 4	AD	3	614701	RAD21	606462
10q25.2	Cornelia de Lange syndrome 3	AD	3	610759	SMC3	606062
19p13.12	Cornelia de Lange syndrome 6	AD	3	620568	BRD4	608749
Xp11.22	Cornelia de Lange syndrome 2	XLD	3	300590	SMC1A	300040
Xq13.1	Cornelia de Lange syndrome 5	XLD	3	300882	HDAC8	300269

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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	Cell Lines Coriell

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ICD+
SNOMEDCT: 40354009 ICD10CM: Q87.19 ORPHA: 199 DO: 0080505

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* 606062. STRUCTURAL MAINTENANCE OF CHROMOSOMES 3; SMC3
Cytogenetic location: 10q25.2, Genomic coordinates (GRCh38): 10:110,567,695-110,606,048
Matching terms: 606062
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
10q25.2	Cornelia de Lange syndrome 3	610759	AD	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 DECIPHER gnomAD GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 300040. STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A; SMC1A
Cytogenetic location: Xp11.22, Genomic coordinates (GRCh38): X:53,374,149-53,422,728
Matching terms: 300040
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xp11.22	Cornelia de Lange syndrome 2	300590	XLD	3
Xp11.22	Developmental and epileptic encephalopathy 85, with or without midline brain defects	301044	XLD	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 Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 55016009

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* 300269. HISTONE DEACETYLASE 8; HDAC8
Cytogenetic location: Xq13.1, Genomic coordinates (GRCh38): X:72,329,516-72,572,843
Matching terms: 300269
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xq13.1	Cornelia de Lange syndrome 5	300882	XLD	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 GTR	Variation ClinVar DECIPHER gnomAD GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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# 300590. CORNELIA DE LANGE SYNDROME 2; CDLS2
Cytogenetic location: Xp11.22
Matching terms: 300590
► 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
Xp11.22	Cornelia de Lange syndrome 2	300590	XLD	3	SMC1A	300040

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Cornelia de Lange syndrome - PS122470 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
5p13.2	Cornelia de Lange syndrome 1	AD	3	122470	NIPBL	608667
8q24.11	Cornelia de Lange syndrome 4	AD	3	614701	RAD21	606462
10q25.2	Cornelia de Lange syndrome 3	AD	3	610759	SMC3	606062
19p13.12	Cornelia de Lange syndrome 6	AD	3	620568	BRD4	608749
Xp11.22	Cornelia de Lange syndrome 2	XLD	3	300590	SMC1A	300040
Xq13.1	Cornelia de Lange syndrome 5	XLD	3	300882	HDAC8	300269

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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 Wormbase Disease Ontology

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ICD+
SNOMEDCT: 55016009 ORPHA: 199 DO: 0080506

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# 300882. CORNELIA DE LANGE SYNDROME 5; CDLS5
Cytogenetic location: Xq13.1
Matching terms: 300882
► 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
Xq13.1	Cornelia de Lange syndrome 5	300882	XLD	3	HDAC8	300269

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Cornelia de Lange syndrome - PS122470 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
5p13.2	Cornelia de Lange syndrome 1	AD	3	122470	NIPBL	608667
8q24.11	Cornelia de Lange syndrome 4	AD	3	614701	RAD21	606462
10q25.2	Cornelia de Lange syndrome 3	AD	3	610759	SMC3	606062
19p13.12	Cornelia de Lange syndrome 6	AD	3	620568	BRD4	608749
Xp11.22	Cornelia de Lange syndrome 2	XLD	3	300590	SMC1A	300040
Xq13.1	Cornelia de Lange syndrome 5	XLD	3	300882	HDAC8	300269

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

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ICD+
ORPHA: 199 DO: 0080509

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* 608667. NIPPED-B-LIKE; NIPBL
Cytogenetic location: 5p13.2, Genomic coordinates (GRCh38): 5:36,876,769-37,066,413
Matching terms: 608667
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5p13.2	Cornelia de Lange syndrome 1	122470	AD	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 Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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* 608749. BROMODOMAIN-CONTAINING PROTEIN 4; BRD4
BRD4/NUT FUSION GENE, INCLUDED
Cytogenetic location: 19p13.12, Genomic coordinates (GRCh38): 19:15,235,519-15,332,539
Matching terms: 608749
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19p13.12	Cornelia de Lange syndrome 6	620568	AD	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 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 Wormbase Gene ZFin	Cellular Pathways Reactome

