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 calf (HP:0002981)

Grandparent Node:
Bowing of the long bones (HP:0006487)

Parent Node:
Abnormality of the knee (HP:0002815)

Parent Node:
Bowing of the legs (HP:0002979)

..Starting node
..Genu valgum (HP:0002857)

Term ID:

2857

Name:

Genu valgum

Synonym:

Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees

Definition:

The legs angle inward, such that the knees are close together and the ankles far apart.

Comments:

Reference:

HP:0002857

Genes and Diseases:

Child Nodes:

........

Wind-swept deformity of the knees (HP:0100531)

Sister Nodes:

Femoral bowing (HP:0002980)

Fibular bowing (HP:0010502)

Genu varum (HP:0002970)

Tibial bowing (HP:0002982)

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:0002857	HP:0002857	Genu valgum	0	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type	.	34
HP:0002857	HP:0002857	Genu valgum	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	96
HP:0002857	HP:0002857	Genu valgum	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0002857	HP:0002857	Genu valgum	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0002857	HP:0002857	Genu valgum	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0002857	HP:0002857	Genu valgum	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0002857	HP:0002857	Genu valgum	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0002857	HP:0002857	Genu valgum	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0002857	HP:0002857	Genu valgum	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	5
HP:0002857	HP:0002857	Genu valgum	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002857	HP:0002857	Genu valgum	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002857	HP:0002857	Genu valgum	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional	101
HP:0002857	HP:0002857	Genu valgum	0	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type	.
HP:0002857	HP:0002857	Genu valgum	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	276
HP:0002857	HP:0002857	Genu valgum	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0002857	HP:0002857	Genu valgum	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002857	HP:0002857	Genu valgum	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0002857	HP:0002857	Genu valgum	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent	242
HP:0002857	HP:0002857	Genu valgum	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0002857	HP:0002857	Genu valgum	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0002857	HP:0002857	Genu valgum	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	35
HP:0002857	HP:0002857	Genu valgum	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent	165
HP:0002857	HP:0002857	Genu valgum	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	165
HP:0002857	HP:0002857	Genu valgum	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0002857	HP:0002857	Genu valgum	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040282 - Frequent	102
HP:0002857	HP:0002857	Genu valgum	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002857	HP:0002857	Genu valgum	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0002857	HP:0002857	Genu valgum	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0002857	HP:0002857	Genu valgum	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent	215
HP:0002857	HP:0002857	Genu valgum	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent	215
HP:0002857	HP:0002857	Genu valgum	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0002857	HP:0002857	Genu valgum	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040282 - Frequent	284
HP:0002857	HP:0002857	Genu valgum	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.	284
HP:0002857	HP:0002857	Genu valgum	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent	284
HP:0002857	HP:0002857	Genu valgum	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0002857	HP:0002857	Genu valgum	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040282 - Frequent	284
HP:0002857	HP:0002857	Genu valgum	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent	284
HP:0002857	HP:0002857	Genu valgum	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040282 - Frequent	284
HP:0002857	HP:0002857	Genu valgum	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent	110
HP:0002857	HP:0002857	Genu valgum	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0002857	HP:0002857	Genu valgum	0	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0002857	HP:0002857	Genu valgum	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent	110
HP:0002857	HP:0002857	Genu valgum	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0002857	HP:0002857	Genu valgum	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent	137
HP:0002857	HP:0002857	Genu valgum	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	137
HP:0002857	HP:0002857	Genu valgum	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0002857	HP:0002857	Genu valgum	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040284 - Very rare	89
HP:0002857	HP:0002857	Genu valgum	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0002857	HP:0002857	Genu valgum	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0002857	HP:0002857	Genu valgum	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0002857	HP:0002857	Genu valgum	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0002857	HP:0002857	Genu valgum	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0002857	HP:0002857	Genu valgum	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent	60
HP:0002857	HP:0002857	Genu valgum	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002857	HP:0002857	Genu valgum	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0002857	HP:0002857	Genu valgum	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0002857	HP:0002857	Genu valgum	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0002857	HP:0002857	Genu valgum	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	7
HP:0002857	HP:0002857	Genu valgum	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0002857	HP:0002857	Genu valgum	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002857	HP:0002857	Genu valgum	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0002857	HP:0002857	Genu valgum	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.	151
HP:0002857	HP:0002857	Genu valgum	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	209
HP:0002857	HP:0002857	Genu valgum	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0002857	HP:0002857	Genu valgum	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	137
HP:0002857	HP:0002857	Genu valgum	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0002857	HP:0002857	Genu valgum	0	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	.	96
HP:0002857	HP:0002857	Genu valgum	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	96
HP:0002857	HP:0002857	Genu valgum	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	96
HP:0002857	HP:0002857	Genu valgum	0	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II	.	102
HP:0002857	HP:0002857	Genu valgum	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	102
HP:0002857	HP:0002857	Genu valgum	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	1361
HP:0002857	HP:0002857	Genu valgum	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002857	HP:0002857	Genu valgum	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0002857	HP:0002857	Genu valgum	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0002857	HP:0002857	Genu valgum	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent	9
HP:0002857	HP:0002857	Genu valgum	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0002857	HP:0002857	Genu valgum	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040283 - Occasional	121
HP:0002857	HP:0002857	Genu valgum	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0002857	HP:0002857	Genu valgum	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	1
HP:0002857	HP:0002857	Genu valgum	0	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8		1
HP:0002857	HP:0002857	Genu valgum	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.	57
HP:0002857	HP:0002857	Genu valgum	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002857	HP:0002857	Genu valgum	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002857	HP:0002857	Genu valgum	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002857	HP:0002857	Genu valgum	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0002857	HP:0002857	Genu valgum	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0002857	HP:0002857	Genu valgum	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040282 - Frequent	580
HP:0002857	HP:0002857	Genu valgum	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional	580
HP:0002857	HP:0002857	Genu valgum	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0002857	HP:0002857	Genu valgum	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0002857	HP:0002857	Genu valgum	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0002857	HP:0002857	Genu valgum	0	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia	HP:0040283 - Occasional	8
HP:0002857	HP:0002857	Genu valgum	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent	345
HP:0002857	HP:0002857	Genu valgum	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent	25
HP:0002857	HP:0002857	Genu valgum	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0002857	HP:0002857	Genu valgum	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.	115
