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 diaphysis morphology (HP:0000940)

Grandparent Node:
Abnormality of limb bone morphology (HP:0002813)

Parent Node:
obsolete Anomaly of the limb diaphyses morphology (HP:0006504)

..Starting node
..Bowing of the long bones (HP:0006487)

Term ID:

6487

Name:

Bowing of the long bones

Synonym:

Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones

Definition:

A bending or abnormal curvature of a long bone.

Comments:

Reference:

HP:0006487

Genes and Diseases:

Child Nodes:

........

Bowing of the legs (HP:0002979)

................... HP:0002857 Genu valgum
................... HP:0002970 Genu varum
................... HP:0002980 Femoral bowing
................... HP:0002982 Tibial bowing
................... HP:0010502 Fibular bowing

........

Progressive bowing of long bones (HP:0006383)

................... HP:0005891 Progressive forearm bowing
................... HP:0006409 Progressive leg bowing

........

Anterior bowing of long bones (HP:0006473)

........

Bowing of the arm (HP:0006488)

................... HP:0003865 Bowed humerus
................... HP:0003956 Bowed forearm bones

Sister Nodes:

Anomaly of lower limb diaphyses (HP:0012699)

Anomaly of the upper limb diaphyses (HP:0009808)

Broad long bone diaphyses (HP:0006371)

Increased density of long bone diaphyses (HP:0006440)

Thin long bone diaphyses (HP:0006470)

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:0006487	HP:0006487	Bowing of the long bones	0	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type			34
HP:0006487	HP:0006487	Bowing of the long bones	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0006487	HP:0006487	Bowing of the long bones	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0006487	HP:0006487	Bowing of the long bones	0	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood			126
HP:0006487	HP:0006487	Bowing of the long bones	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0006487	HP:0006487	Bowing of the long bones	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0006487	HP:0006487	Bowing of the long bones	0	ANO5 CL E G H	203859	27337	ORPHA:53697	Gnathodiaphyseal dysplasia	HP:0040281 - Very frequent		304
HP:0006487	HP:0006487	Bowing of the long bones	0	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia	.		304
HP:0006487	HP:0006487	Bowing of the long bones	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0006487	HP:0006487	Bowing of the long bones	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0006487	HP:0006487	Bowing of the long bones	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0006487	HP:0006487	Bowing of the long bones	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040283 - Occasional		192
HP:0006487	HP:0006487	Bowing of the long bones	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0006487	HP:0006487	Bowing of the long bones	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0006487	HP:0006487	Bowing of the long bones	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0006487	HP:0006487	Bowing of the long bones	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43			8
HP:0006487	HP:0006487	Bowing of the long bones	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0006487	HP:0006487	Bowing of the long bones	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		38
HP:0006487	HP:0006487	Bowing of the long bones	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent		38
HP:0006487	HP:0006487	Bowing of the long bones	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0006487	HP:0006487	Bowing of the long bones	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0006487	HP:0006487	Bowing of the long bones	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.		29
HP:0006487	HP:0006487	Bowing of the long bones	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		28
HP:0006487	HP:0006487	Bowing of the long bones	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		34
HP:0006487	HP:0006487	Bowing of the long bones	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0006487	HP:0006487	Bowing of the long bones	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		5
HP:0006487	HP:0006487	Bowing of the long bones	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome			4
HP:0006487	HP:0006487	Bowing of the long bones	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent		90
HP:0006487	HP:0006487	Bowing of the long bones	0	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type
HP:0006487	HP:0006487	Bowing of the long bones	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0006487	HP:0006487	Bowing of the long bones	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0006487	HP:0006487	Bowing of the long bones	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0006487	HP:0006487	Bowing of the long bones	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0006487	HP:0006487	Bowing of the long bones	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0006487	HP:0006487	Bowing of the long bones	0	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0006487	HP:0006487	Bowing of the long bones	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0006487	HP:0006487	Bowing of the long bones	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		247
HP:0006487	HP:0006487	Bowing of the long bones	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0006487	HP:0006487	Bowing of the long bones	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0006487	HP:0006487	Bowing of the long bones	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0006487	HP:0006487	Bowing of the long bones	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0006487	HP:0006487	Bowing of the long bones	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0006487	HP:0006487	Bowing of the long bones	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		342
HP:0006487	HP:0006487	Bowing of the long bones	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4	HP:0040283 - Occasional		342
HP:0006487	HP:0006487	Bowing of the long bones	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0006487	HP:0006487	Bowing of the long bones	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0006487	HP:0006487	Bowing of the long bones	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0006487	HP:0006487	Bowing of the long bones	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0006487	HP:0006487	Bowing of the long bones	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0006487	HP:0006487	Bowing of the long bones	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0006487	HP:0006487	Bowing of the long bones	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0006487	HP:0006487	Bowing of the long bones	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0006487	HP:0006487	Bowing of the long bones	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0006487	HP:0006487	Bowing of the long bones	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0006487	HP:0006487	Bowing of the long bones	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0006487	HP:0006487	Bowing of the long bones	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type			79
HP:0006487	HP:0006487	Bowing of the long bones	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0006487	HP:0006487	Bowing of the long bones	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0006487	HP:0006487	Bowing of the long bones	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0006487	HP:0006487	Bowing of the long bones	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0006487	HP:0006487	Bowing of the long bones	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0006487	HP:0006487	Bowing of the long bones	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0006487	HP:0006487	Bowing of the long bones	0	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease			373
HP:0006487	HP:0006487	Bowing of the long bones	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0006487	HP:0006487	Bowing of the long bones	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0006487	HP:0006487	Bowing of the long bones	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0006487	HP:0006487	Bowing of the long bones	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0006487	HP:0006487	Bowing of the long bones	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0006487	HP:0006487	Bowing of the long bones	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0006487	HP:0006487	Bowing of the long bones	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0006487	HP:0006487	Bowing of the long bones	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0006487	HP:0006487	Bowing of the long bones	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis			284
HP:0006487	HP:0006487	Bowing of the long bones	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness			284
HP:0006487	HP:0006487	Bowing of the long bones	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0006487	HP:0006487	Bowing of the long bones	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0006487	HP:0006487	Bowing of the long bones	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040281 - Very frequent		284
HP:0006487	HP:0006487	Bowing of the long bones	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0006487	HP:0006487	Bowing of the long bones	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0006487	HP:0006487	Bowing of the long bones	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0006487	HP:0006487	Bowing of the long bones	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0006487	HP:0006487	Bowing of the long bones	0	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type			284
HP:0006487	HP:0006487	Bowing of the long bones	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0006487	HP:0006487	Bowing of the long bones	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0006487	HP:0006487	Bowing of the long bones	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0006487	HP:0006487	Bowing of the long bones	0	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0006487	HP:0006487	Bowing of the long bones	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0006487	HP:0006487	Bowing of the long bones	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0006487	HP:0006487	Bowing of the long bones	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0006487	HP:0006487	Bowing of the long bones	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0006487	HP:0006487	Bowing of the long bones	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			137
HP:0006487	HP:0006487	Bowing of the long bones	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0006487	HP:0006487	Bowing of the long bones	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0006487	HP:0006487	Bowing of the long bones	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0006487	HP:0006487	Bowing of the long bones	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0006487	HP:0006487	Bowing of the long bones	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0006487	HP:0006487	Bowing of the long bones	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0006487	HP:0006487	Bowing of the long bones	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0006487	HP:0006487	Bowing of the long bones	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII			124
HP:0006487	HP:0006487	Bowing of the long bones	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0006487	HP:0006487	Bowing of the long bones	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		57
HP:0006487	HP:0006487	Bowing of the long bones	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0006487	HP:0006487	Bowing of the long bones	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0006487	HP:0006487	Bowing of the long bones	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0006487	HP:0006487	Bowing of the long bones	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0006487	HP:0006487	Bowing of the long bones	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0006487	HP:0006487	Bowing of the long bones	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0006487	HP:0006487	Bowing of the long bones	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0006487	HP:0006487	Bowing of the long bones	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0006487	HP:0006487	Bowing of the long bones	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0006487	HP:0006487	Bowing of the long bones	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0006487	HP:0006487	Bowing of the long bones	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0006487	HP:0006487	Bowing of the long bones	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0006487	HP:0006487	Bowing of the long bones	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0006487	HP:0006487	Bowing of the long bones	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0006487	HP:0006487	Bowing of the long bones	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0006487	HP:0006487	Bowing of the long bones	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1			65
HP:0006487	HP:0006487	Bowing of the long bones	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3			304
HP:0006487	HP:0006487	Bowing of the long bones	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0006487	HP:0006487	Bowing of the long bones	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0006487	HP:0006487	Bowing of the long bones	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0006487	HP:0006487	Bowing of the long bones	0	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3			2
HP:0006487	HP:0006487	Bowing of the long bones	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0006487	HP:0006487	Bowing of the long bones	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0006487	HP:0006487	Bowing of the long bones	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0006487	HP:0006487	Bowing of the long bones	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2			151
HP:0006487	HP:0006487	Bowing of the long bones	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent		92
HP:0006487	HP:0006487	Bowing of the long bones	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0006487	HP:0006487	Bowing of the long bones	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0006487	HP:0006487	Bowing of the long bones	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0006487	HP:0006487	Bowing of the long bones	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0006487	HP:0006487	Bowing of the long bones	0	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I			96
HP:0006487	HP:0006487	Bowing of the long bones	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		96
HP:0006487	HP:0006487	Bowing of the long bones	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0006487	HP:0006487	Bowing of the long bones	0	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II			102
HP:0006487	HP:0006487	Bowing of the long bones	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		102
HP:0006487	HP:0006487	Bowing of the long bones	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional		35
HP:0006487	HP:0006487	Bowing of the long bones	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		1361
HP:0006487	HP:0006487	Bowing of the long bones	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0006487	HP:0006487	Bowing of the long bones	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets			51
HP:0006487	HP:0006487	Bowing of the long bones	0	FGF23 CL E G H	8074	3680	OMIM:617993	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2			51
HP:0006487	HP:0006487	Bowing of the long bones	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.		172
HP:0006487	HP:0006487	Bowing of the long bones	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0006487	HP:0006487	Bowing of the long bones	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0006487	HP:0006487	Bowing of the long bones	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0006487	HP:0006487	Bowing of the long bones	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0006487	HP:0006487	Bowing of the long bones	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040283 - Occasional		145
HP:0006487	HP:0006487	Bowing of the long bones	0	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA			145
HP:0006487	HP:0006487	Bowing of the long bones	0	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome			145
HP:0006487	HP:0006487	Bowing of the long bones	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent		145
HP:0006487	HP:0006487	Bowing of the long bones	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0006487	HP:0006487	Bowing of the long bones	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0006487	HP:0006487	Bowing of the long bones	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0006487	HP:0006487	Bowing of the long bones	0	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome	HP:0040283 - Occasional		61
HP:0006487	HP:0006487	Bowing of the long bones	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0006487	HP:0006487	Bowing of the long bones	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0006487	HP:0006487	Bowing of the long bones	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0006487	HP:0006487	Bowing of the long bones	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040281 - Very frequent		493
HP:0006487	HP:0006487	Bowing of the long bones	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040282 - Frequent		493
HP:0006487	HP:0006487	Bowing of the long bones	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent		493
HP:0006487	HP:0006487	Bowing of the long bones	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0006487	HP:0006487	Bowing of the long bones	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0006487	HP:0006487	Bowing of the long bones	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0006487	HP:0006487	Bowing of the long bones	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III			233
HP:0006487	HP:0006487	Bowing of the long bones	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0006487	HP:0006487	Bowing of the long bones	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0006487	HP:0006487	Bowing of the long bones	0	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type			9
HP:0006487	HP:0006487	Bowing of the long bones	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0006487	HP:0006487	Bowing of the long bones	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0006487	HP:0006487	Bowing of the long bones	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent		52
HP:0006487	HP:0006487	Bowing of the long bones	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0006487	HP:0006487	Bowing of the long bones	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0006487	HP:0006487	Bowing of the long bones	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0006487	HP:0006487	Bowing of the long bones	0	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8			1
