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:0002692	HP:0002692	Hypoplastic facial bones	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0002692	HP:0002692	Hypoplastic facial bones	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0002692	HP:0002692	Hypoplastic facial bones	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0002692	HP:0002692	Hypoplastic facial bones	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0002692	HP:0002692	Hypoplastic facial bones	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0002692	HP:0002692	Hypoplastic facial bones	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0002692	HP:0002692	Hypoplastic facial bones	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0002692	HP:0002692	Hypoplastic facial bones	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0002692	HP:0002692	Hypoplastic facial bones	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome		2
HP:0002692	HP:0002692	Hypoplastic facial bones	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome		215
HP:0002692	HP:0002692	Hypoplastic facial bones	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0002692	HP:0002692	Hypoplastic facial bones	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0002692	HP:0002692	Hypoplastic facial bones	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0002692	HP:0002692	Hypoplastic facial bones	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0002692	HP:0002692	Hypoplastic facial bones	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0002692	HP:0002692	Hypoplastic facial bones	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0002692	HP:0002692	Hypoplastic facial bones	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0002692	HP:0002692	Hypoplastic facial bones	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0002692	HP:0002692	Hypoplastic facial bones	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0002692	HP:0002692	Hypoplastic facial bones	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0002692	HP:0002692	Hypoplastic facial bones	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0002692	HP:0002692	Hypoplastic facial bones	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0002692	HP:0002692	Hypoplastic facial bones	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0002692	HP:0002692	Hypoplastic facial bones	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0002692	HP:0002692	Hypoplastic facial bones	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0002692	HP:0002692	Hypoplastic facial bones	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2		645
HP:0002692	HP:0002692	Hypoplastic facial bones	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0002692	HP:0002692	Hypoplastic facial bones	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0002692	HP:0002692	Hypoplastic facial bones	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0002692	HP:0002692	Hypoplastic facial bones	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0002692	HP:0002692	Hypoplastic facial bones	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly		183
HP:0002692	HP:0002692	Hypoplastic facial bones	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0002692	HP:0002692	Hypoplastic facial bones	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0002692	HP:0002692	Hypoplastic facial bones	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0002692	HP:0002692	Hypoplastic facial bones	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0002692	HP:0002692	Hypoplastic facial bones	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0002692	HP:0002692	Hypoplastic facial bones	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency		66
HP:0002692	HP:0002692	Hypoplastic facial bones	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0002692	HP:0002692	Hypoplastic facial bones	0	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3		38
HP:0002692	HP:0002692	Hypoplastic facial bones	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0002692	HP:0002692	Hypoplastic facial bones	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0002692	HP:0002692	Hypoplastic facial bones	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0002692	HP:0002692	Hypoplastic facial bones	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002692	HP:0002692	Hypoplastic facial bones	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0002692	HP:0002692	Hypoplastic facial bones	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0002692	HP:0002692	Hypoplastic facial bones	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia		90
HP:0002692	HP:0002692	Hypoplastic facial bones	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0002692	HP:0002692	Hypoplastic facial bones	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0002692	HP:0002692	Hypoplastic facial bones	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0002692	HP:0002692	Hypoplastic facial bones	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0002692	HP:0002692	Hypoplastic facial bones	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0002692	HP:0002692	Hypoplastic facial bones	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0002692	HP:0002692	Hypoplastic facial bones	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0002692	HP:0002692	Hypoplastic facial bones	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0002692	HP:0002692	Hypoplastic facial bones	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0002692	HP:0002692	Hypoplastic facial bones	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0002692	HP:0002692	Hypoplastic facial bones	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly		2
HP:0002692	HP:0002692	Hypoplastic facial bones	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0002692	HP:0002692	Hypoplastic facial bones	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0002692	HP:0005466	Hypoplasia of the frontal bone	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional	2
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent	215
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0002692	HP:0005466	Hypoplasia of the frontal bone	1	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002692	HP:0010650	Hypoplasia of the premaxilla	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002692	HP:0005466	Hypoplasia of the frontal bone	1	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040282 - Frequent	183
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040283 - Occasional	66
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3		38
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	38
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	31
HP:0002692	HP:0010650	Hypoplasia of the premaxilla	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7	.	665
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent	90
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040281 - Very frequent	49
HP:0002692	HP:0010650	Hypoplasia of the premaxilla	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040283 - Occasional	15
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	140
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent	7
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0002692	HP:0005466	Hypoplasia of the frontal bone	1	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040282 - Frequent	2
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546
HP:0002692	HP:0010669	Hypoplasia of the zygomatic bone	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002692	HP:0005439	Maxillozygomatic hypoplasia	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2