HP:0002857	HP:0002857	Genu valgum	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0002857	HP:0002857	Genu valgum	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional	48
HP:0002857	HP:0002857	Genu valgum	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0002857	HP:0002857	Genu valgum	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002857	HP:0002857	Genu valgum	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002857	HP:0002857	Genu valgum	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0002857	HP:0002857	Genu valgum	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0002857	HP:0002857	Genu valgum	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent	14
HP:0002857	HP:0002857	Genu valgum	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.	167
HP:0002857	HP:0002857	Genu valgum	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040281 - Very frequent	167
HP:0002857	HP:0002857	Genu valgum	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	13
HP:0002857	HP:0002857	Genu valgum	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	196
HP:0002857	HP:0002857	Genu valgum	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0002857	HP:0002857	Genu valgum	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent	144
HP:0002857	HP:0002857	Genu valgum	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002857	HP:0002857	Genu valgum	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	11
HP:0002857	HP:0002857	Genu valgum	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0002857	HP:0002857	Genu valgum	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent	4
HP:0002857	HP:0002857	Genu valgum	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0002857	HP:0002857	Genu valgum	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0002857	HP:0002857	Genu valgum	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	134
HP:0002857	HP:0002857	Genu valgum	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	178
HP:0002857	HP:0002857	Genu valgum	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0002857	HP:0002857	Genu valgum	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0002857	HP:0002857	Genu valgum	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040282 - Frequent	32
HP:0002857	HP:0002857	Genu valgum	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0002857	HP:0002857	Genu valgum	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040282 - Frequent	13
HP:0002857	HP:0002857	Genu valgum	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002857	HP:0002857	Genu valgum	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0002857	HP:0002857	Genu valgum	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002857	HP:0002857	Genu valgum	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002857	HP:0002857	Genu valgum	0	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type	.	52
HP:0002857	HP:0002857	Genu valgum	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional	134
HP:0002857	HP:0002857	Genu valgum	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002857	HP:0002857	Genu valgum	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0002857	HP:0002857	Genu valgum	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0002857	HP:0002857	Genu valgum	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	745
HP:0002857	HP:0002857	Genu valgum	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002857	HP:0002857	Genu valgum	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional	1952
HP:0002857	HP:0002857	Genu valgum	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.	1952
HP:0002857	HP:0002857	Genu valgum	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.	10
HP:0002857	HP:0002857	Genu valgum	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0002857	HP:0002857	Genu valgum	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0002857	HP:0002857	Genu valgum	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1	.	544
HP:0002857	HP:0002857	Genu valgum	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0002857	HP:0002857	Genu valgum	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0002857	HP:0002857	Genu valgum	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0002857	HP:0002857	Genu valgum	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002857	HP:0002857	Genu valgum	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent	66
HP:0002857	HP:0002857	Genu valgum	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant		217
HP:0002857	HP:0002857	Genu valgum	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent	217
HP:0002857	HP:0002857	Genu valgum	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional	79
HP:0002857	HP:0002857	Genu valgum	0	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1		2
HP:0002857	HP:0002857	Genu valgum	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0002857	HP:0002857	Genu valgum	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0002857	HP:0002857	Genu valgum	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0002857	HP:0002857	Genu valgum	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0002857	HP:0002857	Genu valgum	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1
HP:0002857	HP:0002857	Genu valgum	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002857	HP:0002857	Genu valgum	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002857	HP:0002857	Genu valgum	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040282 - Frequent	31
HP:0002857	HP:0002857	Genu valgum	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0002857	HP:0002857	Genu valgum	0	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2	.	53
HP:0002857	HP:0002857	Genu valgum	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002857	HP:0002857	Genu valgum	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7		167
HP:0002857	HP:0002857	Genu valgum	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0002857	HP:0002857	Genu valgum	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional	90
HP:0002857	HP:0002857	Genu valgum	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0002857	HP:0002857	Genu valgum	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0002857	HP:0002857	Genu valgum	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease	.	3
HP:0002857	HP:0002857	Genu valgum	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040282 - Frequent	66
HP:0002857	HP:0002857	Genu valgum	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent	66
HP:0002857	HP:0002857	Genu valgum	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0002857	HP:0002857	Genu valgum	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	150
HP:0002857	HP:0002857	Genu valgum	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0002857	HP:0002857	Genu valgum	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166
HP:0002857	HP:0002857	Genu valgum	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0002857	HP:0002857	Genu valgum	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent	166
HP:0002857	HP:0002857	Genu valgum	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002857	HP:0002857	Genu valgum	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002857	HP:0002857	Genu valgum	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional	66
HP:0002857	HP:0002857	Genu valgum	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002857	HP:0002857	Genu valgum	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002857	HP:0002857	Genu valgum	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002857	HP:0002857	Genu valgum	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002857	HP:0002857	Genu valgum	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0002857	HP:0002857	Genu valgum	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0002857	HP:0002857	Genu valgum	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002857	HP:0002857	Genu valgum	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.	44
HP:0002857	HP:0002857	Genu valgum	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040282 - Frequent
HP:0002857	HP:0002857	Genu valgum	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0002857	HP:0002857	Genu valgum	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	54
HP:0002857	HP:0002857	Genu valgum	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	171
HP:0002857	HP:0002857	Genu valgum	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0002857	HP:0002857	Genu valgum	0	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism	.	214
HP:0002857	HP:0002857	Genu valgum	0	TRPV4 CL E G H	59341	18083	OMIM:184095	Spondyloepiphyseal dysplasia, Maroteaux type	.	214
HP:0002857	HP:0002857	Genu valgum	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0002857	HP:0002857	Genu valgum	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002857	HP:0002857	Genu valgum	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040283 - Occasional	104
HP:0002857	HP:0002857	Genu valgum	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent	546
HP:0002857	HP:0002857	Genu valgum	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0002857	HP:0002857	Genu valgum	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002857	HP:0002857	Genu valgum	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0002857	HP:0002857	Genu valgum	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0002857	HP:0002857	Genu valgum	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0002857	HP:0002857	Genu valgum	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002857	HP:0002857	Genu valgum	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0002857	HP:0100531	Wind-swept deformity of the knees	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent	89