HP:0006487	HP:0006487	Bowing of the long bones	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0006487	HP:0006487	Bowing of the long bones	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma			57
HP:0006487	HP:0006487	Bowing of the long bones	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0006487	HP:0006487	Bowing of the long bones	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0006487	HP:0006487	Bowing of the long bones	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0006487	HP:0006487	Bowing of the long bones	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0006487	HP:0006487	Bowing of the long bones	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0006487	HP:0006487	Bowing of the long bones	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0006487	HP:0006487	Bowing of the long bones	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040282 - Frequent		580
HP:0006487	HP:0006487	Bowing of the long bones	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0006487	HP:0006487	Bowing of the long bones	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0006487	HP:0006487	Bowing of the long bones	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0006487	HP:0006487	Bowing of the long bones	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia			3
HP:0006487	HP:0006487	Bowing of the long bones	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0006487	HP:0006487	Bowing of the long bones	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0006487	HP:0006487	Bowing of the long bones	0	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia			8
HP:0006487	HP:0006487	Bowing of the long bones	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0006487	HP:0006487	Bowing of the long bones	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.		345
HP:0006487	HP:0006487	Bowing of the long bones	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent		345
HP:0006487	HP:0006487	Bowing of the long bones	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0006487	HP:0006487	Bowing of the long bones	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0006487	HP:0006487	Bowing of the long bones	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0006487	HP:0006487	Bowing of the long bones	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0006487	HP:0006487	Bowing of the long bones	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome			115
HP:0006487	HP:0006487	Bowing of the long bones	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0006487	HP:0006487	Bowing of the long bones	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0006487	HP:0006487	Bowing of the long bones	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0006487	HP:0006487	Bowing of the long bones	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0006487	HP:0006487	Bowing of the long bones	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia			44
HP:0006487	HP:0006487	Bowing of the long bones	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0006487	HP:0006487	Bowing of the long bones	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0006487	HP:0006487	Bowing of the long bones	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0006487	HP:0006487	Bowing of the long bones	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0006487	HP:0006487	Bowing of the long bones	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0006487	HP:0006487	Bowing of the long bones	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2			14
HP:0006487	HP:0006487	Bowing of the long bones	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0006487	HP:0006487	Bowing of the long bones	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0006487	HP:0006487	Bowing of the long bones	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type			167
HP:0006487	HP:0006487	Bowing of the long bones	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0006487	HP:0006487	Bowing of the long bones	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0006487	HP:0006487	Bowing of the long bones	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0006487	HP:0006487	Bowing of the long bones	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0006487	HP:0006487	Bowing of the long bones	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent		144
HP:0006487	HP:0006487	Bowing of the long bones	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	HP:0003577 - Congenital onset	144
HP:0006487	HP:0006487	Bowing of the long bones	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0006487	HP:0006487	Bowing of the long bones	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0006487	HP:0006487	Bowing of the long bones	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0006487	HP:0006487	Bowing of the long bones	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0006487	HP:0006487	Bowing of the long bones	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0006487	HP:0006487	Bowing of the long bones	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0006487	HP:0006487	Bowing of the long bones	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0006487	HP:0006487	Bowing of the long bones	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0006487	HP:0006487	Bowing of the long bones	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0006487	HP:0006487	Bowing of the long bones	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0006487	HP:0006487	Bowing of the long bones	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0006487	HP:0006487	Bowing of the long bones	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0006487	HP:0006487	Bowing of the long bones	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0006487	HP:0006487	Bowing of the long bones	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0006487	HP:0006487	Bowing of the long bones	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related			32
HP:0006487	HP:0006487	Bowing of the long bones	0	MATN3 CL E G H	4148	6909	ORPHA:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type			32
HP:0006487	HP:0006487	Bowing of the long bones	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0006487	HP:0006487	Bowing of the long bones	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0006487	HP:0006487	Bowing of the long bones	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0006487	HP:0006487	Bowing of the long bones	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0006487	HP:0006487	Bowing of the long bones	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0006487	HP:0006487	Bowing of the long bones	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		127
HP:0006487	HP:0006487	Bowing of the long bones	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0006487	HP:0006487	Bowing of the long bones	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0006487	HP:0006487	Bowing of the long bones	0	MMP13 CL E G H	4322	7159	ORPHA:1040	Metaphyseal anadysplasia	HP:0040281 - Very frequent		52
HP:0006487	HP:0006487	Bowing of the long bones	0	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type	HP:0040281 - Very frequent		52
HP:0006487	HP:0006487	Bowing of the long bones	0	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type			52
HP:0006487	HP:0006487	Bowing of the long bones	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0006487	HP:0006487	Bowing of the long bones	0	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0006487	HP:0006487	Bowing of the long bones	0	MMP9 CL E G H	4318	7176	ORPHA:1040	Metaphyseal anadysplasia	HP:0040281 - Very frequent		31
HP:0006487	HP:0006487	Bowing of the long bones	0	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2			31
HP:0006487	HP:0006487	Bowing of the long bones	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome			134
HP:0006487	HP:0006487	Bowing of the long bones	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0006487	HP:0006487	Bowing of the long bones	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0006487	HP:0006487	Bowing of the long bones	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0006487	HP:0006487	Bowing of the long bones	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0006487	HP:0006487	Bowing of the long bones	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0006487	HP:0006487	Bowing of the long bones	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0006487	HP:0006487	Bowing of the long bones	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0006487	HP:0006487	Bowing of the long bones	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0006487	HP:0006487	Bowing of the long bones	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0006487	HP:0006487	Bowing of the long bones	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0006487	HP:0006487	Bowing of the long bones	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0006487	HP:0006487	Bowing of the long bones	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent		40
HP:0006487	HP:0006487	Bowing of the long bones	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0006487	HP:0006487	Bowing of the long bones	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0006487	HP:0006487	Bowing of the long bones	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0006487	HP:0006487	Bowing of the long bones	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0006487	HP:0006487	Bowing of the long bones	0	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type	HP:0040282 - Frequent		53
HP:0006487	HP:0006487	Bowing of the long bones	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type			53
HP:0006487	HP:0006487	Bowing of the long bones	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0006487	HP:0006487	Bowing of the long bones	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0006487	HP:0006487	Bowing of the long bones	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0006487	HP:0006487	Bowing of the long bones	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0006487	HP:0006487	Bowing of the long bones	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0006487	HP:0006487	Bowing of the long bones	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0006487	HP:0006487	Bowing of the long bones	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent		2
HP:0006487	HP:0006487	Bowing of the long bones	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0006487	HP:0006487	Bowing of the long bones	0	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes			20
HP:0006487	HP:0006487	Bowing of the long bones	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0006487	HP:0006487	Bowing of the long bones	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0006487	HP:0006487	Bowing of the long bones	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040281 - Very frequent		11
HP:0006487	HP:0006487	Bowing of the long bones	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0006487	HP:0006487	Bowing of the long bones	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0006487	HP:0006487	Bowing of the long bones	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0006487	HP:0006487	Bowing of the long bones	0	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome	HP:0040283 - Occasional		45
HP:0006487	HP:0006487	Bowing of the long bones	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0006487	HP:0006487	Bowing of the long bones	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome			79
HP:0006487	HP:0006487	Bowing of the long bones	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type			8
HP:0006487	HP:0006487	Bowing of the long bones	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0006487	HP:0006487	Bowing of the long bones	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0006487	HP:0006487	Bowing of the long bones	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0006487	HP:0006487	Bowing of the long bones	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0006487	HP:0006487	Bowing of the long bones	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0006487	HP:0006487	Bowing of the long bones	0	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1			2
HP:0006487	HP:0006487	Bowing of the long bones	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0006487	HP:0006487	Bowing of the long bones	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0006487	HP:0006487	Bowing of the long bones	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0006487	HP:0006487	Bowing of the long bones	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0006487	HP:0006487	Bowing of the long bones	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0006487	HP:0006487	Bowing of the long bones	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040282 - Frequent		58
HP:0006487	HP:0006487	Bowing of the long bones	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.		58
HP:0006487	HP:0006487	Bowing of the long bones	0	PTPN11 CL E G H	5781	9644	OMIM:156250	METACHONDROMATOSIS	.		291
HP:0006487	HP:0006487	Bowing of the long bones	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0006487	HP:0006487	Bowing of the long bones	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.		53
HP:0006487	HP:0006487	Bowing of the long bones	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0006487	HP:0006487	Bowing of the long bones	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0006487	HP:0006487	Bowing of the long bones	0	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2			53
HP:0006487	HP:0006487	Bowing of the long bones	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0006487	HP:0006487	Bowing of the long bones	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0006487	HP:0006487	Bowing of the long bones	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0006487	HP:0006487	Bowing of the long bones	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040282 - Frequent		445
HP:0006487	HP:0006487	Bowing of the long bones	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0006487	HP:0006487	Bowing of the long bones	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0006487	HP:0006487	Bowing of the long bones	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0006487	HP:0006487	Bowing of the long bones	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0006487	HP:0006487	Bowing of the long bones	0	RMRP CL E G H	6023	10031	OMIM:250460	Metaphyseal dysplasia without hypotrichosis			37
HP:0006487	HP:0006487	Bowing of the long bones	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0006487	HP:0006487	Bowing of the long bones	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0006487	HP:0006487	Bowing of the long bones	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		109
HP:0006487	HP:0006487	Bowing of the long bones	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0006487	HP:0006487	Bowing of the long bones	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		167
HP:0006487	HP:0006487	Bowing of the long bones	0	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5	.		167
HP:0006487	HP:0006487	Bowing of the long bones	0	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0006487	HP:0006487	Bowing of the long bones	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0006487	HP:0006487	Bowing of the long bones	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0006487	HP:0006487	Bowing of the long bones	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0006487	HP:0006487	Bowing of the long bones	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0006487	HP:0006487	Bowing of the long bones	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0006487	HP:0006487	Bowing of the long bones	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0006487	HP:0006487	Bowing of the long bones	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0006487	HP:0006487	Bowing of the long bones	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0006487	HP:0006487	Bowing of the long bones	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent		5
HP:0006487	HP:0006487	Bowing of the long bones	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.		52
HP:0006487	HP:0006487	Bowing of the long bones	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0006487	HP:0006487	Bowing of the long bones	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0006487	HP:0006487	Bowing of the long bones	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0006487	HP:0006487	Bowing of the long bones	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease			3
HP:0006487	HP:0006487	Bowing of the long bones	0	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0006487	HP:0006487	Bowing of the long bones	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0006487	HP:0006487	Bowing of the long bones	0	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent		66
HP:0006487	HP:0006487	Bowing of the long bones	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia			66
HP:0006487	HP:0006487	Bowing of the long bones	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0006487	HP:0006487	Bowing of the long bones	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0006487	HP:0006487	Bowing of the long bones	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature			66
HP:0006487	HP:0006487	Bowing of the long bones	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0006487	HP:0006487	Bowing of the long bones	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		150
