Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal facial shape (HP:0001999)

Parent Node:
Small face (HP:0000274)

..Starting node
..Narrow face (HP:0000275)

Term ID:

275

Name:

Narrow face

Synonym:

Decreased breadth of face; Decreased horizontal dimension of face; Decreased transverse dimension of face; Decreased width of face; Horizontal deficiency of face; Horizontal hypoplasia of face; Horizontal insufficiency of face; Narrow face; Narrow facies; Thin face; Thin facies; Transverse deficiency of face; Transverse hypoplasia of face; Transverse insufficiency of face

Definition:

Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).

Comments:

Reference:

HP:0000275

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short face (HP:0011219)

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:0000275	HP:0000275	Narrow face	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		96
HP:0000275	HP:0000275	Narrow face	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0000275	HP:0000275	Narrow face	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0000275	HP:0000275	Narrow face	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0000275	HP:0000275	Narrow face	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.		48
HP:0000275	HP:0000275	Narrow face	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		1
HP:0000275	HP:0000275	Narrow face	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.		192
HP:0000275	HP:0000275	Narrow face	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		168
HP:0000275	HP:0000275	Narrow face	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		1
HP:0000275	HP:0000275	Narrow face	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000275	HP:0000275	Narrow face	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000275	HP:0000275	Narrow face	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.		101
HP:0000275	HP:0000275	Narrow face	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040282 - Frequent		101
HP:0000275	HP:0000275	Narrow face	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent		314
HP:0000275	HP:0000275	Narrow face	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.		314
HP:0000275	HP:0000275	Narrow face	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000275	HP:0000275	Narrow face	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		20
HP:0000275	HP:0000275	Narrow face	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		161
HP:0000275	HP:0000275	Narrow face	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000275	HP:0000275	Narrow face	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		146
HP:0000275	HP:0000275	Narrow face	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0000275	HP:0000275	Narrow face	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0000275	HP:0000275	Narrow face	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel	.		53
HP:0000275	HP:0000275	Narrow face	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000275	HP:0000275	Narrow face	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000275	HP:0000275	Narrow face	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000275	HP:0000275	Narrow face	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.		13
HP:0000275	HP:0000275	Narrow face	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000275	HP:0000275	Narrow face	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0000275	HP:0000275	Narrow face	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.		158
HP:0000275	HP:0000275	Narrow face	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.		135
HP:0000275	HP:0000275	Narrow face	0	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000275	HP:0000275	Narrow face	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.		1361
HP:0000275	HP:0000275	Narrow face	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.		384
HP:0000275	HP:0000275	Narrow face	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000275	HP:0000275	Narrow face	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040282 - Frequent		30
HP:0000275	HP:0000275	Narrow face	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000275	HP:0000275	Narrow face	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000275	HP:0000275	Narrow face	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000275	HP:0000275	Narrow face	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia	.
HP:0000275	HP:0000275	Narrow face	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		80
HP:0000275	HP:0000275	Narrow face	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		13
HP:0000275	HP:0000275	Narrow face	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0000275	HP:0000275	Narrow face	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0000275	HP:0000275	Narrow face	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000275	HP:0000275	Narrow face	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0000275	HP:0000275	Narrow face	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0000275	HP:0000275	Narrow face	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0000275	HP:0000275	Narrow face	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent		228
HP:0000275	HP:0000275	Narrow face	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0000275	HP:0000275	Narrow face	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000275	HP:0000275	Narrow face	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0000275	HP:0000275	Narrow face	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000275	HP:0000275	Narrow face	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0000275	HP:0000275	Narrow face	0	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		166
HP:0000275	HP:0000275	Narrow face	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0000275	HP:0000275	Narrow face	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		217
HP:0000275	HP:0000275	Narrow face	0	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		48
HP:0000275	HP:0000275	Narrow face	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0000275	HP:0000275	Narrow face	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		745
HP:0000275	HP:0000275	Narrow face	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0000275	HP:0000275	Narrow face	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent		40
HP:0000275	HP:0000275	Narrow face	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0000275	HP:0000275	Narrow face	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0000275	HP:0000275	Narrow face	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.		88
HP:0000275	HP:0000275	Narrow face	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.		22
HP:0000275	HP:0000275	Narrow face	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent		144
HP:0000275	HP:0000275	Narrow face	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		544
HP:0000275	HP:0000275	Narrow face	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000275	HP:0000275	Narrow face	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0000275	HP:0000275	Narrow face	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0000275	HP:0000275	Narrow face	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0000275	HP:0000275	Narrow face	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0000275	HP:0000275	Narrow face	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0000275	HP:0000275	Narrow face	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040281 - Very frequent		59
HP:0000275	HP:0000275	Narrow face	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0000275	HP:0000275	Narrow face	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		531
HP:0000275	HP:0000275	Narrow face	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		11
HP:0000275	HP:0000275	Narrow face	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0000275	HP:0000275	Narrow face	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		HP:0003621 - Juvenile onset	28
HP:0000275	HP:0000275	Narrow face	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040281 - Very frequent		28
HP:0000275	HP:0000275	Narrow face	0	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040282 - Frequent		28
HP:0000275	HP:0000275	Narrow face	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040283 - Occasional		28
HP:0000275	HP:0000275	Narrow face	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		68
HP:0000275	HP:0000275	Narrow face	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional		445
HP:0000275	HP:0000275	Narrow face	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000275	HP:0000275	Narrow face	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0000275	HP:0000275	Narrow face	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional		1200
HP:0000275	HP:0000275	Narrow face	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0000275	HP:0000275	Narrow face	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0000275	HP:0000275	Narrow face	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0000275	HP:0000275	Narrow face	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0000275	HP:0000275	Narrow face	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		60
HP:0000275	HP:0000275	Narrow face	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000275	HP:0000275	Narrow face	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.		50
HP:0000275	HP:0000275	Narrow face	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent		57
HP:0000275	HP:0000275	Narrow face	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0000275	HP:0000275	Narrow face	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0000275	HP:0000275	Narrow face	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent		93
HP:0000275	HP:0000275	Narrow face	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.		93
HP:0000275	HP:0000275	Narrow face	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040282 - Frequent		19
HP:0000275	HP:0000275	Narrow face	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000275	HP:0000275	Narrow face	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional		6
HP:0000275	HP:0000275	Narrow face	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000275	HP:0000275	Narrow face	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000275	HP:0000275	Narrow face	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040282 - Frequent		32
HP:0000275	HP:0000275	Narrow face	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000275	HP:0000275	Narrow face	0	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		37
HP:0000275	HP:0000275	Narrow face	0	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		43
HP:0000275	HP:0000275	Narrow face	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		54
HP:0000275	HP:0000275	Narrow face	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		54
HP:0000275	HP:0000275	Narrow face	0	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		54
HP:0000275	HP:0000275	Narrow face	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0000275	HP:0000275	Narrow face	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		108
HP:0000275	HP:0000275	Narrow face	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		108
HP:0000275	HP:0000275	Narrow face	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.		108
HP:0000275	HP:0000275	Narrow face	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		2
HP:0000275	HP:0000275	Narrow face	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0000275	HP:0000275	Narrow face	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.		133
HP:0000275	HP:0000275	Narrow face	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0000275	HP:0000275	Narrow face	0	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0000275	HP:0000275	Narrow face	0	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant	.		66
HP:0000275	HP:0000275	Narrow face	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000275	HP:0000275	Narrow face	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent		13
HP:0000275	HP:0000275	Narrow face	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent		33
HP:0000275	HP:0000275	Narrow face	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0000275	HP:0000275	Narrow face	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000275	HP:0000275	Narrow face	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent		310
HP:0000275	HP:0000275	Narrow face	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent		10

Genes (104) :ACTA1 ANTXR2 AP4E1 APC2 ATP7A ATR ATRIP BAZ1B BCL7B BCOR BLM BUD23 CENPE CENPJ CENPT CEP152 CFL2 CHD7 CHRNB1 CLIP2 COL18A1 DNAJC30 DSTYK EIF4H ELN ERCC4 EYA1 FBN1 FBXL4 FKBP6 FMR1 GTF2I GTF2IRD1 GTF2IRD2 HYOU1 KBTBD13 KLHL41 LIG4 LIMK1 LMNA LMOD3 MAP2K2 MED12 METTL27 MICU1 MLXIPL MTM1 MYH3 MYH7 MYPN NALCN NCF1 NEB NFIX NGLY1 NHS NOG NOTCH3 NSD1 NSDHL NSUN2 NUP85 PAX3 PBX1 PCNT PLK4 PPP1R15B PQBP1 RBBP8 RECQL4 RFC2 RLIM RYR1 SATB2 SELENON SEMA3E SETD2 SIN3A SIX1 SLC16A2 SLC37A4 SLC6A8 SLC9A6 SMS STEEP1 STRADA STX1A TBL2 TBX1 TMEM270 TNNI2 TNNT3 TPM2 TPM3 TRAIP TRIP11 TRMT10A TSPAN7 TUBB4A UBE3B UPF3B VPS37D WRN ZDHHC9

Diseases (73) :ORPHA:171439 OMIM:255310 ORPHA:171436 OMIM:228600 OMIM:613744 ORPHA:821 OMIM:304150 ORPHA:808 ORPHA:904 OMIM:300166 ORPHA:2712 ORPHA:125 OMIM:210900 OMIM:618702 ORPHA:138 OMIM:616313 OMIM:267750 OMIM:270750 OMIM:610965 OMIM:113650 OMIM:166780 OMIM:154700 OMIM:615471 ORPHA:908 OMIM:233600 ORPHA:235 ORPHA:79474 OMIM:615280 ORPHA:776 OMIM:309520 OMIM:615673 OMIM:310400 ORPHA:1147 ORPHA:420179 OMIM:614753 OMIM:615273 OMIM:302350 OMIM:186500 ORPHA:2789 OMIM:117550 ORPHA:251383 OMIM:300831 OMIM:611091 ORPHA:1529 OMIM:617641 ORPHA:391408 OMIM:309500 ORPHA:93947 ORPHA:93945 ORPHA:93950 ORPHA:1225 OMIM:300978 ORPHA:98905 ORPHA:251028 OMIM:613406 ORPHA:59 OMIM:619525 OMIM:300352 ORPHA:85278 OMIM:300243 ORPHA:3063 OMIM:301013 ORPHA:500533 ORPHA:1727 OMIM:609284 OMIM:616777 OMIM:184260 OMIM:300210 OMIM:128101 OMIM:244450 ORPHA:2707 OMIM:300676 ORPHA:902

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

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