Search on: FOCAL DERMAL HYPOPLASIA 
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Descriptor English:   Focal Dermal Hypoplasia 
Descriptor Spanish:   Hipoplasia Dérmica Focal 
Descriptor Portuguese:   Hipoplasia Dérmica Focal 
Synonyms English:   Dermal Hypoplasia, Focal
Dermal Hypoplasias, Focal
Focal Dermal Hypoplasias
Goltz Gorlin Syndrome
Goltz Syndrome
Goltz's Syndrome
Goltz-Gorlin Syndrome
Goltzs Syndrome
Gorlin Syndrome, Goltz
Hypoplasia, Focal Dermal
Hypoplasias, Focal Dermal
Syndrome, Goltz
Syndrome, Goltz Gorlin
Syndrome, Goltz's
Syndrome, Goltz-Gorlin  
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
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   22468 
Unique Identifier:   D005489 

Occurrence in VHL: 		 

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