Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [ektodermální dysplazie hypohidrotická autozomálně recesivní]

topical
2
Terms

anhidrotická ektodermální dysplazie autozomálně recesivní

 

Anhidridic Ectodermal Dysplasia, Autosomal Recessive
Anhidrotic Ectodermal Dysplasia, Autosomal Recessive
Anhydridic Ectodermal Dysplasia, Autosomal Recessive
Autosomal Recessive Anhidrotic Ectodermal Dysplasia
Autosomal Recessive Anhydrotic Ectodermal Dysplasia
Ectodermal Dysplasia, Anhidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohydrotic, Autosomal Recessive

Persistent link   https://www.medvik.cz/link/D053360
Definition

An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN.

DUI
D053360 MeSH Browser
CUI
M0492750
Previous indexing
Ectodermal Dysplasia (1971-2006)
History note
2007
Public note
2007

C Diseases
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.350.398 Ellis-Van Creveld Syndrome 11
C16.131.077.350.424 Focal Dermal Hypoplasia 6
C16.131.077.350.712 Neurocutaneous Syndromes 29
C16.131.077.350.856 Pachyonychia Congenita 3
C16.131.831 Skin Abnormalities 51
C16.131.831.350 Ectodermal Dysplasia 33
C16.131.831.350.398 Ellis-Van Creveld Syndrome 11
C16.131.831.350.424 Focal Dermal Hypoplasia 6
C16.131.831.350.712 Neurocutaneous Syndromes 29
C16.131.831.350.856 Pachyonychia Congenita 3
C16.320.850.250 Ectodermal Dysplasia 33
C16.320.850.250.398 Ellis-Van Creveld Syndrome 11
C16.320.850.250.424 Focal Dermal Hypoplasia 6
C16.320.850.250.712 Neurocutaneous Syndromes 29
C16.320.850.250.856 Pachyonychia Congenita 3
C17.800 Skin Diseases 2 799
C17.800.804 Skin Abnormalities 51
C17.800.804.350 Ectodermal Dysplasia 33
C17.800.804.350.398 Ellis-Van Creveld Syndrome 11
C17.800.804.350.424 Focal Dermal Hypoplasia 6
C17.800.804.350.712 Neurocutaneous Syndromes 29
C17.800.804.350.856 Pachyonychia Congenita 3
C17.800.827.250 Ectodermal Dysplasia 33
C17.800.827.250.398 Ellis-Van Creveld Syndrome 11
C17.800.827.250.424 Focal Dermal Hypoplasia 6
C17.800.827.250.712 Neurocutaneous Syndromes 29
C17.800.827.250.856 Pachyonychia Congenita 3