Search on: GOLTZ SYNDROME 
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Descriptor English:   Focal Dermal Hypoplasia 
Descriptor Spanish:   Hipoplasia Dérmica Focal 
Descriptor Portuguese:   Hipoplasia Dérmica Focal 
Synonyms English:   Dermal Hypoplasia, Focal
Goltz Syndrome
Goltz Gorlin Syndrome  
Tree Number:   C05.116.099.370.380
C16.131.077.350.424
C16.131.831.350.424
C16.320.322.186
C16.320.850.250.424
C17.800.804.350.424
C17.800.827.250.424
Definition English:   A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait. 
Indexing Annotation English:   do not confuse entry term GOLTZ-GORLIN SYNDROME with GORLIN-GOLTZ SYNDROME see BASAL CELL NEVUS SYNDROME
History Note English:   91(85); was see under ECTODERMAL DYSPLASIA 1987-90, was see under ECTODERMAL DEFECT, CONGENITAL 1985-86; GOLTZ-GORLIN SYNDROME was see FOCAL DERMAL HYPOPLASIA 1985-92 
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:   22468 
Unique Identifier:   D005489 

Occurrence in VHL:
 

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