loading...| Preferred Name |
Papillon-Lefevre Disease |
|
| Synonyms |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D010214 |
|
| 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 |
|
| 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 |
|
| cui |
C2713394 C0030360 |
|
| DC |
1 |
|
| 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. |
|
| DX |
19910101 |
|
| FX |
D020789 |
|
| HN |
91(75); was see under KERATOSIS PALMARIS ET PLANTARIS 1975-90 (which became KERATODERMA, PALMOPLANTAR 1993) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
91; was see under KERATOSIS PALMARIS ET PLANTARIS 1975-90 (which became KERATODERMA, PALMOPLANTAR 1993) |
|
| Mapped from | ||
| MDA |
19990101 |
|
| MMR |
20150622 |
|
| MN |
C17.800.428.435.600 C17.800.827.475.600 C16.320.850.475.600 |
|
| notation |
D010214 |
|
| OL |
search KERATODERMA, PALMOPLANTAR 1974 |
|
| prefLabel |
Papillon-Lefevre Disease |
|
| TERMUI |
T030200 T746752 T746751 T746750 T030201 T746753 |
|
| TH |
OMIM (2013) NLM (1993) NLM (1975) NLM (2010) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |