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Date: Tue Jan 28 2025
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pachyonychia congenita
DOID:0050449
Summary
Associated Genes
Associated Alleles
Associated Models
Disease
pachyonychia congenita
Definition
A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin.
[1]
Synonyms
Jackson-Lawler Type Pachyonychia Congenita
Jadassohn-Lewandowsky Syndrome
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Cross References
GARD:10753
MESH:D053549
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Parent Terms
autosomal dominant disease
syndrome
Child Terms
None
Sources of Associations
RGD
MGI
ZFIN
FB
WB
SGD
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