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loading...| Preferred Name | PERIODONTITIS, AGGRESSIVE, 1 | |
| Synonyms |
JPD PERIODONTITIS, PREPUBERTAL JP PERIODONTITIS, JUVENILE PPP |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/170650 |
|
| altLabel |
JPD PERIODONTITIS, PREPUBERTAL JP PERIODONTITIS, JUVENILE PPP |
|
| cui |
C4551681 C0031106 |
|
| Gene Locus |
11q14.1-q14.3 |
|
| Gene Symbol |
CPPI CTSC PLS HMS PDON1 PALS JPD |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU011992 http://purl.bioontology.org/ontology/OMIM/MTHU013316 http://purl.bioontology.org/ontology/OMIM/MTHU016253 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
311750 |
|
| notation |
170650 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
PERIODONTITIS, AGGRESSIVE, 1 |
|
| Scope Statement |
Allelic to Papillon-Lefevre syndrome (245000) and Haim-Munk syndrome (245010) [MISCELLANEOUS] Genetic heterogeneity [MISCELLANEOUS] Caused by mutation in the cathepsin C gene (CTSC, 602365.0012) [MOLECULAR BASIS] |
|
| tui |
T047 |
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