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DeCS
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Descriptor English:
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Papillon-Lefevre Disease
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Descriptor Spanish:
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Enfermedad de Papillon-Lefevre
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Descriptor Portuguese:
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Doença de Papillon-Lefevre
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Synonyms English:
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Haim Monk Syndrome
Haim-Monk Syndrome
Keratosis Palmoplantar Periodontopathies
Keratosis Palmoplantar Periodontopathy
Keratosis Palmoplantaris with Periodontopathia
Palmoplantar Periodontopathies, Keratosis
Papillon Lefevre Disease
Papillon Lefevre Syndrome
Papillon-Lefevre Syndrome
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Tree Number:
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C16.320.850.475.600
C17.800.428.435.600
C17.800.827.475.600
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Definition English:
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Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease. |
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See Related English:
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Cathepsin C
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History Note English:
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91(75); was see under KERATOSIS PALMARIS ET PLANTARIS 1975-90 (which became KERATODERMA, PALMOPLANTAR 1993)
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Allowable Qualifiers English:
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Record Number:
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10401
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Unique Identifier:
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D010214
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Occurrence in VHL:
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Similar:
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DeCS
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