ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED

ECTODERMAL DYSPLASIA 1

http://purl.bioontology.org/ontology/OMIM/305100

ECTODERMAL DYSPLASIA 1

HED1

XLHED

ECTD1

CST SYNDROME

CHRIST-SIEMENS-TOURAINE SYNDROME

XHED

ECTODERMAL DYSPLASIA, ANHIDROTIC, X-LINKED

ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1

EDA

ED1

EDA1

ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED

C0162359

Xq12-q13.1

ED1

STHAGX1

EDA

ECTD1

HED1

http://purl.bioontology.org/ontology/OMIM/MTHU001816

http://purl.bioontology.org/ontology/OMIM/MTHU007741

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU007737

http://purl.bioontology.org/ontology/OMIM/MTHU005109

http://purl.bioontology.org/ontology/OMIM/MTHU022666

http://purl.bioontology.org/ontology/OMIM/MTHU007736

http://purl.bioontology.org/ontology/OMIM/MTHU003535

http://purl.bioontology.org/ontology/OMIM/MTHU022667

http://purl.bioontology.org/ontology/OMIM/MTHU007740

http://purl.bioontology.org/ontology/OMIM/MTHU007760

http://purl.bioontology.org/ontology/OMIM/MTHU000435

http://purl.bioontology.org/ontology/OMIM/MTHU001050

http://purl.bioontology.org/ontology/OMIM/MTHU007738

http://purl.bioontology.org/ontology/OMIM/MTHU007764

http://purl.bioontology.org/ontology/OMIM/MTHU007734

http://purl.bioontology.org/ontology/OMIM/MTHU007743

http://purl.bioontology.org/ontology/OMIM/MTHU007749

http://purl.bioontology.org/ontology/OMIM/MTHU007747

http://purl.bioontology.org/ontology/OMIM/MTHU007752

http://purl.bioontology.org/ontology/OMIM/MTHU036695

http://purl.bioontology.org/ontology/OMIM/MTHU007759

http://purl.bioontology.org/ontology/OMIM/MTHU022668

http://purl.bioontology.org/ontology/OMIM/MTHU002599

http://purl.bioontology.org/ontology/OMIM/MTHU002744

http://purl.bioontology.org/ontology/OMIM/MTHU007756

http://purl.bioontology.org/ontology/OMIM/MTHU007750

http://purl.bioontology.org/ontology/OMIM/MTHU007755

http://purl.bioontology.org/ontology/OMIM/MTHU038283

http://purl.bioontology.org/ontology/OMIM/MTHU038284

http://purl.bioontology.org/ontology/OMIM/MTHU007745

http://purl.bioontology.org/ontology/OMIM/MTHU007765

http://purl.bioontology.org/ontology/OMIM/MTHU002570

http://purl.bioontology.org/ontology/OMIM/MTHU007746

http://purl.bioontology.org/ontology/OMIM/MTHU036385

http://purl.bioontology.org/ontology/OMIM/MTHU007728

http://purl.bioontology.org/ontology/OMIM/MTHU007729

http://purl.bioontology.org/ontology/OMIM/MTHU007748

http://purl.bioontology.org/ontology/OMIM/MTHU007758

http://purl.bioontology.org/ontology/OMIM/MTHU007742

http://purl.bioontology.org/ontology/OMIM/MTHU007753

http://purl.bioontology.org/ontology/OMIM/MTHU007751

http://purl.bioontology.org/ontology/OMIM/MTHU002202

http://purl.bioontology.org/ontology/OMIM/MTHU007730

http://purl.bioontology.org/ontology/OMIM/MTHU007731

http://purl.bioontology.org/ontology/OMIM/MTHU007733

http://purl.bioontology.org/ontology/OMIM/MTHU007757

http://purl.bioontology.org/ontology/OMIM/MTHU007727

http://purl.bioontology.org/ontology/OMIM/MTHU002110

http://purl.bioontology.org/ontology/OMIM/MTHU006914

http://purl.bioontology.org/ontology/OMIM/MTHU007744

http://purl.bioontology.org/ontology/OMIM/MTHU007735

Phenotype description, molecular basis known.

305100

3

pound

ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED

Caused by mutation in the ectodysplasin A gene (ED1, 300451.0001) [MOLECULAR BASIS]

Heterozygous females show variable expressivity (mild to severe manifestations) including hypodontia, conical teeth, reduction in scalp/body hair, and difficulty nursing [MISCELLANEOUS]

Genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) [MISCELLANEOUS]

T047