HP:0006487	HP:0006487	Bowing of the long bones	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0006487	HP:0006487	Bowing of the long bones	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0006487	HP:0006487	Bowing of the long bones	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040281 - Very frequent		166
HP:0006487	HP:0006487	Bowing of the long bones	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0006487	HP:0006487	Bowing of the long bones	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0006487	HP:0006487	Bowing of the long bones	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040283 - Occasional		71
HP:0006487	HP:0006487	Bowing of the long bones	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			47
HP:0006487	HP:0006487	Bowing of the long bones	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			52
HP:0006487	HP:0006487	Bowing of the long bones	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0006487	HP:0006487	Bowing of the long bones	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0006487	HP:0006487	Bowing of the long bones	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040283 - Occasional		15
HP:0006487	HP:0006487	Bowing of the long bones	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0006487	HP:0006487	Bowing of the long bones	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0006487	HP:0006487	Bowing of the long bones	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0006487	HP:0006487	Bowing of the long bones	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent		109
HP:0006487	HP:0006487	Bowing of the long bones	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0006487	HP:0006487	Bowing of the long bones	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0006487	HP:0006487	Bowing of the long bones	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0006487	HP:0006487	Bowing of the long bones	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia	HP:0040281 - Very frequent		16
HP:0006487	HP:0006487	Bowing of the long bones	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0006487	HP:0006487	Bowing of the long bones	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0006487	HP:0006487	Bowing of the long bones	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		76
HP:0006487	HP:0006487	Bowing of the long bones	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0006487	HP:0006487	Bowing of the long bones	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		31
HP:0006487	HP:0006487	Bowing of the long bones	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0006487	HP:0006487	Bowing of the long bones	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0006487	HP:0006487	Bowing of the long bones	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0006487	HP:0006487	Bowing of the long bones	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0006487	HP:0006487	Bowing of the long bones	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0006487	HP:0006487	Bowing of the long bones	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		4
HP:0006487	HP:0006487	Bowing of the long bones	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0006487	HP:0006487	Bowing of the long bones	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2			45
HP:0006487	HP:0006487	Bowing of the long bones	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		33
HP:0006487	HP:0006487	Bowing of the long bones	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		82
HP:0006487	HP:0006487	Bowing of the long bones	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0006487	HP:0006487	Bowing of the long bones	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		166
HP:0006487	HP:0006487	Bowing of the long bones	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0006487	HP:0006487	Bowing of the long bones	0	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis	.		72
HP:0006487	HP:0006487	Bowing of the long bones	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent		72
HP:0006487	HP:0006487	Bowing of the long bones	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.		72
HP:0006487	HP:0006487	Bowing of the long bones	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent		44
HP:0006487	HP:0006487	Bowing of the long bones	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.		44
HP:0006487	HP:0006487	Bowing of the long bones	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0006487	HP:0006487	Bowing of the long bones	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0006487	HP:0006487	Bowing of the long bones	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0006487	HP:0006487	Bowing of the long bones	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0006487	HP:0006487	Bowing of the long bones	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0006487	HP:0006487	Bowing of the long bones	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0006487	HP:0006487	Bowing of the long bones	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040283 - Occasional		133
HP:0006487	HP:0006487	Bowing of the long bones	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0006487	HP:0006487	Bowing of the long bones	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0006487	HP:0006487	Bowing of the long bones	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0006487	HP:0006487	Bowing of the long bones	0	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism			214
HP:0006487	HP:0006487	Bowing of the long bones	0	TRPV4 CL E G H	59341	18083	OMIM:184095	Spondyloepiphyseal dysplasia, Maroteaux type			214
HP:0006487	HP:0006487	Bowing of the long bones	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0006487	HP:0006487	Bowing of the long bones	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0006487	HP:0006487	Bowing of the long bones	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0006487	HP:0006487	Bowing of the long bones	0	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0006487	HP:0006487	Bowing of the long bones	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		2
HP:0006487	HP:0006487	Bowing of the long bones	0	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0006487	HP:0006487	Bowing of the long bones	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0006487	HP:0006487	Bowing of the long bones	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0006487	HP:0006487	Bowing of the long bones	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0006487	HP:0006487	Bowing of the long bones	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0006487	HP:0006487	Bowing of the long bones	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0006487	HP:0006487	Bowing of the long bones	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0006487	HP:0006487	Bowing of the long bones	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0006487	HP:0006487	Bowing of the long bones	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0006487	HP:0006487	Bowing of the long bones	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0006487	HP:0006487	Bowing of the long bones	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0006487	HP:0006487	Bowing of the long bones	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent		13
HP:0006487	HP:0006487	Bowing of the long bones	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0006487	HP:0006487	Bowing of the long bones	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0006487	HP:0006487	Bowing of the long bones	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0006487	HP:0006487	Bowing of the long bones	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0006487	HP:0006487	Bowing of the long bones	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0006487	HP:0006487	Bowing of the long bones	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0006487	HP:0006487	Bowing of the long bones	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0006487	HP:0002979	Bowing of the legs	1	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type			34
HP:0006487	HP:0002979	Bowing of the legs	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional		16
HP:0006487	HP:0002979	Bowing of the legs	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0006487	HP:0002979	Bowing of the legs	1	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood	.		126
HP:0006487	HP:0002979	Bowing of the legs	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0006487	HP:0002979	Bowing of the legs	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0006487	HP:0002979	Bowing of the legs	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0006487	HP:0002979	Bowing of the legs	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0006487	HP:0002979	Bowing of the legs	1	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0006487	HP:0002979	Bowing of the legs	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0006487	HP:0002979	Bowing of the legs	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0006487	HP:0002979	Bowing of the legs	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0006487	HP:0006488	Bowing of the arm	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43			8
HP:0006487	HP:0006488	Bowing of the arm	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0006487	HP:0002979	Bowing of the legs	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0006487	HP:0006488	Bowing of the arm	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0006487	HP:0002979	Bowing of the legs	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0006487	HP:0002979	Bowing of the legs	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0006487	HP:0002979	Bowing of the legs	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome			4
HP:0006487	HP:0002979	Bowing of the legs	1	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type
HP:0006487	HP:0002979	Bowing of the legs	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0006487	HP:0002979	Bowing of the legs	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0006487	HP:0002979	Bowing of the legs	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0006487	HP:0002979	Bowing of the legs	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0006487	HP:0002979	Bowing of the legs	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0006487	HP:0002979	Bowing of the legs	1	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0006487	HP:0002979	Bowing of the legs	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0006487	HP:0002979	Bowing of the legs	1	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0006487	HP:0002979	Bowing of the legs	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0006487	HP:0002979	Bowing of the legs	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0006487	HP:0002979	Bowing of the legs	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0006487	HP:0002979	Bowing of the legs	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0006487	HP:0002979	Bowing of the legs	1	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0006487	HP:0002979	Bowing of the legs	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0006487	HP:0002979	Bowing of the legs	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0006487	HP:0006488	Bowing of the arm	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0006487	HP:0002979	Bowing of the legs	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0006487	HP:0006488	Bowing of the arm	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0006487	HP:0002979	Bowing of the legs	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0006487	HP:0002979	Bowing of the legs	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0006487	HP:0002979	Bowing of the legs	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0006487	HP:0002979	Bowing of the legs	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0006487	HP:0002979	Bowing of the legs	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0006487	HP:0002979	Bowing of the legs	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type			79
HP:0006487	HP:0002979	Bowing of the legs	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional		79
HP:0006487	HP:0002979	Bowing of the legs	1	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0006487	HP:0002979	Bowing of the legs	1	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0006487	HP:0006488	Bowing of the arm	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0006487	HP:0002979	Bowing of the legs	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0006487	HP:0002979	Bowing of the legs	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0006487	HP:0002979	Bowing of the legs	1	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease	.	HP:0003577 - Congenital onset	373
HP:0006487	HP:0002979	Bowing of the legs	1	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0006487	HP:0002979	Bowing of the legs	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0006487	HP:0002979	Bowing of the legs	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0006487	HP:0002979	Bowing of the legs	1	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0006487	HP:0002979	Bowing of the legs	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0006487	HP:0002979	Bowing of the legs	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0006487	HP:0002979	Bowing of the legs	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0006487	HP:0002979	Bowing of the legs	1	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0006487	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis			284
HP:0006487	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness			284
HP:0006487	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0006487	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0006487	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0006487	HP:0006488	Bowing of the arm	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0006487	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0006487	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0006487	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0006487	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type			284
HP:0006487	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0006487	HP:0002979	Bowing of the legs	1	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0006487	HP:0002979	Bowing of the legs	1	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0006487	HP:0002979	Bowing of the legs	1	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0006487	HP:0002979	Bowing of the legs	1	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0006487	HP:0002979	Bowing of the legs	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0006487	HP:0002979	Bowing of the legs	1	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0006487	HP:0002979	Bowing of the legs	1	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0006487	HP:0002979	Bowing of the legs	1	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			137
HP:0006487	HP:0002979	Bowing of the legs	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0006487	HP:0002979	Bowing of the legs	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0006487	HP:0002979	Bowing of the legs	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0006487	HP:0002979	Bowing of the legs	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0006487	HP:0002979	Bowing of the legs	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0006487	HP:0002979	Bowing of the legs	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.		124
HP:0006487	HP:0002979	Bowing of the legs	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0006487	HP:0002979	Bowing of the legs	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0006487	HP:0002979	Bowing of the legs	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0006487	HP:0002979	Bowing of the legs	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0006487	HP:0002979	Bowing of the legs	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0006487	HP:0002979	Bowing of the legs	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0006487	HP:0002979	Bowing of the legs	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0006487	HP:0002979	Bowing of the legs	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0006487	HP:0002979	Bowing of the legs	1	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0006487	HP:0002979	Bowing of the legs	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0006487	HP:0002979	Bowing of the legs	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0006487	HP:0002979	Bowing of the legs	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0006487	HP:0002979	Bowing of the legs	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0006487	HP:0002979	Bowing of the legs	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0006487	HP:0002979	Bowing of the legs	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0006487	HP:0002979	Bowing of the legs	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0006487	HP:0002979	Bowing of the legs	1	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1			65
HP:0006487	HP:0002979	Bowing of the legs	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3			304
HP:0006487	HP:0002979	Bowing of the legs	1	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0006487	HP:0002979	Bowing of the legs	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0006487	HP:0002979	Bowing of the legs	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0006487	HP:0002979	Bowing of the legs	1	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3	.		2
HP:0006487	HP:0002979	Bowing of the legs	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0006487	HP:0002979	Bowing of the legs	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0006487	HP:0002979	Bowing of the legs	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0006487	HP:0002979	Bowing of the legs	1	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2			151
