Entry Search - 103285 106260 129400 603273 603543 604292 605289 618149

Search: '103285 106260 129400 603273 603543 604292 605289 618149 (Search in: MIM number)'

Results: 8 entries.

* 603273. TUMOR PROTEIN p63; TP63
Cytogenetic location: 3q28, Genomic coordinates (GRCh38): 3:189,596,746-189,897,276
Matching terms: 603273
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
3q28	ADULT syndrome	103285	AD	3
	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	604292	AD	3
	Hay-Wells syndrome	106260	AD	3
	Limb-mammary syndrome	603543	AD	3
	Orofacial cleft 8	618149		3
	Premature ovarian failure 21	620311	AD	3
	Rapp-Hodgkin syndrome	129400	AD	3
	Split-hand/foot malformation 4	605289	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 GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs ARVD/C Genetic Variants Da… ARVD/C Genes Variants Data… NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 55821006, 720464003, 721972001, 7731005

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# 103285. ADULT SYNDROME
Cytogenetic location: 3q28
Matching terms: 103285
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
3q28	ADULT syndrome	103285	AD	3	TP63	603273

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR GARD OrphaNet POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene

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ICD+
SNOMEDCT: 720464003 ORPHA: 978 DO: 0050601

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# 106260. ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; AEC
Cytogenetic location: 3q28
Matching terms: 106260
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
3q28	Hay-Wells syndrome	106260	AD	3	TP63	603273

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR GARD Seres-Santamaria Arimany M… Ankyloblepharon-ectodermal… OrphaNet POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene OMIA	Cell Lines Coriell

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ICD+
SNOMEDCT: 55821006 ORPHA: 1071 DO: 0090119

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# 603543. LIMB-MAMMARY SYNDROME; LMS
Cytogenetic location: 3q28
Matching terms: 603543
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
3q28	Limb-mammary syndrome	603543	AD	3	TP63	603273

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR GARD OrphaNet POSSUM	Animal Models NCBI HomoloGene

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ICD+
SNOMEDCT: 721972001 ORPHA: 69085

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# 618149. OROFACIAL CLEFT 8; OFC8
Cytogenetic location: 3q28
Matching terms: 618149
► 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
3q28	Orofacial cleft 8	618149		3	TP63	603273

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Orofacial cleft - PS119530 - 16 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p33	Orofacial cleft 13	AD	2	613857	OFC13	613857
1p31	Orofacial cleft 14	AR	2	615892	OFC14	615892
1q32.2	{Orofacial cleft 6}	AD	3	608864	IRF6	607199
2p13	Orofacial cleft 2	AD	2	602966	OFC2	602966
2q33.1	?Orofacial cleft 10	IC	3	613705	SUMO1	601912
3q28	Orofacial cleft 8		3	618149	TP63	603273
4p16.2	Orofacial cleft 5	AD	3	608874	MSX1	142983
4q21-q31	Orofacial cleft 4		2	608371	OFC4	608371
6p24.3	Orofacial cleft-1	AD	2	119530	OFC1	119530
8q24.3	Orofacial cleft 12		2	612858	OFC12	612858
11q23.3	Orofacial cleft 7	AR	3	225060	NECTIN1	600644
11q23.3	Cleft lip/palate-ectodermal dysplasia syndrome	AR	3	225060	NECTIN1	600644
13q33.1-q34	Orofacial cleft 9		2	610361	OFC9	610361
14q22.2	Orofacial cleft 11		3	600625	BMP4	112262
17q21.33	?Orofacial cleft 15	AD	3	616788	DLX4	601911
19q13	Orofacial cleft 3	?AD	2	600757	OFC3	600757

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models MGI Mouse Phenotype NCBI HomoloGene

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ICD+
ORPHA: 199306 DO: 0080401

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# 129400. RAPP-HODGKIN SYNDROME; RHS
Cytogenetic location: 3q28
Matching terms: 129400
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
3q28	Rapp-Hodgkin syndrome	129400	AD	3	TP63	603273

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Links
Testing GTR EuroGentest Cleft lip and alveolus Isolated cleft lip Cleft lip/palate Rapp-Hodgkin syndrome	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Cleft lip and alveolus Isolated cleft lip Cleft lip/palate Rapp-Hodgkin syndrome Gene Reviews Genetic Alliance MedlinePlus Genetics GTR GARD OrphaNet Cleft lip and alveolus Isolated cleft lip Cleft lip/palate Rapp-Hodgkin syndrome POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene OMIA

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ICD+
SNOMEDCT: 7731005 ORPHA: 141291, 199302, 199306, 3022 DO: 0060330

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# 604292. ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3
Cytogenetic location: 3q28
Matching terms: 604292
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
3q28	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	604292	AD	3	TP63	603273

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR GARD OrphaNet	Animal Models MGI Mouse Phenotype NCBI HomoloGene

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ICD+
ORPHA: 1896 DO: 0060783

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# 605289. SPLIT-HAND/FOOT MALFORMATION 4; SHFM4
Cytogenetic location: 3q28
Matching terms: 605289
► 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
3q28	Split-hand/foot malformation 4	605289	AD	3	TP63	603273

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Split-hand/foot malformation - PS183600 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q31	Split-hand/foot malformation 5		2	606708	SHFM5	606708
3q28	Split-hand/foot malformation 4	AD	3	605289	TP63	603273
7q21.3	Split-hand/foot malformation 1	AD	3	183600	DLX5	600028
7q21.3	?Split-hand/foot malformation 1 with sensorineural hearing loss	AR	3	220600	DLX5	600028
10q24	Split-hand/foot malformation 3, gene duplication syndrome	AD	4	246560	SHFM3	246560
12q13.12	Split-hand/foot malformation 6	AR	3	225300	WNT10B	601906
Xq26	Split hand/foot malformation 2	XL	2	313350	SHFM2	313350

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR GARD OrphaNet POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene

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ICD+
ORPHA: 2440 DO: 0090023

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Search: 103285 106260 129400 603273 603543 604292 605289 618149 (Search in: MIM number)

Results: 8 entries.

* 603273. TUMOR PROTEIN p63; TP63
Cytogenetic location: 3q28, Genomic coordinates (GRCh38): 3:189,596,746-189,897,276
Matching terms: 603273

# 103285. ADULT SYNDROME
Cytogenetic location: 3q28
Matching terms: 103285

# 106260. ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; AEC
Cytogenetic location: 3q28
Matching terms: 106260

# 603543. LIMB-MAMMARY SYNDROME; LMS
Cytogenetic location: 3q28
Matching terms: 603543

# 618149. OROFACIAL CLEFT 8; OFC8
Cytogenetic location: 3q28
Matching terms: 618149

# 129400. RAPP-HODGKIN SYNDROME; RHS
Cytogenetic location: 3q28
Matching terms: 129400

# 604292. ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3
Cytogenetic location: 3q28
Matching terms: 604292

# 605289. SPLIT-HAND/FOOT MALFORMATION 4; SHFM4
Cytogenetic location: 3q28
Matching terms: 605289

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Printed: April 25, 2024