Human Phenotype Ontology

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:0000704	HP:0000704	Periodontitis	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0000704	HP:0000704	Periodontitis	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000704	HP:0000704	Periodontitis	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.		15
HP:0000704	HP:0000704	Periodontitis	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent		15
HP:0000704	HP:0000704	Periodontitis	0	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	.		7
HP:0000704	HP:0000704	Periodontitis	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent		7
HP:0000704	HP:0000704	Periodontitis	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia			5
HP:0000704	HP:0000704	Periodontitis	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent		38
HP:0000704	HP:0000704	Periodontitis	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.		749
HP:0000704	HP:0000704	Periodontitis	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0000704	HP:0000704	Periodontitis	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		160
HP:0000704	HP:0000704	Periodontitis	0	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome			50
HP:0000704	HP:0000704	Periodontitis	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040281 - Very frequent		50
HP:0000704	HP:0000704	Periodontitis	0	CTSC CL E G H	1075	2528	OMIM:245000	Papillon-Lefevre syndrome			50
HP:0000704	HP:0000704	Periodontitis	0	CTSC CL E G H	1075	2528	OMIM:170650	Periodontitis, aggressive, 1			50
HP:0000704	HP:0000704	Periodontitis	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome			9
HP:0000704	HP:0000704	Periodontitis	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		65
HP:0000704	HP:0000704	Periodontitis	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent		79
HP:0000704	HP:0000704	Periodontitis	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional		79
HP:0000704	HP:0000704	Periodontitis	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent		136
HP:0000704	HP:0000704	Periodontitis	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome	.		136
HP:0000704	HP:0000704	Periodontitis	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040282 - Frequent		18
HP:0000704	HP:0000704	Periodontitis	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent		56
HP:0000704	HP:0000704	Periodontitis	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0000704	HP:0000704	Periodontitis	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I	.		114
HP:0000704	HP:0000704	Periodontitis	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent		239
HP:0000704	HP:0000704	Periodontitis	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000704	HP:0000704	Periodontitis	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000704	HP:0000704	Periodontitis	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		27
HP:0000704	HP:0000704	Periodontitis	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		17
HP:0000704	HP:0000704	Periodontitis	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent		138
HP:0000704	HP:0000704	Periodontitis	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		12
HP:0000704	HP:0000704	Periodontitis	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0000704	HP:0000704	Periodontitis	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		26
HP:0000704	HP:0000704	Periodontitis	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040283 - Occasional		11
HP:0000704	HP:0000704	Periodontitis	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.		11
HP:0000704	HP:0000704	Periodontitis	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		77
HP:0000704	HP:0000704	Periodontitis	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc	.		71
HP:0000704	HP:0000704	Periodontitis	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000704	HP:0000704	Periodontitis	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional		110
HP:0000704	HP:0000704	Periodontitis	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0000704	HP:0000704	Periodontitis	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent		82
HP:0000704	HP:0000704	Periodontitis	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		48
HP:0000704	HP:0000704	Periodontitis	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		238
HP:0000704	HP:0000704	Periodontitis	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		60
HP:0000704	HP:0000704	Periodontitis	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		1
HP:0000704	HP:0000704	Periodontitis	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		8
HP:0000704	HP:0000704	Periodontitis	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		40
HP:0000704	HP:0011059	Localized periodontitis	1	CL E G H
HP:0000704	HP:0011058	Generalized periodontitis	1	CL E G H
HP:0000704	HP:0000166	Severe periodontitis	1	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040283 - Occasional		5
HP:0000704	HP:0000166	Severe periodontitis	1	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome	.	HP:0003593 - Infantile onset	50
HP:0000704	HP:0000166	Severe periodontitis	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040281 - Very frequent		50
HP:0000704	HP:0000166	Severe periodontitis	1	CTSC CL E G H	1075	2528	OMIM:245000	Papillon-Lefevre syndrome	.	HP:0003593 - Infantile onset	50
HP:0000704	HP:0000166	Severe periodontitis	1	CTSC CL E G H	1075	2528	OMIM:170650	Periodontitis, aggressive, 1	.	HP:0003593 - Infantile onset	50
HP:0000704	HP:0000166	Severe periodontitis	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040284 - Very rare		9
HP:0000704	HP:0000166	Severe periodontitis	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71