Entry Search - 100300 147183 190198 605185 610911 614194 614219 614789 614814 615297 616028 616589

Search: '100300 147183 190198 605185 610911 614194 614219 614789 614814 615297 616028 616589 (Search in: MIM number)'

Results: 12 entries.

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# 100300. ADAMS-OLIVER SYNDROME 1; AOS1
APLASIA CUTIS CONGENITA, CONGENITAL HEART DEFECT, AND FRONTONASAL CYSTS, INCLUDED
Cytogenetic location: 3q13.32-q13.33
Matching terms: 100300
► 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
3q13.32-q13.33	Adams-Oliver syndrome 1	100300	AD	3	ARHGAP31	610911

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Adams-Oliver syndrome - PS100300 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3p14.1	Adams-Oliver syndrome 4	AR	3	615297	EOGT	614789
3q13.32-q13.33	Adams-Oliver syndrome 1	AD	3	100300	ARHGAP31	610911
4p15.2	Adams-Oliver syndrome 3	AD	3	614814	RBPJ	147183
9q34.3	Adams-Oliver syndrome 5	AD	3	616028	NOTCH1	190198
15q15.1	Adams-Oliver syndrome 6	AD	3	616589	DLL4	605185
19p13.2	Adams-Oliver syndrome 2	AR	3	614219	DOCK6	614194

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

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ICD+
ORPHA: 974 DO: 0060227

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* 605185. DELTA-LIKE CANONICAL NOTCH LIGAND 4; DLL4
Cytogenetic location: 15q15.1, Genomic coordinates (GRCh38): 15:40,929,340-40,939,073
Matching terms: 605185
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q15.1	Adams-Oliver syndrome 6	616589	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 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 OrthoDB Wormbase Gene WBGene00001106 WBGene00004963 ZFin	Cellular Pathways KEGG Reactome

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* 610911. RHO GTPase-ACTIVATING PROTEIN 31; ARHGAP31
Cytogenetic location: 3q13.32-q13.33, Genomic coordinates (GRCh38): 3:119,294,383-119,420,714
Matching terms: 610911
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
3q13.32-q13.33	Adams-Oliver syndrome 1	100300	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 MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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* 614194. DEDICATOR OF CYTOKINESIS 6; DOCK6
Cytogenetic location: 19p13.2, Genomic coordinates (GRCh38): 19:11,199,295-11,262,524
Matching terms: 614194
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19p13.2	Adams-Oliver syndrome 2	614219	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 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 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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# 614219. ADAMS-OLIVER SYNDROME 2; AOS2
Cytogenetic location: 19p13.2
Matching terms: 614219
► 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
19p13.2	Adams-Oliver syndrome 2	614219	AR	3	DOCK6	614194

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Adams-Oliver syndrome - PS100300 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3p14.1	Adams-Oliver syndrome 4	AR	3	615297	EOGT	614789
3q13.32-q13.33	Adams-Oliver syndrome 1	AD	3	100300	ARHGAP31	610911
4p15.2	Adams-Oliver syndrome 3	AD	3	614814	RBPJ	147183
9q34.3	Adams-Oliver syndrome 5	AD	3	616028	NOTCH1	190198
15q15.1	Adams-Oliver syndrome 6	AD	3	616589	DLL4	605185
19p13.2	Adams-Oliver syndrome 2	AR	3	614219	DOCK6	614194

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

▲ Close

ICD+
ORPHA: 974 DO: 0060227

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* 614789. EGF DOMAIN-SPECIFIC O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; EOGT
Cytogenetic location: 3p14.1, Genomic coordinates (GRCh38): 3:68,975,225-69,013,684
Matching terms: 614789
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
3p14.1	Adams-Oliver syndrome 4	615297	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 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 Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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# 614814. ADAMS-OLIVER SYNDROME 3; AOS3
Cytogenetic location: 4p15.2
Matching terms: 614814
► 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
4p15.2	Adams-Oliver syndrome 3	614814	AD	3	RBPJ	147183

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Adams-Oliver syndrome - PS100300 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3p14.1	Adams-Oliver syndrome 4	AR	3	615297	EOGT	614789
3q13.32-q13.33	Adams-Oliver syndrome 1	AD	3	100300	ARHGAP31	610911
4p15.2	Adams-Oliver syndrome 3	AD	3	614814	RBPJ	147183
9q34.3	Adams-Oliver syndrome 5	AD	3	616028	NOTCH1	190198
15q15.1	Adams-Oliver syndrome 6	AD	3	616589	DLL4	605185
19p13.2	Adams-Oliver syndrome 2	AR	3	614219	DOCK6	614194

▲ Close

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

▲ Close

ICD+
ORPHA: 974 DO: 0060227

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# 615297. ADAMS-OLIVER SYNDROME 4; AOS4
Cytogenetic location: 3p14.1
Matching terms: 615297
► 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
3p14.1	Adams-Oliver syndrome 4	615297	AR	3	EOGT	614789