Genes (157) :ACAN ACTA1 ARSB ARSK ATP7A ATRX B3GALT6 B3GAT3 BAZ1B BCL7B BCOR BPNT2 BRAF BRF1 BUD23 CAMK2A CBS CCN6 CENPT CFL2 CHST3 CLCN7 CLIP2 COG5 COL10A1 COL11A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CSGALNACT1 CTC1 CTNS CYP19A1 DNAJC30 DYM DYNC2LI1 EIF2AK3 EIF4H ELN ENPP1 EVC EVC2 EXT1 EXT2 FBN1 FKBP6 FLNA FN1 GALNS GAN GLB1 GLI1 GNPTG GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3B HBB HEATR3 HERC2 HS2ST1 HS6ST1 HSPG2 IARS2 IDUA IFIH1 IFT172 IFT57 IPO8 IPW KAT6A KIF22 KIF7 KLHL41 KRAS LBR LIFR LIMK1 LMOD3 LONP1 LOXL3 MAGEL2 MAN2B1 MAP2K1 MAP2K2 MAPK8IP3 MATN3 MCTP2 MEGF8 METTL27 MKRN3 MKRN3-AS1 MLXIPL MMP13 MPZ MTX2 NCF1 NDUFAF6 NEB NEPRO NF1 NKX3-2 NOTCH2 NPAP1 NSD1 OCRL ORC1 P4HTM PEPD PHEX PMP22 PRKACA PRKACB PRKG2 PUS3 PWAR1 PWRN1 RAB23 RAB33B RFC2 RPGRIP1L RSPRY1 RUNX2 SERPINH1 SF3B2 SFRP4 SHOX SKI SLC10A7 SLC26A2 SNORD115-1 SNORD116-1 SPART SPTBN1 STX1A TBL2 TFE3 TGFB1 TMEM270 TNFSF11 TONSL TPM2 TRPS1 TRPV4 TUBB3 UGP2 VDR VPS13B VPS37D ZBTB20 ZEB2 ZNF699 ZPR1

