Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/170650 http://purl.bioontology.org/ontology/OMIM/170650
Preferred Name	PERIODONTITIS, AGGRESSIVE, 1
Synonyms	JPD PERIODONTITIS, PREPUBERTAL JP PERIODONTITIS, JUVENILE PPP
Type	http://www.w3.org/2002/07/owl#Class

altLabel	JPD PERIODONTITIS, PREPUBERTAL JP PERIODONTITIS, JUVENILE PPP
prefLabel	PERIODONTITIS, AGGRESSIVE, 1
Gene Symbol	CPPI CTSC PLS HMS PDON1 PALS JPD See more See less
notation	170650
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]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
Moved from	311750
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU011992 http://purl.bioontology.org/ontology/OMIM/MTHU013316 http://purl.bioontology.org/ontology/OMIM/MTHU016253 http://purl.bioontology.org/ontology/OMIM/MTHU011991 http://purl.bioontology.org/ontology/OMIM/MTHU036702
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	11q14.1-q14.3
tui	T047
cui	C4551681 C0031106

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