Definition

A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.

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Synonyms

Christ-Siemens-Touraine syndrome
CST syndrome

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

Gene

Species

Association

Disease Qualifier

Disease

Evidence

Based On

Source

References

EDA

Annotation details

Name	Type	Association	Additional implicated genes	Experimental condition	Genetic Modifiers	Strain Background	Genetic Sex	Notes	Annotation type	Evidence Codes	Source	References
EDA	Gene	is implicated in								IAGP	RGD	PMID:8696334
EDA	Gene	is implicated in								IAGP	OMIM via RGD	RGD:7240710

Homo sapiens

is implicated in

ectodermal dysplasia 1

IAGP

RGD
OMIM via RGD

Eda

Rattus norvegicus

is implicated via orthology

ectodermal dysplasia 1

IEA

EDA (Hsa)

Alliance

MGI:6194238

Eda

Mus musculus

is implicated via orthology

ectodermal dysplasia 1

IEA

EDA (Hsa)

Alliance

MGI:6194238

eda

Xenopus tropicalis

is implicated via orthology

ectodermal dysplasia 1

IEA

EDA (Hsa)

Alliance

MGI:6194238

eda

Danio rerio

is implicated via orthology

ectodermal dysplasia 1

IEA

EDA (Hsa)

Alliance

MGI:6194238

egr

Drosophila melanogaster

is implicated via orthology

ectodermal dysplasia 1

IEA

EDA (Hsa)

Alliance

MGI:6194238

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Associated Alleles

No data available

Associated Models

No data available