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PACHYONYCHIA CONGENITA
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DeCS
Descriptor
English
:
Pachyonychia Congenita
Descriptor
Spanish
:
Paquioniquia Congénita
Descriptor
Portuguese
:
Paquioníquia Congênita
Synonyms
English
:
Pachyonychia Congenita, Type 1
Pachyonychia Congenita, Type 2
Tree Number:
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
:
Nails, Malformed
History Note
English
:
2007
Allowable Qualifiers
English
:
blood
cerebrospinal fluid
chemically induced
classification
complications
diet therapy
diagnosis
drug therapy
economics
ethnology
embryology
enzymology
epidemiology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
pathology
prevention & control
physiopathology
parasitology
psychology
radiography
rehabilitation
radionuclide imaging
radiotherapy
surgery
therapy
ultrastructure
urine
ultrasonography
veterinary
virology
Record Number:
52142
Unique Identifier:
D053549
Occurrence in VHL
:
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