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# 610759. CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; CDLS3
Cytogenetic location: 10q25.2
Matching terms: 610759
► 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
10q25.2	Cornelia de Lange syndrome 3	610759	AD	3	SMC3	606062

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Cornelia de Lange syndrome - PS122470 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
5p13.2	Cornelia de Lange syndrome 1	AD	3	122470	NIPBL	608667
8q24.11	Cornelia de Lange syndrome 4	AD	3	614701	RAD21	606462
10q25.2	Cornelia de Lange syndrome 3	AD	3	610759	SMC3	606062
19p13.12	Cornelia de Lange syndrome 6	AD	3	620568	BRD4	608749
Xp11.22	Cornelia de Lange syndrome 2	XLD	3	300590	SMC1A	300040
Xq13.1	Cornelia de Lange syndrome 5	XLD	3	300882	HDAC8	300269

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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 Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 199 DO: 0080507

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10:

# 614701. CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; CDLS4
Cytogenetic location: 8q24.11
Matching terms: 614701
► 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
8q24.11	Cornelia de Lange syndrome 4	614701	AD	3	RAD21	606462

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Cornelia de Lange syndrome - PS122470 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
5p13.2	Cornelia de Lange syndrome 1	AD	3	122470	NIPBL	608667
8q24.11	Cornelia de Lange syndrome 4	AD	3	614701	RAD21	606462
10q25.2	Cornelia de Lange syndrome 3	AD	3	610759	SMC3	606062
19p13.12	Cornelia de Lange syndrome 6	AD	3	620568	BRD4	608749
Xp11.22	Cornelia de Lange syndrome 2	XLD	3	300590	SMC1A	300040
Xq13.1	Cornelia de Lange syndrome 5	XLD	3	300882	HDAC8	300269

▲ Close

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

▲ Close

ICD+
ORPHA: 199 DO: 0080508

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Search: 122470 300040 300269 300590 300882 606062 606462 608667 608749 610759 614701 620568 (Search in: MIM number)

Results: 12 entries.

# 122470. CORNELIA DE LANGE SYNDROME 1; CDLS1
Cytogenetic location: 5p13.2
Matching terms: 122470

* 606062. STRUCTURAL MAINTENANCE OF CHROMOSOMES 3; SMC3
Cytogenetic location: 10q25.2, Genomic coordinates (GRCh38): 10:110,567,695-110,606,048
Matching terms: 606062

* 300040. STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A; SMC1A
Cytogenetic location: Xp11.22, Genomic coordinates (GRCh38): X:53,374,149-53,422,728
Matching terms: 300040

* 300269. HISTONE DEACETYLASE 8; HDAC8
Cytogenetic location: Xq13.1, Genomic coordinates (GRCh38): X:72,329,516-72,572,843
Matching terms: 300269

# 300590. CORNELIA DE LANGE SYNDROME 2; CDLS2
Cytogenetic location: Xp11.22
Matching terms: 300590

# 300882. CORNELIA DE LANGE SYNDROME 5; CDLS5
Cytogenetic location: Xq13.1
Matching terms: 300882

* 608667. NIPPED-B-LIKE; NIPBL
Cytogenetic location: 5p13.2, Genomic coordinates (GRCh38): 5:36,876,769-37,066,413
Matching terms: 608667

* 608749. BROMODOMAIN-CONTAINING PROTEIN 4; BRD4
BRD4/NUT FUSION GENE, INCLUDED
Cytogenetic location: 19p13.12, Genomic coordinates (GRCh38): 19:15,235,519-15,332,539
Matching terms: 608749

# 610759. CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; CDLS3
Cytogenetic location: 10q25.2
Matching terms: 610759

10:

# 614701. CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; CDLS4
Cytogenetic location: 8q24.11
Matching terms: 614701

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