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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D010214
http://purl.bioontology.org/ontology/MESH/D010214
|
|---|---|
| Preferred Name | Papillon-Lefevre Disease |
| Definitions |
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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| Synonyms |
Papillon Lefevre Disease
Haim Monk Syndrome
Palmoplantar Periodontopathies, Keratosis
Papillon Lefevre Syndrome
Keratosis Palmoplantar Periodontopathies
Papillon-Lefevre Syndrome
Keratosis Palmoplantaris with Periodontopathia
Haim-Monk Syndrome
Keratosis Palmoplantar Periodontopathy
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. |
|---|---|
| altLabel |
Papillon Lefevre Disease
Haim Monk Syndrome
Palmoplantar Periodontopathies, Keratosis
Papillon Lefevre Syndrome
Keratosis Palmoplantar Periodontopathies
Papillon-Lefevre Syndrome
Keratosis Palmoplantaris with Periodontopathia
Haim-Monk Syndrome
Keratosis Palmoplantar Periodontopathy
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| prefLabel | Papillon-Lefevre Disease
|
| Machine permutation | 91; was see under KERATOSIS PALMARIS ET PLANTARIS 1975-90 (which became KERATODERMA, PALMOPLANTAR 1993)
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| HN | 91(75); was see under KERATOSIS PALMARIS ET PLANTARIS 1975-90 (which became KERATODERMA, PALMOPLANTAR 1993)
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| Mapped from | |
| type | |
| tui | T047
|
| TERMUI |
T030200
T746752
T746751
T746750
T030201
T746753
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| TH |
OMIM (2013)
NLM (1993)
NLM (1975)
NLM (2010)
ORD (2010)
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| MMR | 20150622
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| notation | D010214
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| Inverse of RO | |
| Semantic type UMLS property | |
| Inverse of AQ |
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| FX | D020789
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| DX | 19910101
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| cui |
C2713394
C0030360
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| DC | 1
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| MN |
C17.800.428.435.600
C17.800.827.475.600
C16.320.850.475.600
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| AQL | BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
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| OL | search KERATODERMA, PALMOPLANTAR 1974
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| MDA | 19990101
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |