Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010807	HP:0010807	Open bite	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0010807	HP:0010807	Open bite	0	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE		17
HP:0010807	HP:0010807	Open bite	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0010807	HP:0010807	Open bite	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome		5
HP:0010807	HP:0010807	Open bite	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010807	HP:0010807	Open bite	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010807	HP:0010807	Open bite	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		13
HP:0010807	HP:0010807	Open bite	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0010807	HP:0010807	Open bite	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010807	HP:0010807	Open bite	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010807	HP:0010807	Open bite	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent	38
HP:0010807	HP:0010807	Open bite	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010807	HP:0010807	Open bite	0	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III		38
HP:0010807	HP:0010807	Open bite	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0010807	HP:0010807	Open bite	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0010807	HP:0010807	Open bite	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010807	HP:0010807	Open bite	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0010807	HP:0010807	Open bite	0	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC		50
HP:0010807	HP:0010807	Open bite	0	FAM83H CL E G H	286077	24797	OMIM:130900	Amelogenesis imperfecta, type III		22
HP:0010807	HP:0010807	Open bite	0	FGFR2 CL E G H	2263	3689	ORPHA:168624	Familial scaphocephaly syndrome, McGillivray type	HP:0040282 - Frequent	175
HP:0010807	HP:0010807	Open bite	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0010807	HP:0010807	Open bite	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0010807	HP:0010807	Open bite	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010807	HP:0010807	Open bite	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0010807	HP:0010807	Open bite	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0010807	HP:0010807	Open bite	0	GPR68 CL E G H	8111	4519	OMIM:617217	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6		3
HP:0010807	HP:0010807	Open bite	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0010807	HP:0010807	Open bite	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0010807	HP:0010807	Open bite	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0010807	HP:0010807	Open bite	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0010807	HP:0010807	Open bite	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0010807	HP:0010807	Open bite	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0010807	HP:0010807	Open bite	0	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H		8
HP:0010807	HP:0010807	Open bite	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome		13
HP:0010807	HP:0010807	Open bite	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome		7
HP:0010807	HP:0010807	Open bite	0	KLK4 CL E G H	9622	6365	OMIM:204700	Amelogenesis imperfecta, hypomaturation type, iia1		6
HP:0010807	HP:0010807	Open bite	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010807	HP:0010807	Open bite	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0010807	HP:0010807	Open bite	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0010807	HP:0010807	Open bite	0	MMP20 CL E G H	9313	7167	OMIM:612529	Amelogenesis imperfecta, hypomaturation type, iia2		37
HP:0010807	HP:0010807	Open bite	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0010807	HP:0010807	Open bite	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0010807	HP:0010807	Open bite	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	2
HP:0010807	HP:0010807	Open bite	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0010807	HP:0010807	Open bite	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0010807	HP:0010807	Open bite	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040283 - Occasional	113
HP:0010807	HP:0010807	Open bite	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent
HP:0010807	HP:0010807	Open bite	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	38
HP:0010807	HP:0010807	Open bite	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	31
HP:0010807	HP:0010807	Open bite	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0010807	HP:0010807	Open bite	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040283 - Occasional	134
HP:0010807	HP:0010807	Open bite	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent	948
HP:0010807	HP:0010807	Open bite	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040283 - Occasional	150
HP:0010807	HP:0010807	Open bite	0	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:0010807	HP:0010807	Open bite	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010807	HP:0010807	Open bite	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	120
HP:0010807	HP:0010807	Open bite	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040282 - Frequent	90
HP:0010807	HP:0010807	Open bite	0	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	.	29
HP:0010807	HP:0010807	Open bite	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010807	HP:0010807	Open bite	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010807	HP:0010807	Open bite	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	140
HP:0010807	HP:0010807	Open bite	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010807	HP:0010807	Open bite	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0010807	HP:0010807	Open bite	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010807	HP:0010807	Open bite	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0010807	HP:0200094	Frontal open bite	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0010807	HP:0009102	Anterior open-bite malocclusion	1	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE	.	17
HP:0010807	HP:0009102	Anterior open-bite malocclusion	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	5
HP:0010807	HP:0009102	Anterior open-bite malocclusion	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0010807	HP:0009102	Anterior open-bite malocclusion	1	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III		38
HP:0010807	HP:0009102	Anterior open-bite malocclusion	1	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC	.	50
HP:0010807	HP:0009102	Anterior open-bite malocclusion	1	FAM83H CL E G H	286077	24797	OMIM:130900	Amelogenesis imperfecta, type III	.	22
HP:0010807	HP:0009102	Anterior open-bite malocclusion	1	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0010807	HP:0009102	Anterior open-bite malocclusion	1	GPR68 CL E G H	8111	4519	OMIM:617217	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6		3
HP:0010807	HP:0009102	Anterior open-bite malocclusion	1	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H		8
HP:0010807	HP:0009102	Anterior open-bite malocclusion	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	13
HP:0010807	HP:0009102	Anterior open-bite malocclusion	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	7
HP:0010807	HP:0009102	Anterior open-bite malocclusion	1	KLK4 CL E G H	9622	6365	OMIM:204700	Amelogenesis imperfecta, hypomaturation type, iia1	HP:0040284 - Very rare	6
HP:0010807	HP:0009102	Anterior open-bite malocclusion	1	MMP20 CL E G H	9313	7167	OMIM:612529	Amelogenesis imperfecta, hypomaturation type, iia2	HP:0040283 - Occasional	37
HP:0010807	HP:0009102	Anterior open-bite malocclusion	1	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC	.