Entry Search - 129490 224900 300451 305100 604095 606268 606603 614941

Search: '129490 224900 300451 305100 604095 606268 606603 614941 (Search in: MIM number)'

Results: 8 entries.

* 300451. ECTODYSPLASIN A; EDA
ECTODYSPLASIN A1 ISOFORM, INCLUDED
Cytogenetic location: Xq13.1, Genomic coordinates (GRCh38): X:69,616,113-70,039,472
Matching terms: 300451
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xq13.1	Ectodermal dysplasia 1, hypohidrotic, X-linked	305100	XLR	3
Xq13.1	Tooth agenesis, selective, X-linked 1	313500	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 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 OMIA OrthoDB ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 239007005, 7731005

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# 129490. ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A
Cytogenetic location: 2q13
Matching terms: 129490
► 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
2q13	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	129490	AD	3	EDAR	604095

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Ectodermal dysplasia (select examples) - PS305100 - 18 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.11	?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	AD	3	617337	KDF1	616758
1q42.3-q43	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	AR	3	614941	EDARADD	606603
1q42.3-q43	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	AD	3	614940	EDARADD	606603
2q13	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	AD	3	129490	EDAR	604095
2q13	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	AR	3	224900	EDAR	604095
2q35	Ectodermal dysplasia 16 (odontoonychodermal dysplasia)	AR	3	257980	WNT10A	606268
4p16.2	Ectodermal dysplasia 3, Witkop type	AD	3	189500	MSX1	142983
10q24.32-q25.1	Ectodermal dysplasia 5, hair/nail type	AR	2	614927	ECTD5	614927
11q13.1	?Ectodermal dysplasia 15, hypohidrotic/hair type	AR	3	618535	CST6	601891
12q13.13	Ectodermal dysplasia 4, hair/nail type	AR	3	602032	KRT85	602767
12q13.13	?Ectodermal dysplasia 7, hair/nail type	AR	3	614929	KRT74	608248
12q13.13	Ectodermal dysplasia 9, hair/nail type	AR	3	614931	HOXC13	142976
13q12.11	Ectodermal dysplasia 2, Clouston type	AD	3	129500	GJB6	604418
17p12-q21.2	Ectodermal dysplasia 6, hair/nail type	AR	2	614928	ECTD6	614928
18q22.1-q22.3	Ectodermal dysplasia 8, hair/tooth/nail type	AR	2	602401	ECTD8	602401
21q22.3	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	AR	3	618180	TSPEAR	612920
22q12.1	Ectodermal dysplasia 13, hair/tooth type	AR	3	617392	KREMEN1	609898
Xq13.1	Ectodermal dysplasia 1, hypohidrotic, X-linked	XLR	3	305100	EDA	300451

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Links
Testing GTR EuroGentest Autosomal dominant hypohid… Hypohidrotic ectodermal dy…	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Autosomal dominant hypohid… Hypohidrotic ectodermal dy… Gene Reviews GTR GARD Autosomal dominant hypohid… Hypohidrotic ectodermal dy… OrphaNet Autosomal dominant hypohid… Hypohidrotic ectodermal dy… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA

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ICD+
ORPHA: 1810, 238468 DO: 0111663

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# 224900. ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B
Cytogenetic location: 2q13
Matching terms: 224900
► 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
2q13	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	224900	AR	3	EDAR	604095

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Ectodermal dysplasia (select examples) - PS305100 - 18 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.11	?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	AD	3	617337	KDF1	616758
1q42.3-q43	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	AR	3	614941	EDARADD	606603
1q42.3-q43	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	AD	3	614940	EDARADD	606603
2q13	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	AD	3	129490	EDAR	604095
2q13	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	AR	3	224900	EDAR	604095
2q35	Ectodermal dysplasia 16 (odontoonychodermal dysplasia)	AR	3	257980	WNT10A	606268
4p16.2	Ectodermal dysplasia 3, Witkop type	AD	3	189500	MSX1	142983
10q24.32-q25.1	Ectodermal dysplasia 5, hair/nail type	AR	2	614927	ECTD5	614927
11q13.1	?Ectodermal dysplasia 15, hypohidrotic/hair type	AR	3	618535	CST6	601891
12q13.13	Ectodermal dysplasia 4, hair/nail type	AR	3	602032	KRT85	602767
12q13.13	?Ectodermal dysplasia 7, hair/nail type	AR	3	614929	KRT74	608248
12q13.13	Ectodermal dysplasia 9, hair/nail type	AR	3	614931	HOXC13	142976
13q12.11	Ectodermal dysplasia 2, Clouston type	AD	3	129500	GJB6	604418
17p12-q21.2	Ectodermal dysplasia 6, hair/nail type	AR	2	614928	ECTD6	614928
18q22.1-q22.3	Ectodermal dysplasia 8, hair/tooth/nail type	AR	2	602401	ECTD8	602401
21q22.3	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	AR	3	618180	TSPEAR	612920
22q12.1	Ectodermal dysplasia 13, hair/tooth type	AR	3	617392	KREMEN1	609898
Xq13.1	Ectodermal dysplasia 1, hypohidrotic, X-linked	XLR	3	305100	EDA	300451