HP:0006487	HP:0002979	Bowing of the legs	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0006487	HP:0002979	Bowing of the legs	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0006487	HP:0002979	Bowing of the legs	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0006487	HP:0002979	Bowing of the legs	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0006487	HP:0002979	Bowing of the legs	1	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I			96
HP:0006487	HP:0002979	Bowing of the legs	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas			96
HP:0006487	HP:0002979	Bowing of the legs	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0006487	HP:0002979	Bowing of the legs	1	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II			102
HP:0006487	HP:0002979	Bowing of the legs	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas			102
HP:0006487	HP:0002979	Bowing of the legs	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0006487	HP:0002979	Bowing of the legs	1	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040282 - Frequent		51
HP:0006487	HP:0006488	Bowing of the arm	1	FGF23 CL E G H	8074	3680	OMIM:617993	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2			51
HP:0006487	HP:0002979	Bowing of the legs	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0006487	HP:0006488	Bowing of the arm	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0006487	HP:0002979	Bowing of the legs	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040283 - Occasional		175
HP:0006487	HP:0002979	Bowing of the legs	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040281 - Very frequent		145
HP:0006487	HP:0006488	Bowing of the arm	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0006487	HP:0002979	Bowing of the legs	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.		145
HP:0006487	HP:0002979	Bowing of the legs	1	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA			145
HP:0006487	HP:0002979	Bowing of the legs	1	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia			145
HP:0006487	HP:0002979	Bowing of the legs	1	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome			145
HP:0006487	HP:0002979	Bowing of the legs	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0006487	HP:0002979	Bowing of the legs	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0006487	HP:0002979	Bowing of the legs	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0006487	HP:0002979	Bowing of the legs	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	HP:0040283 - Occasional		2
HP:0006487	HP:0002979	Bowing of the legs	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0006487	HP:0006383	Progressive bowing of long bones	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		493
HP:0006487	HP:0002979	Bowing of the legs	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0006487	HP:0002979	Bowing of the legs	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0006487	HP:0002979	Bowing of the legs	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0006487	HP:0006488	Bowing of the arm	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0006487	HP:0006488	Bowing of the arm	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0006487	HP:0002979	Bowing of the legs	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0006487	HP:0006488	Bowing of the arm	1	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III			233
HP:0006487	HP:0002979	Bowing of the legs	1	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III			233
HP:0006487	HP:0006488	Bowing of the arm	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0006487	HP:0002979	Bowing of the legs	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0006487	HP:0002979	Bowing of the legs	1	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type			9
HP:0006487	HP:0002979	Bowing of the legs	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0006487	HP:0002979	Bowing of the legs	1	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0006487	HP:0002979	Bowing of the legs	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0006487	HP:0006488	Bowing of the arm	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0006487	HP:0002979	Bowing of the legs	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0006487	HP:0002979	Bowing of the legs	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0006487	HP:0002979	Bowing of the legs	1	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8			1
HP:0006487	HP:0006488	Bowing of the arm	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0006487	HP:0002979	Bowing of the legs	1	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma			57
HP:0006487	HP:0002979	Bowing of the legs	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0006487	HP:0002979	Bowing of the legs	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0006487	HP:0002979	Bowing of the legs	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0006487	HP:0002979	Bowing of the legs	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0006487	HP:0002979	Bowing of the legs	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0006487	HP:0002979	Bowing of the legs	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0006487	HP:0002979	Bowing of the legs	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0006487	HP:0002979	Bowing of the legs	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0006487	HP:0002979	Bowing of the legs	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0006487	HP:0002979	Bowing of the legs	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0006487	HP:0006488	Bowing of the arm	1	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia			3
HP:0006487	HP:0002979	Bowing of the legs	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0006487	HP:0002979	Bowing of the legs	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0006487	HP:0002979	Bowing of the legs	1	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia			8
HP:0006487	HP:0002979	Bowing of the legs	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040282 - Frequent		345
HP:0006487	HP:0002979	Bowing of the legs	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0006487	HP:0006473	Anterior bowing of long bones	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0006487	HP:0002979	Bowing of the legs	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0006487	HP:0002979	Bowing of the legs	1	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0006487	HP:0002979	Bowing of the legs	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0006487	HP:0002979	Bowing of the legs	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0006487	HP:0002979	Bowing of the legs	1	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome			115
HP:0006487	HP:0002979	Bowing of the legs	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0006487	HP:0002979	Bowing of the legs	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0006487	HP:0006488	Bowing of the arm	1	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0006487	HP:0002979	Bowing of the legs	1	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0006487	HP:0002979	Bowing of the legs	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0006487	HP:0002979	Bowing of the legs	1	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia			44
HP:0006487	HP:0002979	Bowing of the legs	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0006487	HP:0006488	Bowing of the arm	1	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0006487	HP:0002979	Bowing of the legs	1	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0006487	HP:0006488	Bowing of the arm	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0006487	HP:0002979	Bowing of the legs	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2			14
HP:0006487	HP:0002979	Bowing of the legs	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0006487	HP:0002979	Bowing of the legs	1	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0006487	HP:0002979	Bowing of the legs	1	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type			167
HP:0006487	HP:0002979	Bowing of the legs	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0006487	HP:0002979	Bowing of the legs	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0006487	HP:0002979	Bowing of the legs	1	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0006487	HP:0006488	Bowing of the arm	1	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0006487	HP:0002979	Bowing of the legs	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0006487	HP:0006488	Bowing of the arm	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0006487	HP:0002979	Bowing of the legs	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0006487	HP:0002979	Bowing of the legs	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0006487	HP:0002979	Bowing of the legs	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0006487	HP:0002979	Bowing of the legs	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0006487	HP:0002979	Bowing of the legs	1	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0006487	HP:0002979	Bowing of the legs	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0006487	HP:0002979	Bowing of the legs	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0006487	HP:0002979	Bowing of the legs	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0006487	HP:0002979	Bowing of the legs	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0006487	HP:0002979	Bowing of the legs	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0006487	HP:0002979	Bowing of the legs	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0006487	HP:0006383	Progressive bowing of long bones	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		11
HP:0006487	HP:0002979	Bowing of the legs	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0006487	HP:0002979	Bowing of the legs	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0006487	HP:0002979	Bowing of the legs	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0006487	HP:0002979	Bowing of the legs	1	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related	.		32
HP:0006487	HP:0002979	Bowing of the legs	1	MATN3 CL E G H	4148	6909	ORPHA:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type	HP:0040281 - Very frequent		32
HP:0006487	HP:0002979	Bowing of the legs	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0006487	HP:0002979	Bowing of the legs	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0006487	HP:0002979	Bowing of the legs	1	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0006487	HP:0002979	Bowing of the legs	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0006487	HP:0002979	Bowing of the legs	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0006487	HP:0002979	Bowing of the legs	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0006487	HP:0006383	Progressive bowing of long bones	1	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type			52
HP:0006487	HP:0002979	Bowing of the legs	1	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type			52
HP:0006487	HP:0006383	Progressive bowing of long bones	1	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type			52
HP:0006487	HP:0002979	Bowing of the legs	1	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type			52
HP:0006487	HP:0002979	Bowing of the legs	1	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0006487	HP:0002979	Bowing of the legs	1	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0006487	HP:0006488	Bowing of the arm	1	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0006487	HP:0002979	Bowing of the legs	1	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2			31
HP:0006487	HP:0002979	Bowing of the legs	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome			134
HP:0006487	HP:0002979	Bowing of the legs	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.		85
HP:0006487	HP:0002979	Bowing of the legs	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0006487	HP:0002979	Bowing of the legs	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0006487	HP:0002979	Bowing of the legs	1	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0006487	HP:0002979	Bowing of the legs	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0006487	HP:0002979	Bowing of the legs	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0006487	HP:0002979	Bowing of the legs	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0006487	HP:0002979	Bowing of the legs	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0006487	HP:0002979	Bowing of the legs	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare		1952
HP:0006487	HP:0002979	Bowing of the legs	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0006487	HP:0002979	Bowing of the legs	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0006487	HP:0002979	Bowing of the legs	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0006487	HP:0002979	Bowing of the legs	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0006487	HP:0002979	Bowing of the legs	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0006487	HP:0006488	Bowing of the arm	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type			53
HP:0006487	HP:0002979	Bowing of the legs	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0006487	HP:0002979	Bowing of the legs	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0006487	HP:0002979	Bowing of the legs	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0006487	HP:0002979	Bowing of the legs	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0006487	HP:0002979	Bowing of the legs	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0006487	HP:0006488	Bowing of the arm	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0006487	HP:0002979	Bowing of the legs	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0006487	HP:0002979	Bowing of the legs	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0006487	HP:0002979	Bowing of the legs	1	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	.		20
HP:0006487	HP:0002979	Bowing of the legs	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0006487	HP:0006488	Bowing of the arm	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0006487	HP:0002979	Bowing of the legs	1	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0006487	HP:0002979	Bowing of the legs	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040281 - Very frequent		11
HP:0006487	HP:0002979	Bowing of the legs	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0006487	HP:0002979	Bowing of the legs	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0006487	HP:0002979	Bowing of the legs	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0006487	HP:0002979	Bowing of the legs	1	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0006487	HP:0002979	Bowing of the legs	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome			79
HP:0006487	HP:0002979	Bowing of the legs	1	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type			8
HP:0006487	HP:0002979	Bowing of the legs	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0006487	HP:0002979	Bowing of the legs	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0006487	HP:0006488	Bowing of the arm	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0006487	HP:0002979	Bowing of the legs	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0006487	HP:0006488	Bowing of the arm	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0006487	HP:0002979	Bowing of the legs	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0006487	HP:0002979	Bowing of the legs	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0006487	HP:0002979	Bowing of the legs	1	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1			2
HP:0006487	HP:0002979	Bowing of the legs	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0006487	HP:0002979	Bowing of the legs	1	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0006487	HP:0002979	Bowing of the legs	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0006487	HP:0002979	Bowing of the legs	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0006487	HP:0006488	Bowing of the arm	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0006487	HP:0002979	Bowing of the legs	1	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0006487	HP:0002979	Bowing of the legs	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0006487	HP:0002979	Bowing of the legs	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0006487	HP:0002979	Bowing of the legs	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0006487	HP:0002979	Bowing of the legs	1	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2			53
HP:0006487	HP:0006488	Bowing of the arm	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0006487	HP:0002979	Bowing of the legs	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0006487	HP:0002979	Bowing of the legs	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0006487	HP:0006488	Bowing of the arm	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0006487	HP:0002979	Bowing of the legs	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0006487	HP:0002979	Bowing of the legs	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0006487	HP:0006488	Bowing of the arm	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0006487	HP:0002979	Bowing of the legs	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0006487	HP:0002979	Bowing of the legs	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0006487	HP:0002979	Bowing of the legs	1	RMRP CL E G H	6023	10031	OMIM:250460	Metaphyseal dysplasia without hypotrichosis			37
