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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | PAPILLON-LEFEVRE SYNDROME | |
| Synonyms |
PLS KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA PALS |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/245000 |
|
| altLabel |
PLS KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA PALS
|
|
| cui |
C0030360
|
|
| Gene Locus |
11q14.1-q14.3
|
|
| Gene Symbol |
CPPI CTSC PLS HMS PDON1 PALS JPD
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU012007 http://purl.bioontology.org/ontology/OMIM/MTHU012004 http://purl.bioontology.org/ontology/OMIM/MTHU011991 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
245000
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
PAPILLON-LEFEVRE SYNDROME
|
|
| Scope Statement |
Caused by mutation in the cathepsin C gene (CTSC, 602365.0001) [MOLECULAR BASIS]
|
|
| tui |
T047
|
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