Search on: ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE 
Descriptors Found: 1
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Descriptor English:   Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 
Descriptor Spanish:   Displasia Ectodérmica Hipohidrótica Autosómica Recesiva 
Descriptor Portuguese:   Displasia Ectodérmica Hipo-Hidrótica Autossômica Recessiva 
Tree Number:   C16.131.077.350.348
C16.131.831.350.348
C16.320.850.250.348
C17.800.804.350.348
C17.800.827.250.348
Definition English:   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. 
See Related English:   Edar Receptor
Edar-Associated Death Domain Protein
 
History Note English:   2007 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   52141 
Unique Identifier:   D053360 

Occurrence in VHL:
 

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