HP:0006487	HP:0002979	Bowing of the legs	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0006487	HP:0006488	Bowing of the arm	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0006487	HP:0006488	Bowing of the arm	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0006487	HP:0002979	Bowing of the legs	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0006487	HP:0002979	Bowing of the legs	1	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0006487	HP:0006488	Bowing of the arm	1	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0006487	HP:0002979	Bowing of the legs	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0006487	HP:0002979	Bowing of the legs	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0006487	HP:0002979	Bowing of the legs	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0006487	HP:0002979	Bowing of the legs	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0006487	HP:0002979	Bowing of the legs	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0006487	HP:0002979	Bowing of the legs	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0006487	HP:0006488	Bowing of the arm	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0006487	HP:0002979	Bowing of the legs	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0006487	HP:0002979	Bowing of the legs	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0006487	HP:0002979	Bowing of the legs	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0006487	HP:0002979	Bowing of the legs	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0006487	HP:0002979	Bowing of the legs	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0006487	HP:0002979	Bowing of the legs	1	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease			3
HP:0006487	HP:0002979	Bowing of the legs	1	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0006487	HP:0006488	Bowing of the arm	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia			66
HP:0006487	HP:0002979	Bowing of the legs	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0006487	HP:0006488	Bowing of the arm	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0006487	HP:0002979	Bowing of the legs	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0006487	HP:0006488	Bowing of the arm	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0006487	HP:0002979	Bowing of the legs	1	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature			66
HP:0006487	HP:0002979	Bowing of the legs	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0006487	HP:0002979	Bowing of the legs	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0006487	HP:0002979	Bowing of the legs	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0006487	HP:0002979	Bowing of the legs	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0006487	HP:0002979	Bowing of the legs	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0006487	HP:0002979	Bowing of the legs	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0006487	HP:0006488	Bowing of the arm	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0006487	HP:0002979	Bowing of the legs	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040283 - Occasional		47
HP:0006487	HP:0002979	Bowing of the legs	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040283 - Occasional		52
HP:0006487	HP:0002979	Bowing of the legs	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0006487	HP:0002979	Bowing of the legs	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0006487	HP:0002979	Bowing of the legs	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0006487	HP:0002979	Bowing of the legs	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0006487	HP:0002979	Bowing of the legs	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0006487	HP:0002979	Bowing of the legs	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0006487	HP:0002979	Bowing of the legs	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0006487	HP:0006488	Bowing of the arm	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0006487	HP:0002979	Bowing of the legs	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0006487	HP:0002979	Bowing of the legs	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0006487	HP:0002979	Bowing of the legs	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0006487	HP:0002979	Bowing of the legs	1	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0006487	HP:0002979	Bowing of the legs	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0006487	HP:0002979	Bowing of the legs	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0006487	HP:0002979	Bowing of the legs	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0006487	HP:0002979	Bowing of the legs	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0006487	HP:0006488	Bowing of the arm	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0006487	HP:0002979	Bowing of the legs	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0006487	HP:0002979	Bowing of the legs	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0006487	HP:0002979	Bowing of the legs	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0006487	HP:0002979	Bowing of the legs	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0006487	HP:0002979	Bowing of the legs	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0006487	HP:0002979	Bowing of the legs	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0006487	HP:0002979	Bowing of the legs	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0006487	HP:0006488	Bowing of the arm	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0006487	HP:0002979	Bowing of the legs	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0006487	HP:0002979	Bowing of the legs	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0006487	HP:0002979	Bowing of the legs	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0006487	HP:0002979	Bowing of the legs	1	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism			214
HP:0006487	HP:0002979	Bowing of the legs	1	TRPV4 CL E G H	59341	18083	OMIM:184095	Spondyloepiphyseal dysplasia, Maroteaux type			214
HP:0006487	HP:0002979	Bowing of the legs	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0006487	HP:0006488	Bowing of the arm	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0006487	HP:0002979	Bowing of the legs	1	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0006487	HP:0002979	Bowing of the legs	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0006487	HP:0002979	Bowing of the legs	1	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0006487	HP:0002979	Bowing of the legs	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0006487	HP:0002979	Bowing of the legs	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0006487	HP:0002979	Bowing of the legs	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0006487	HP:0002979	Bowing of the legs	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0006487	HP:0002979	Bowing of the legs	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0006487	HP:0006488	Bowing of the arm	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0006487	HP:0002979	Bowing of the legs	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0006487	HP:0002979	Bowing of the legs	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0006487	HP:0006488	Bowing of the arm	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0006487	HP:0002979	Bowing of the legs	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0006487	HP:0006488	Bowing of the arm	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0006487	HP:0006488	Bowing of the arm	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0006487	HP:0002979	Bowing of the legs	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0006487	HP:0002979	Bowing of the legs	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0006487	HP:0002979	Bowing of the legs	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0006487	HP:0002979	Bowing of the legs	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0006487	HP:0002979	Bowing of the legs	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0006487	HP:0002979	Bowing of the legs	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0006487	HP:0002979	Bowing of the legs	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0006487	HP:0005891	Progressive forearm bowing	2	CL E G H
HP:0006487	HP:0002970	Genu varum	2	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type	.		34
HP:0006487	HP:0002857	Genu valgum	2	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type	.		34
HP:0006487	HP:0002857	Genu valgum	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0006487	HP:0002970	Genu varum	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0006487	HP:0002970	Genu varum	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare		2
HP:0006487	HP:0002857	Genu valgum	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.		120
HP:0006487	HP:0002857	Genu valgum	2	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0006487	HP:0002857	Genu valgum	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.		192
HP:0006487	HP:0002857	Genu valgum	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0006487	HP:0002857	Genu valgum	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0006487	HP:0003956	Bowed forearm bones	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43			8
HP:0006487	HP:0003865	Bowed humerus	2	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0006487	HP:0002857	Genu valgum	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0006487	HP:0003956	Bowed forearm bones	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0006487	HP:0002857	Genu valgum	2	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:0006487	HP:0002857	Genu valgum	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0006487	HP:0002857	Genu valgum	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0006487	HP:0002857	Genu valgum	2	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional		101
HP:0006487	HP:0002980	Femoral bowing	2	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional		4
HP:0006487	HP:0002857	Genu valgum	2	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type	.
HP:0006487	HP:0002857	Genu valgum	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		276
HP:0006487	HP:0002857	Genu valgum	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0006487	HP:0002857	Genu valgum	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0006487	HP:0002970	Genu varum	2	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040282 - Frequent		13
HP:0006487	HP:0002857	Genu valgum	2	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0006487	HP:0002970	Genu varum	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.		85
HP:0006487	HP:0002970	Genu varum	2	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0006487	HP:0002857	Genu valgum	2	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent		242
HP:0006487	HP:0002970	Genu varum	2	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0006487	HP:0002857	Genu valgum	2	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0006487	HP:0002970	Genu varum	2	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0006487	HP:0002857	Genu valgum	2	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0006487	HP:0002857	Genu valgum	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0006487	HP:0002970	Genu varum	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0006487	HP:0002857	Genu valgum	2	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent		165
HP:0006487	HP:0002857	Genu valgum	2	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:0006487	HP:0002982	Tibial bowing	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0006487	HP:0002857	Genu valgum	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0006487	HP:0003956	Bowed forearm bones	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0006487	HP:0003956	Bowed forearm bones	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0006487	HP:0010502	Fibular bowing	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0006487	HP:0002982	Tibial bowing	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0006487	HP:0010502	Fibular bowing	2	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0006487	HP:0002982	Tibial bowing	2	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0006487	HP:0002980	Femoral bowing	2	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0006487	HP:0002980	Femoral bowing	2	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0006487	HP:0002982	Tibial bowing	2	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0006487	HP:0010502	Fibular bowing	2	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0006487	HP:0002857	Genu valgum	2	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040282 - Frequent		102
HP:0006487	HP:0002857	Genu valgum	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0006487	HP:0002982	Tibial bowing	2	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional		6
HP:0006487	HP:0002857	Genu valgum	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0006487	HP:0002857	Genu valgum	2	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type			79
HP:0006487	HP:0002980	Femoral bowing	2	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent		79
HP:0006487	HP:0002970	Genu varum	2	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.		79
HP:0006487	HP:0002982	Tibial bowing	2	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type			79
HP:0006487	HP:0002970	Genu varum	2	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent		79
HP:0006487	HP:0002980	Femoral bowing	2	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.		79
HP:0006487	HP:0002980	Femoral bowing	2	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040282 - Frequent		215
HP:0006487	HP:0002857	Genu valgum	2	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		215
HP:0006487	HP:0002857	Genu valgum	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent		215
HP:0006487	HP:0003956	Bowed forearm bones	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0006487	HP:0002982	Tibial bowing	2	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional		222
HP:0006487	HP:0010502	Fibular bowing	2	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional		222
HP:0006487	HP:0002982	Tibial bowing	2	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease	.		373
HP:0006487	HP:0002980	Femoral bowing	2	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.		373
HP:0006487	HP:0002982	Tibial bowing	2	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.		373
HP:0006487	HP:0002982	Tibial bowing	2	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.		373
HP:0006487	HP:0002980	Femoral bowing	2	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0006487	HP:0002857	Genu valgum	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent		243
HP:0006487	HP:0002982	Tibial bowing	2	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.		243
HP:0006487	HP:0002982	Tibial bowing	2	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.		243
HP:0006487	HP:0002980	Femoral bowing	2	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0006487	HP:0002857	Genu valgum	2	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040282 - Frequent		284
HP:0006487	HP:0002857	Genu valgum	2	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.		284
HP:0006487	HP:0002970	Genu varum	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0006487	HP:0002982	Tibial bowing	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0006487	HP:0002857	Genu valgum	2	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent		284
HP:0006487	HP:0002970	Genu varum	2	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040282 - Frequent		284
HP:0006487	HP:0003956	Bowed forearm bones	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0006487	HP:0002857	Genu valgum	2	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.		284
HP:0006487	HP:0002857	Genu valgum	2	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040282 - Frequent		284
HP:0006487	HP:0002970	Genu varum	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		284
HP:0006487	HP:0002982	Tibial bowing	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		284
HP:0006487	HP:0002857	Genu valgum	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		284
HP:0006487	HP:0002970	Genu varum	2	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	HP:0040284 - Very rare		284
HP:0006487	HP:0002857	Genu valgum	2	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040282 - Frequent		284
HP:0006487	HP:0002857	Genu valgum	2	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		110
HP:0006487	HP:0002857	Genu valgum	2	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional		110
HP:0006487	HP:0002970	Genu varum	2	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional		110
HP:0006487	HP:0002857	Genu valgum	2	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0006487	HP:0002857	Genu valgum	2	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		110
HP:0006487	HP:0002970	Genu varum	2	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2	.		110
HP:0006487	HP:0002970	Genu varum	2	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional		110
HP:0006487	HP:0002857	Genu valgum	2	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional		110
HP:0006487	HP:0002857	Genu valgum	2	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		137
HP:0006487	HP:0002970	Genu varum	2	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional		137
HP:0006487	HP:0002857	Genu valgum	2	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional		137
