Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the dentition (HP:0000164)

Grandparent Node:
Abnormality of the gingiva (HP:0000168)

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Periodontitis (HP:0000704)

..Starting node
..Severe periodontitis (HP:0000166)

Term ID:

166

Name:

Severe periodontitis

Synonym:

Severe gum disease; Severe periodontal disease; Severe pyorrhea

Definition:

A severe form of periodontitis.

Comments:

Reference:

HP:0000166

Genes and Diseases:

Child Nodes:

Sister Nodes:

Generalized periodontitis (HP:0011058)

Localized periodontitis (HP:0011059)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000166	HP:0000166	Severe periodontitis	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040283 - Occasional		5
HP:0000166	HP:0000166	Severe periodontitis	0	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome	.	HP:0003593 - Infantile onset	50
HP:0000166	HP:0000166	Severe periodontitis	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040281 - Very frequent		50
HP:0000166	HP:0000166	Severe periodontitis	0	CTSC CL E G H	1075	2528	OMIM:245000	Papillon-Lefevre syndrome	.	HP:0003593 - Infantile onset	50
HP:0000166	HP:0000166	Severe periodontitis	0	CTSC CL E G H	1075	2528	OMIM:170650	Periodontitis, aggressive, 1	.	HP:0003593 - Infantile onset	50
HP:0000166	HP:0000166	Severe periodontitis	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040284 - Very rare		9
HP:0000166	HP:0000166	Severe periodontitis	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71

Genes (4) :CAT CTSC CXCR4 SLC35C1

Diseases (7) :ORPHA:926 OMIM:245010 ORPHA:678 OMIM:245000 OMIM:170650 ORPHA:51636 ORPHA:99843

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.