Diseases (149) :OMIM:608361 ORPHA:171436 OMIM:253200 OMIM:619698 OMIM:304150 ORPHA:198 OMIM:309580 OMIM:271640 OMIM:245600 ORPHA:904 ORPHA:2712 OMIM:614078 ORPHA:1340 OMIM:616202 OMIM:617798 ORPHA:394 ORPHA:1159 OMIM:618702 ORPHA:263463 OMIM:143095 ORPHA:53 ORPHA:263487 OMIM:156500 ORPHA:250984 ORPHA:560 ORPHA:230851 ORPHA:85198 OMIM:132450 ORPHA:166011 OMIM:184250 ORPHA:94068 ORPHA:93315 ORPHA:93316 ORPHA:166002 OMIM:614134 OMIM:132400 ORPHA:93308 ORPHA:750 OMIM:177170 OMIM:618870 OMIM:612199 OMIM:219800 ORPHA:91 ORPHA:239 OMIM:223800 OMIM:607326 ORPHA:289 OMIM:226980 OMIM:613312 OMIM:225500 OMIM:133700 ORPHA:321 ORPHA:502 OMIM:133701 ORPHA:2462 OMIM:305620 OMIM:309350 OMIM:253000 ORPHA:643 OMIM:253010 OMIM:618123 OMIM:252605 OMIM:253220 OMIM:619721 ORPHA:231214 ORPHA:231226 OMIM:620072 OMIM:176270 OMIM:619194 OMIM:614880 ORPHA:800 ORPHA:436174 OMIM:616007 OMIM:607016 OMIM:182250 OMIM:615630 OMIM:617927 OMIM:619472 OMIM:616268 OMIM:603546 ORPHA:93360 OMIM:607131 ORPHA:166024 OMIM:618019 ORPHA:3206 OMIM:600373 ORPHA:309282 OMIM:618443 OMIM:607078 ORPHA:93311 ORPHA:1596 ORPHA:65759 OMIM:250400 ORPHA:3115 OMIM:619127 OMIM:618913 OMIM:618853 ORPHA:363700 OMIM:162200 OMIM:613330 OMIM:102500 OMIM:117550 OMIM:309000 ORPHA:534 OMIM:224690 OMIM:618493 ORPHA:742 OMIM:307800 ORPHA:89936 OMIM:619142 OMIM:619143 OMIM:619636 ORPHA:488627 OMIM:201000 OMIM:615222 OMIM:611560 ORPHA:457395 ORPHA:1452 OMIM:613848 OMIM:164210 OMIM:265900 ORPHA:240 ORPHA:314795 OMIM:182212 OMIM:618363 ORPHA:56304 OMIM:222600 ORPHA:93307 ORPHA:101000 OMIM:619475 OMIM:301066 ORPHA:1328 OMIM:131300 OMIM:259710 ORPHA:93357 OMIM:271510 OMIM:156530 OMIM:168400 OMIM:184095 ORPHA:300570 OMIM:618744 ORPHA:93160 ORPHA:193 OMIM:216550 OMIM:259050 ORPHA:261552 ORPHA:261537 OMIM:619488 OMIM:619321

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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