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Adams-Oliver syndrome - PS100300 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3p14.1	Adams-Oliver syndrome 4	AR	3	615297	EOGT	614789
3q13.32-q13.33	Adams-Oliver syndrome 1	AD	3	100300	ARHGAP31	610911
4p15.2	Adams-Oliver syndrome 3	AD	3	614814	RBPJ	147183
9q34.3	Adams-Oliver syndrome 5	AD	3	616028	NOTCH1	190198
15q15.1	Adams-Oliver syndrome 6	AD	3	616589	DLL4	605185
19p13.2	Adams-Oliver syndrome 2	AR	3	614219	DOCK6	614194

▲ Close

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

▲ Close

ICD+
ORPHA: 974 DO: 0060227

▲ Close

# 616028. ADAMS-OLIVER SYNDROME 5; AOS5
Cytogenetic location: 9q34.3
Matching terms: 616028
► 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
9q34.3	Adams-Oliver syndrome 5	616028	AD	3	NOTCH1	190198

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Adams-Oliver syndrome - PS100300 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3p14.1	Adams-Oliver syndrome 4	AR	3	615297	EOGT	614789
3q13.32-q13.33	Adams-Oliver syndrome 1	AD	3	100300	ARHGAP31	610911
4p15.2	Adams-Oliver syndrome 3	AD	3	614814	RBPJ	147183
9q34.3	Adams-Oliver syndrome 5	AD	3	616028	NOTCH1	190198
15q15.1	Adams-Oliver syndrome 6	AD	3	616589	DLL4	605185
19p13.2	Adams-Oliver syndrome 2	AR	3	614219	DOCK6	614194

▲ Close

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

▲ Close

ICD+
ORPHA: 974 DO: 0060227

▲ Close

10:

# 616589. ADAMS-OLIVER SYNDROME 6; AOS6
Cytogenetic location: 15q15.1
Matching terms: 616589
► 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
15q15.1	Adams-Oliver syndrome 6	616589	AD	3	DLL4	605185

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Adams-Oliver syndrome - PS100300 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3p14.1	Adams-Oliver syndrome 4	AR	3	615297	EOGT	614789
3q13.32-q13.33	Adams-Oliver syndrome 1	AD	3	100300	ARHGAP31	610911
4p15.2	Adams-Oliver syndrome 3	AD	3	614814	RBPJ	147183
9q34.3	Adams-Oliver syndrome 5	AD	3	616028	NOTCH1	190198
15q15.1	Adams-Oliver syndrome 6	AD	3	616589	DLL4	605185
19p13.2	Adams-Oliver syndrome 2	AR	3	614219	DOCK6	614194

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest MedlinePlus Genetics GTR OrphaNet

▲ Close

ICD+
ORPHA: 974

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« First | ‹ Previous | Next › | Last »

Search: 100300 147183 190198 605185 610911 614194 614219 614789 614814 615297 616028 616589 (Search in: MIM number)

Results: 12 entries.

# 100300. ADAMS-OLIVER SYNDROME 1; AOS1
APLASIA CUTIS CONGENITA, CONGENITAL HEART DEFECT, AND FRONTONASAL CYSTS, INCLUDED
Cytogenetic location: 3q13.32-q13.33
Matching terms: 100300

* 605185. DELTA-LIKE CANONICAL NOTCH LIGAND 4; DLL4
Cytogenetic location: 15q15.1, Genomic coordinates (GRCh38): 15:40,929,340-40,939,073
Matching terms: 605185

* 610911. RHO GTPase-ACTIVATING PROTEIN 31; ARHGAP31
Cytogenetic location: 3q13.32-q13.33, Genomic coordinates (GRCh38): 3:119,294,383-119,420,714
Matching terms: 610911

* 614194. DEDICATOR OF CYTOKINESIS 6; DOCK6
Cytogenetic location: 19p13.2, Genomic coordinates (GRCh38): 19:11,199,295-11,262,524
Matching terms: 614194

# 614219. ADAMS-OLIVER SYNDROME 2; AOS2
Cytogenetic location: 19p13.2
Matching terms: 614219

* 614789. EGF DOMAIN-SPECIFIC O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; EOGT
Cytogenetic location: 3p14.1, Genomic coordinates (GRCh38): 3:68,975,225-69,013,684
Matching terms: 614789

# 614814. ADAMS-OLIVER SYNDROME 3; AOS3
Cytogenetic location: 4p15.2
Matching terms: 614814

# 615297. ADAMS-OLIVER SYNDROME 4; AOS4
Cytogenetic location: 3p14.1
Matching terms: 615297

# 616028. ADAMS-OLIVER SYNDROME 5; AOS5
Cytogenetic location: 9q34.3
Matching terms: 616028

10:

# 616589. ADAMS-OLIVER SYNDROME 6; AOS6
Cytogenetic location: 15q15.1
Matching terms: 616589

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