HP:0006487	HP:0002857	Genu valgum	2	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.		89
HP:0006487	HP:0002970	Genu varum	2	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040284 - Very rare		89
HP:0006487	HP:0002857	Genu valgum	2	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040284 - Very rare		89
HP:0006487	HP:0002970	Genu varum	2	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional		89
HP:0006487	HP:0002857	Genu valgum	2	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional		89
HP:0006487	HP:0002970	Genu varum	2	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0006487	HP:0002857	Genu valgum	2	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0006487	HP:0002982	Tibial bowing	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0006487	HP:0002857	Genu valgum	2	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0006487	HP:0002857	Genu valgum	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0006487	HP:0002857	Genu valgum	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.		178
HP:0006487	HP:0002857	Genu valgum	2	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent		60
HP:0006487	HP:0002980	Femoral bowing	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		41
HP:0006487	HP:0002982	Tibial bowing	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		41
HP:0006487	HP:0002970	Genu varum	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		41
HP:0006487	HP:0002982	Tibial bowing	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0006487	HP:0002980	Femoral bowing	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0006487	HP:0010502	Fibular bowing	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0006487	HP:0002980	Femoral bowing	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		5
HP:0006487	HP:0002982	Tibial bowing	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		5
HP:0006487	HP:0002970	Genu varum	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		5
HP:0006487	HP:0010502	Fibular bowing	2	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0006487	HP:0002980	Femoral bowing	2	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0006487	HP:0002982	Tibial bowing	2	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0006487	HP:0002970	Genu varum	2	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0006487	HP:0002970	Genu varum	2	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0006487	HP:0002970	Genu varum	2	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0006487	HP:0002982	Tibial bowing	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0006487	HP:0002980	Femoral bowing	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0006487	HP:0002970	Genu varum	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		48
HP:0006487	HP:0002982	Tibial bowing	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent		48
HP:0006487	HP:0002857	Genu valgum	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0006487	HP:0002857	Genu valgum	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0006487	HP:0002970	Genu varum	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0006487	HP:0002982	Tibial bowing	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0006487	HP:0002980	Femoral bowing	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0006487	HP:0002857	Genu valgum	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional		65
HP:0006487	HP:0002857	Genu valgum	2	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.		65
HP:0006487	HP:0002970	Genu varum	2	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.		65
HP:0006487	HP:0002980	Femoral bowing	2	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	.		304
HP:0006487	HP:0002980	Femoral bowing	2	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0006487	HP:0002857	Genu valgum	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		7
HP:0006487	HP:0002970	Genu varum	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.		1
HP:0006487	HP:0002857	Genu valgum	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0006487	HP:0002857	Genu valgum	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0006487	HP:0002857	Genu valgum	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0006487	HP:0002980	Femoral bowing	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0006487	HP:0002970	Genu varum	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		151
HP:0006487	HP:0002982	Tibial bowing	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent		151
HP:0006487	HP:0002857	Genu valgum	2	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.		151
HP:0006487	HP:0002970	Genu varum	2	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.		151
HP:0006487	HP:0002857	Genu valgum	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		209
HP:0006487	HP:0002857	Genu valgum	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.		209
HP:0006487	HP:0002857	Genu valgum	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		137
HP:0006487	HP:0002857	Genu valgum	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.		137
HP:0006487	HP:0002857	Genu valgum	2	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	.		96
HP:0006487	HP:0002857	Genu valgum	2	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		96
HP:0006487	HP:0002857	Genu valgum	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional		96
HP:0006487	HP:0002857	Genu valgum	2	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II	.		102
HP:0006487	HP:0002857	Genu valgum	2	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		102
HP:0006487	HP:0002857	Genu valgum	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		1361
HP:0006487	HP:0003956	Bowed forearm bones	2	FGF23 CL E G H	8074	3680	OMIM:617993	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2			51
HP:0006487	HP:0003956	Bowed forearm bones	2	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0006487	HP:0002980	Femoral bowing	2	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		175
HP:0006487	HP:0003956	Bowed forearm bones	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0006487	HP:0002980	Femoral bowing	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0006487	HP:0002970	Genu varum	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.		145
HP:0006487	HP:0002970	Genu varum	2	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA	.		145
HP:0006487	HP:0002970	Genu varum	2	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040282 - Frequent		145
HP:0006487	HP:0002982	Tibial bowing	2	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	HP:0040282 - Frequent		145
HP:0006487	HP:0002980	Femoral bowing	2	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	HP:0040282 - Frequent		145
HP:0006487	HP:0010502	Fibular bowing	2	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	HP:0040282 - Frequent		145
HP:0006487	HP:0002980	Femoral bowing	2	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent		145
HP:0006487	HP:0002980	Femoral bowing	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0006487	HP:0002982	Tibial bowing	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional		2
HP:0006487	HP:0002857	Genu valgum	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0006487	HP:0002857	Genu valgum	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0006487	HP:0002857	Genu valgum	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0006487	HP:0002982	Tibial bowing	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0006487	HP:0002980	Femoral bowing	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0006487	HP:0002980	Femoral bowing	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0006487	HP:0003956	Bowed forearm bones	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0006487	HP:0002982	Tibial bowing	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0006487	HP:0002982	Tibial bowing	2	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.		233
HP:0006487	HP:0003956	Bowed forearm bones	2	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0006487	HP:0002982	Tibial bowing	2	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.		233
HP:0006487	HP:0003956	Bowed forearm bones	2	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III			233
HP:0006487	HP:0003865	Bowed humerus	2	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.		233
HP:0006487	HP:0002982	Tibial bowing	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		9
HP:0006487	HP:0002970	Genu varum	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		9
HP:0006487	HP:0002857	Genu valgum	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		9
HP:0006487	HP:0002970	Genu varum	2	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	HP:0040284 - Very rare		9
HP:0006487	HP:0002857	Genu valgum	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.		123
HP:0006487	HP:0002857	Genu valgum	2	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040283 - Occasional		121
HP:0006487	HP:0003956	Bowed forearm bones	2	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0006487	HP:0002980	Femoral bowing	2	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0006487	HP:0002857	Genu valgum	2	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.		120
HP:0006487	HP:0002857	Genu valgum	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		1
HP:0006487	HP:0002857	Genu valgum	2	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8			1
HP:0006487	HP:0003956	Bowed forearm bones	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0006487	HP:0002857	Genu valgum	2	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.		57
HP:0006487	HP:0002982	Tibial bowing	2	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0006487	HP:0002980	Femoral bowing	2	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0006487	HP:0002857	Genu valgum	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0006487	HP:0002857	Genu valgum	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0006487	HP:0002857	Genu valgum	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0006487	HP:0002857	Genu valgum	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0006487	HP:0002857	Genu valgum	2	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0006487	HP:0002857	Genu valgum	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040282 - Frequent		580
HP:0006487	HP:0002857	Genu valgum	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0006487	HP:0002857	Genu valgum	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0006487	HP:0002857	Genu valgum	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0006487	HP:0003956	Bowed forearm bones	2	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia			3
HP:0006487	HP:0002970	Genu varum	2	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		55
HP:0006487	HP:0002857	Genu valgum	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0006487	HP:0002857	Genu valgum	2	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia	HP:0040283 - Occasional		8
HP:0006487	HP:0002857	Genu valgum	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent		345
HP:0006487	HP:0002857	Genu valgum	2	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:0006487	HP:0002857	Genu valgum	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0006487	HP:0002970	Genu varum	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0006487	HP:0002857	Genu valgum	2	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.		115
HP:0006487	HP:0002857	Genu valgum	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0006487	HP:0002857	Genu valgum	2	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional		48
HP:0006487	HP:0003956	Bowed forearm bones	2	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0006487	HP:0002857	Genu valgum	2	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0006487	HP:0002970	Genu varum	2	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040282 - Frequent		44
HP:0006487	HP:0002970	Genu varum	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0006487	HP:0002857	Genu valgum	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0006487	HP:0002857	Genu valgum	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0002970	Genu varum	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0006487	HP:0002857	Genu valgum	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0006487	HP:0003865	Bowed humerus	2	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0006487	HP:0002857	Genu valgum	2	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.		14
HP:0006487	HP:0002970	Genu varum	2	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent		14
HP:0006487	HP:0002857	Genu valgum	2	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent		14
HP:0006487	HP:0002857	Genu valgum	2	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.		167
HP:0006487	HP:0002857	Genu valgum	2	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040281 - Very frequent		167
HP:0006487	HP:0002970	Genu varum	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0006487	HP:0002857	Genu valgum	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0006487	HP:0002857	Genu valgum	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		196
HP:0006487	HP:0002980	Femoral bowing	2	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0006487	HP:0003956	Bowed forearm bones	2	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0006487	HP:0003865	Bowed humerus	2	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0006487	HP:0003865	Bowed humerus	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0006487	HP:0003956	Bowed forearm bones	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0006487	HP:0002980	Femoral bowing	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0006487	HP:0002857	Genu valgum	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0006487	HP:0002857	Genu valgum	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0006487	HP:0002982	Tibial bowing	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0006487	HP:0002980	Femoral bowing	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0006487	HP:0002857	Genu valgum	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0006487	HP:0002857	Genu valgum	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0006487	HP:0002970	Genu varum	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0006487	HP:0002857	Genu valgum	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0006487	HP:0002857	Genu valgum	2	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		4
HP:0006487	HP:0002970	Genu varum	2	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0006487	HP:0002857	Genu valgum	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0006487	HP:0002980	Femoral bowing	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0006487	HP:0002857	Genu valgum	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0006487	HP:0002857	Genu valgum	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		134
HP:0006487	HP:0002857	Genu valgum	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		178
HP:0006487	HP:0002857	Genu valgum	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0006487	HP:0002857	Genu valgum	2	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0006487	HP:0002970	Genu varum	2	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040282 - Frequent		32
HP:0006487	HP:0002857	Genu valgum	2	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040282 - Frequent		32
HP:0006487	HP:0002980	Femoral bowing	2	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related			32
HP:0006487	HP:0002857	Genu valgum	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0006487	HP:0002982	Tibial bowing	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0006487	HP:0002857	Genu valgum	2	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040282 - Frequent		13
HP:0006487	HP:0002857	Genu valgum	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0006487	HP:0002857	Genu valgum	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0006487	HP:0002857	Genu valgum	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0002857	Genu valgum	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0006487	HP:0006409	Progressive leg bowing	2	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type	HP:0040281 - Very frequent		52
HP:0006487	HP:0002857	Genu valgum	2	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type	.		52
HP:0006487	HP:0006409	Progressive leg bowing	2	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type	.		52
HP:0006487	HP:0002970	Genu varum	2	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type	HP:0040281 - Very frequent		52
HP:0006487	HP:0002980	Femoral bowing	2	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type	HP:0040282 - Frequent		52
HP:0006487	HP:0002982	Tibial bowing	2	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type	HP:0040282 - Frequent		52
HP:0006487	HP:0002970	Genu varum	2	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.		52
HP:0006487	HP:0002982	Tibial bowing	2	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.		52
HP:0006487	HP:0002980	Femoral bowing	2	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.		52
HP:0006487	HP:0003956	Bowed forearm bones	2	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0006487	HP:0002970	Genu varum	2	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type	HP:0040282 - Frequent		52
HP:0006487	HP:0002970	Genu varum	2	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2			31
HP:0006487	HP:0002857	Genu valgum	2	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional		134
HP:0006487	HP:0002857	Genu valgum	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0006487	HP:0002857	Genu valgum	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0006487	HP:0002857	Genu valgum	2	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0006487	HP:0002857	Genu valgum	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0006487	HP:0002970	Genu varum	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0006487	HP:0002980	Femoral bowing	2	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.		43
