Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive (ECTD10B)

Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive(来自ICD-11)
别称:
Hypohidrotic Ectodermal Dysplasia
Anhidrotic Ectodermal Dysplasia
Hed
Christ-Siemens-Touraine Syndrome
Ectodermal Dysplasia, Hypohidrotic
Ectodermal Dysplasia Anhidrotic
Ectd10b
Eda
Dysplasia, Ectodermal, Type 10b, Hypohidrotic/hair/tooth, Autosomal Recessive
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive
Dysplasia, Ectodermal, Hypohidrotic
Ectodermal Dysplasia 3, Anhidrotic
Ectodermal Dysplasia, Anhidrotic
Cst Syndrome
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References Literature
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive, also known as hypohidrotic ectodermal dysplasia, is related to ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant and ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive, and has symptoms including dyspnea, dry skin and koilonychia. An important gene associated with Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive is EDAR (Ectodysplasin A Receptor), and among its related pathways/superpathways are Innate Immune System and Signal Transduction. The drugs Immunoglobulins and Melatonin have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are abnormality of the dentition and abnormal facial shape
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相关ID:
MESH:D004476
ICD11:673167184

基础信息

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参考文献
MALACARDS
XLD
AD
AR
XL
Newborn
1-9/100000
46
520
59

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