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Links
Testing GTR EuroGentest Hypohidrotic ectodermal dy… Autosomal recessive hypohi…	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Hypohidrotic ectodermal dy… Autosomal recessive hypohi… Gene Reviews Genetic Alliance GTR GARD Autosomal recessive hypohi… Hypohidrotic ectodermal dy… OrphaNet Hypohidrotic ectodermal dy… Autosomal recessive hypohi…	Animal Models Alliance Genome MGI Mouse Phenotype OMIA

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ICD+
ORPHA: 238468, 248 DO: 0111665

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* 604095. ECTODYSPLASIN A RECEPTOR; EDAR
Cytogenetic location: 2q13, Genomic coordinates (GRCh38): 2:108,894,471-108,989,220
Matching terms: 604095
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q13	[Hair morphology 1, hair thickness]	612630		3
	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	129490	AD	3
	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	224900	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 IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways KEGG Reactome

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# 305100. ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED
Cytogenetic location: Xq13.1
Matching terms: 305100
► 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	Ectodermal dysplasia 1, hypohidrotic, X-linked	305100	XLR	3	EDA	300451

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Ectodermal dysplasia (select examples) - PS305100 - 18 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.11	?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	AD	3	617337	KDF1	616758
1q42.3-q43	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	AR	3	614941	EDARADD	606603
1q42.3-q43	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	AD	3	614940	EDARADD	606603
2q13	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	AD	3	129490	EDAR	604095
2q13	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	AR	3	224900	EDAR	604095
2q35	Ectodermal dysplasia 16 (odontoonychodermal dysplasia)	AR	3	257980	WNT10A	606268
4p16.2	Ectodermal dysplasia 3, Witkop type	AD	3	189500	MSX1	142983
10q24.32-q25.1	Ectodermal dysplasia 5, hair/nail type	AR	2	614927	ECTD5	614927
11q13.1	?Ectodermal dysplasia 15, hypohidrotic/hair type	AR	3	618535	CST6	601891
12q13.13	Ectodermal dysplasia 4, hair/nail type	AR	3	602032	KRT85	602767
12q13.13	?Ectodermal dysplasia 7, hair/nail type	AR	3	614929	KRT74	608248
12q13.13	Ectodermal dysplasia 9, hair/nail type	AR	3	614931	HOXC13	142976
13q12.11	Ectodermal dysplasia 2, Clouston type	AD	3	129500	GJB6	604418
17p12-q21.2	Ectodermal dysplasia 6, hair/nail type	AR	2	614928	ECTD6	614928
18q22.1-q22.3	Ectodermal dysplasia 8, hair/tooth/nail type	AR	2	602401	ECTD8	602401
21q22.3	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	AR	3	618180	TSPEAR	612920
22q12.1	Ectodermal dysplasia 13, hair/tooth type	AR	3	617392	KREMEN1	609898
Xq13.1	Ectodermal dysplasia 1, hypohidrotic, X-linked	XLR	3	305100	EDA	300451

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Links
Testing GTR EuroGentest X-linked hypohidrotic ecto… Hypohidrotic ectodermal dy…	Protein UniProt	Clinical Resources Clinical Trials EuroGentest X-linked hypohidrotic ecto… Hypohidrotic ectodermal dy… Gene Reviews GTR GARD X-linked hypohidrotic ecto… Hypohidrotic ectodermal dy… OrphaNet X-linked hypohidrotic ecto… Hypohidrotic ectodermal dy… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA	Cell Lines Coriell

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ICD+
SNOMEDCT: 239007005, 7731005 ORPHA: 181, 238468 DO: 0111664

