Search on: PACHYONYCHIA CONGENITA, TYPE 1 
Descriptors Found: 1
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Descriptor English:   Pachyonychia Congenita 
Descriptor Spanish:   Paquioniquia Congénita 
Descriptor Portuguese:   Paquioníquia Congênita 
Synonyms English:   Congenital Pachyonychia
Jackson Lawler Syndrome (Pc 2)
Jackson Lawler Type Pachyonychia Congenita
Jackson-Lawler Syndrome (Pc-2)
Jackson-Lawler Type Pachyonychia Congenita
Jadassohn Lewandowski Syndrome (Pc 1)
Jadassohn Lewandowsky Syndrome
Jadassohn-Lewandowski Syndrome (Pc-1)
Jadassohn-Lewandowsky Syndrome
Pachyonychia Congenita Jackson Lawler Type
Pachyonychia Congenita Syndrome
Pachyonychia Congenita Tarda, Type 1
Pachyonychia Congenita Type 1
Pachyonychia Congenita, Jackson Lawler Type
Pachyonychia Congenita, Jackson-Lawler Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn-Lewandowsky Type
Pachyonychia Congenita, Type 1
Pachyonychia Congenita, Type 2
Pachyonychia, Congenital
Syndrome, Jackson-Lawler (Pc-2)
Syndrome, Jadassohn-Lewandowski (Pc-1)
Type 1 Pachyonychia Congenita
Type 2 Pachyonychia Congenita  
Tree Number:   C16.131.077.350.856
C16.131.831.350.856
C16.320.850.250.856
C17.800.529.594
C17.800.804.350.856
C17.800.827.250.856
Definition English:   A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS. 
See Related English:   Keratin-17
Keratin-6
Nails, Malformed
 
History Note English:   2007 
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:   52142 
Unique Identifier:   D053549 

Occurrence in VHL: 		 

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