Entry Search - 123101 168500 605420 609597

Search: '123101 168500 605420 609597 (Search in: MIM number)'

Results: 4 entries.

# 168500. PARIETAL FORAMINA 1; PFM1
Cytogenetic location: 5q35.2
Matching terms: 168500
► 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
5q35.2	Parietal foramina 1	168500	AD	3	MSX2	123101

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Parietal foramina - PS168500 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
4q21-q23	Parietal foramina 3	AD	2	609566	PFM3	609566
5q35.2	Parietal foramina 1	AD	3	168500	MSX2	123101
11p11.2	Parietal foramina 2	AD	3	609597	ALX4	605420

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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: 718099006 ORPHA: 60015 DO: 0060285

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# 609597. PARIETAL FORAMINA 2; PFM2
Cytogenetic location: 11p11.2
Matching terms: 609597
► 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
11p11.2	Parietal foramina 2	609597	AD	3	ALX4	605420

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Parietal foramina - PS168500 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
4q21-q23	Parietal foramina 3	AD	2	609566	PFM3	609566
5q35.2	Parietal foramina 1	AD	3	168500	MSX2	123101
11p11.2	Parietal foramina 2	AD	3	609597	ALX4	605420

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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 Wormbase Disease Ontology

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ICD+
ORPHA: 60015 DO: 0060285

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* 605420. ARISTALESS HOMEOBOX 4; ALX4
Cytogenetic location: 11p11.2, Genomic coordinates (GRCh38): 11:44,260,440-44,310,139
Matching terms: 605420
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11p11.2	{Craniosynostosis 5, susceptibility to}	615529	AD	3
	Frontonasal dysplasia 2	613451	AR	3
	Parietal foramina 2	609597	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 FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene WBGene00001096 WBGene00044330 ZFin	Cellular Pathways Reactome

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* 123101. MSH HOMEOBOX 2; MSX2
Cytogenetic location: 5q35.2, Genomic coordinates (GRCh38): 5:174,724,582-174,730,896
Matching terms: 123101
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5q35.2	Craniosynostosis 2	604757	AD	3
	Parietal foramina 1	168500	AD	3
	Parietal foramina with cleidocranial dysplasia	168550	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 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 Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 720817008, 771338002

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Search: 123101 168500 605420 609597 (Search in: MIM number)

Results: 4 entries.

# 168500. PARIETAL FORAMINA 1; PFM1
Cytogenetic location: 5q35.2
Matching terms: 168500

# 609597. PARIETAL FORAMINA 2; PFM2
Cytogenetic location: 11p11.2
Matching terms: 609597

* 605420. ARISTALESS HOMEOBOX 4; ALX4
Cytogenetic location: 11p11.2, Genomic coordinates (GRCh38): 11:44,260,440-44,310,139
Matching terms: 605420

* 123101. MSH HOMEOBOX 2; MSX2
Cytogenetic location: 5q35.2, Genomic coordinates (GRCh38): 5:174,724,582-174,730,896
Matching terms: 123101

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