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* 606268. WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A; WNT10A
Cytogenetic location: 2q35, Genomic coordinates (GRCh38): 2:218,874,116-218,893,928
Matching terms: 606268
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q35	Ectodermal dysplasia 16 (odontoonychodermal dysplasia)	257980	AR	3
	Schopf-Schulz-Passarge syndrome	224750	AR	3
	Tooth agenesis, selective, 4	150400	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 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 KEGG Reactome

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ICD+
SNOMEDCT: 403762003, 700062000

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* 606603. EDAR-ASSOCIATED DEATH DOMAIN; EDARADD
Cytogenetic location: 1q42.3-q43, Genomic coordinates (GRCh38): 1:236,348,259-236,484,930
Matching terms: 606603
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q42.3-q43	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	614940	AD	3
1q42.3-q43	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	614941	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 IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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# 614941. ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B
Cytogenetic location: 1q42.3-q43
Matching terms: 614941
► 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
1q42.3-q43	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	614941	AR	3	EDARADD	606603

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Ectodermal dysplasia (select examples) - PS305100 - 18 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.11	?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	AD	3	617337	KDF1	616758
1q42.3-q43	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	AR	3	614941	EDARADD	606603
1q42.3-q43	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	AD	3	614940	EDARADD	606603
2q13	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	AD	3	129490	EDAR	604095
2q13	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	AR	3	224900	EDAR	604095
2q35	Ectodermal dysplasia 16 (odontoonychodermal dysplasia)	AR	3	257980	WNT10A	606268
4p16.2	Ectodermal dysplasia 3, Witkop type	AD	3	189500	MSX1	142983
10q24.32-q25.1	Ectodermal dysplasia 5, hair/nail type	AR	2	614927	ECTD5	614927
11q13.1	?Ectodermal dysplasia 15, hypohidrotic/hair type	AR	3	618535	CST6	601891
12q13.13	Ectodermal dysplasia 4, hair/nail type	AR	3	602032	KRT85	602767
12q13.13	?Ectodermal dysplasia 7, hair/nail type	AR	3	614929	KRT74	608248
12q13.13	Ectodermal dysplasia 9, hair/nail type	AR	3	614931	HOXC13	142976
13q12.11	Ectodermal dysplasia 2, Clouston type	AD	3	129500	GJB6	604418
17p12-q21.2	Ectodermal dysplasia 6, hair/nail type	AR	2	614928	ECTD6	614928
18q22.1-q22.3	Ectodermal dysplasia 8, hair/tooth/nail type	AR	2	602401	ECTD8	602401
21q22.3	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	AR	3	618180	TSPEAR	612920
22q12.1	Ectodermal dysplasia 13, hair/tooth type	AR	3	617392	KREMEN1	609898
Xq13.1	Ectodermal dysplasia 1, hypohidrotic, X-linked	XLR	3	305100	EDA	300451

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Links
Testing GTR EuroGentest Hypohidrotic ectodermal dy… Autosomal recessive hypohi…	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Hypohidrotic ectodermal dy… Autosomal recessive hypohi… Gene Reviews MedlinePlus Genetics GTR GARD Autosomal recessive hypohi… Hypohidrotic ectodermal dy… OrphaNet Hypohidrotic ectodermal dy… Autosomal recessive hypohi…	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 238468, 248 DO: 0111654

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Search: 129490 224900 300451 305100 604095 606268 606603 614941 (Search in: MIM number)

Results: 8 entries.

* 300451. ECTODYSPLASIN A; EDA
ECTODYSPLASIN A1 ISOFORM, INCLUDED
Cytogenetic location: Xq13.1, Genomic coordinates (GRCh38): X:69,616,113-70,039,472
Matching terms: 300451

# 129490. ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A
Cytogenetic location: 2q13
Matching terms: 129490

# 224900. ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B
Cytogenetic location: 2q13
Matching terms: 224900

* 604095. ECTODYSPLASIN A RECEPTOR; EDAR
Cytogenetic location: 2q13, Genomic coordinates (GRCh38): 2:108,894,471-108,989,220
Matching terms: 604095

# 305100. ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED
Cytogenetic location: Xq13.1
Matching terms: 305100

* 606268. WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A; WNT10A
Cytogenetic location: 2q35, Genomic coordinates (GRCh38): 2:218,874,116-218,893,928
Matching terms: 606268

* 606603. EDAR-ASSOCIATED DEATH DOMAIN; EDARADD
Cytogenetic location: 1q42.3-q43, Genomic coordinates (GRCh38): 1:236,348,259-236,484,930
Matching terms: 606603

# 614941. ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B
Cytogenetic location: 1q42.3-q43
Matching terms: 614941

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