HP:0006487	HP:0002980	Femoral bowing	2	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0006487	HP:0002980	Femoral bowing	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0006487	HP:0002857	Genu valgum	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0006487	HP:0002857	Genu valgum	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional		1952
HP:0006487	HP:0002857	Genu valgum	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.		1952
HP:0006487	HP:0002857	Genu valgum	2	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.		10
HP:0006487	HP:0002970	Genu varum	2	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.		10
HP:0006487	HP:0002857	Genu valgum	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0006487	HP:0002857	Genu valgum	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0006487	HP:0003956	Bowed forearm bones	2	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type			53
HP:0006487	HP:0002857	Genu valgum	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1	.		544
HP:0006487	HP:0002857	Genu valgum	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0006487	HP:0002857	Genu valgum	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0006487	HP:0002970	Genu varum	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0006487	HP:0002857	Genu valgum	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0006487	HP:0002970	Genu varum	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0006487	HP:0002982	Tibial bowing	2	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.		43
HP:0006487	HP:0003956	Bowed forearm bones	2	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0006487	HP:0002980	Femoral bowing	2	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.		43
HP:0006487	HP:0002857	Genu valgum	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0006487	HP:0002982	Tibial bowing	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0006487	HP:0003956	Bowed forearm bones	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0006487	HP:0002982	Tibial bowing	2	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.		11
HP:0006487	HP:0002980	Femoral bowing	2	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.		11
HP:0006487	HP:0002857	Genu valgum	2	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent		66
HP:0006487	HP:0002982	Tibial bowing	2	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0006487	HP:0002857	Genu valgum	2	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0006487	HP:0002980	Femoral bowing	2	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0006487	HP:0010502	Fibular bowing	2	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0006487	HP:0002970	Genu varum	2	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0006487	HP:0002857	Genu valgum	2	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0006487	HP:0002980	Femoral bowing	2	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.		45
HP:0006487	HP:0002857	Genu valgum	2	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional		79
HP:0006487	HP:0002980	Femoral bowing	2	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.		8
HP:0006487	HP:0002970	Genu varum	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0006487	HP:0002970	Genu varum	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0006487	HP:0003956	Bowed forearm bones	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0006487	HP:0002980	Femoral bowing	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.		76
HP:0006487	HP:0003956	Bowed forearm bones	2	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0006487	HP:0002980	Femoral bowing	2	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		76
HP:0006487	HP:0002980	Femoral bowing	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0006487	HP:0002857	Genu valgum	2	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1			2
HP:0006487	HP:0002857	Genu valgum	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0006487	HP:0002857	Genu valgum	2	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0006487	HP:0002857	Genu valgum	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0006487	HP:0003956	Bowed forearm bones	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0006487	HP:0002857	Genu valgum	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0006487	HP:0002970	Genu varum	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0006487	HP:0002980	Femoral bowing	2	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0006487	HP:0002857	Genu valgum	2	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0006487	HP:0002857	Genu valgum	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0002857	Genu valgum	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0002857	Genu valgum	2	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040282 - Frequent		31
HP:0006487	HP:0002970	Genu varum	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0006487	HP:0002857	Genu valgum	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0006487	HP:0002857	Genu valgum	2	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2	.		53
HP:0006487	HP:0002970	Genu varum	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0006487	HP:0002970	Genu varum	2	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040282 - Frequent		10
HP:0006487	HP:0002980	Femoral bowing	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0006487	HP:0003956	Bowed forearm bones	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0006487	HP:0003956	Bowed forearm bones	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0006487	HP:0002970	Genu varum	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional		445
HP:0006487	HP:0002857	Genu valgum	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0006487	HP:0003956	Bowed forearm bones	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0006487	HP:0002980	Femoral bowing	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.		37
HP:0006487	HP:0002982	Tibial bowing	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0006487	HP:0002970	Genu varum	2	RMRP CL E G H	6023	10031	OMIM:250460	Metaphyseal dysplasia without hypotrichosis	.		37
HP:0006487	HP:0003865	Bowed humerus	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0006487	HP:0002980	Femoral bowing	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0006487	HP:0003956	Bowed forearm bones	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0006487	HP:0002857	Genu valgum	2	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0006487	HP:0002970	Genu varum	2	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0006487	HP:0003865	Bowed humerus	2	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0006487	HP:0002980	Femoral bowing	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0006487	HP:0002857	Genu valgum	2	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:0006487	HP:0002980	Femoral bowing	2	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0006487	HP:0002982	Tibial bowing	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0006487	HP:0002857	Genu valgum	2	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional		90
HP:0006487	HP:0002982	Tibial bowing	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0006487	HP:0002982	Tibial bowing	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0006487	HP:0002980	Femoral bowing	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.		11
HP:0006487	HP:0003956	Bowed forearm bones	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0006487	HP:0002857	Genu valgum	2	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.		52
HP:0006487	HP:0002982	Tibial bowing	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0006487	HP:0002982	Tibial bowing	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0006487	HP:0002857	Genu valgum	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0006487	HP:0002857	Genu valgum	2	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease	.		3
HP:0006487	HP:0002980	Femoral bowing	2	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility	HP:0040284 - Very rare
HP:0006487	HP:0003956	Bowed forearm bones	2	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia			66
HP:0006487	HP:0003956	Bowed forearm bones	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0006487	HP:0002857	Genu valgum	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040282 - Frequent		66
HP:0006487	HP:0002970	Genu varum	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent		66
HP:0006487	HP:0002982	Tibial bowing	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent		66
HP:0006487	HP:0002982	Tibial bowing	2	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0006487	HP:0003956	Bowed forearm bones	2	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0006487	HP:0002857	Genu valgum	2	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent		66
HP:0006487	HP:0002982	Tibial bowing	2	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent		66
HP:0006487	HP:0002857	Genu valgum	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0006487	HP:0002857	Genu valgum	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		150
HP:0006487	HP:0002857	Genu valgum	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0006487	HP:0002857	Genu valgum	2	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent		166
HP:0006487	HP:0002857	Genu valgum	2	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0006487	HP:0003956	Bowed forearm bones	2	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0006487	HP:0002857	Genu valgum	2	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent		166
HP:0006487	HP:0010502	Fibular bowing	2	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0006487	HP:0002982	Tibial bowing	2	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0006487	HP:0002980	Femoral bowing	2	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0006487	HP:0002970	Genu varum	2	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		13
HP:0006487	HP:0002982	Tibial bowing	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0006487	HP:0002982	Tibial bowing	2	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0006487	HP:0002857	Genu valgum	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0002857	Genu valgum	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0006487	HP:0002980	Femoral bowing	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0006487	HP:0002980	Femoral bowing	2	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040282 - Frequent		109
HP:0006487	HP:0002982	Tibial bowing	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0006487	HP:0002982	Tibial bowing	2	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent		109
HP:0006487	HP:0002857	Genu valgum	2	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional		66
HP:0006487	HP:0002857	Genu valgum	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0006487	HP:0002857	Genu valgum	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0006487	HP:0002857	Genu valgum	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0006487	HP:0002970	Genu varum	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0006487	HP:0002980	Femoral bowing	2	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0006487	HP:0002857	Genu valgum	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0006487	HP:0002857	Genu valgum	2	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional		13
HP:0006487	HP:0002857	Genu valgum	2	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0006487	HP:0002857	Genu valgum	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0006487	HP:0002980	Femoral bowing	2	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0006487	HP:0003956	Bowed forearm bones	2	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0006487	HP:0002980	Femoral bowing	2	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0006487	HP:0002980	Femoral bowing	2	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0006487	HP:0002857	Genu valgum	2	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.		44
HP:0006487	HP:0002857	Genu valgum	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040282 - Frequent
HP:0006487	HP:0002857	Genu valgum	2	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0006487	HP:0002970	Genu varum	2	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0006487	HP:0002970	Genu varum	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0006487	HP:0002857	Genu valgum	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0006487	HP:0002970	Genu varum	2	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.		133
HP:0006487	HP:0002857	Genu valgum	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional		171
HP:0006487	HP:0002857	Genu valgum	2	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0006487	HP:0002857	Genu valgum	2	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism	.		214
HP:0006487	HP:0002857	Genu valgum	2	TRPV4 CL E G H	59341	18083	OMIM:184095	Spondyloepiphyseal dysplasia, Maroteaux type	.		214
HP:0006487	HP:0002970	Genu varum	2	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent		214
HP:0006487	HP:0003956	Bowed forearm bones	2	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0006487	HP:0002980	Femoral bowing	2	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.		4
HP:0006487	HP:0002857	Genu valgum	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0006487	HP:0002970	Genu varum	2	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type	.		2
HP:0006487	HP:0002857	Genu valgum	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0006487	HP:0002970	Genu varum	2	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040282 - Frequent		104
HP:0006487	HP:0002857	Genu valgum	2	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040283 - Occasional		104
HP:0006487	HP:0002980	Femoral bowing	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0006487	HP:0010502	Fibular bowing	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0006487	HP:0002982	Tibial bowing	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0006487	HP:0002857	Genu valgum	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0006487	HP:0002857	Genu valgum	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent		546
HP:0006487	HP:0003956	Bowed forearm bones	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0006487	HP:0002857	Genu valgum	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0006487	HP:0002970	Genu varum	2	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0006487	HP:0003956	Bowed forearm bones	2	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0006487	HP:0002980	Femoral bowing	2	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0006487	HP:0003956	Bowed forearm bones	2	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0006487	HP:0002980	Femoral bowing	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0006487	HP:0003956	Bowed forearm bones	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0006487	HP:0002970	Genu varum	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	.		14
HP:0006487	HP:0002857	Genu valgum	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0006487	HP:0002857	Genu valgum	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0006487	HP:0002857	Genu valgum	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional		362
HP:0006487	HP:0002857	Genu valgum	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0006487	HP:0002857	Genu valgum	2	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0006487	HP:0005891	Progressive forearm bowing	3	CL E G H
HP:0006487	HP:0002986	Radial bowing	3	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43	.		8
HP:0006487	HP:0002986	Radial bowing	3	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0006487	HP:0003031	Ulnar bowing	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0006487	HP:0006414	Distal tibial bowing	3	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.		79
HP:0006487	HP:0002986	Radial bowing	3	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.		215
HP:0006487	HP:0003031	Ulnar bowing	3	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.		215
HP:0006487	HP:0005005	Femoral bowing present at birth, straightening with time	3	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.		373
HP:0006487	HP:0005005	Femoral bowing present at birth, straightening with time	3	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.		243
HP:0006487	HP:0002986	Radial bowing	3	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0006487	HP:0100531	Wind-swept deformity of the knees	3	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent		89
HP:0006487	HP:0005096	Distal femoral bowing	3	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		48
HP:0006487	HP:0005096	Distal femoral bowing	3	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		151
HP:0006487	HP:0002986	Radial bowing	3	FGF23 CL E G H	8074	3680	OMIM:617993	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2			51
HP:0006487	HP:0003031	Ulnar bowing	3	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		175
HP:0006487	HP:0003031	Ulnar bowing	3	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0006487	HP:0002986	Radial bowing	3	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0006487	HP:0005090	Lateral femoral bowing	3	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.		493
HP:0006487	HP:0002986	Radial bowing	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0006487	HP:0003031	Ulnar bowing	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0006487	HP:0002986	Radial bowing	3	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.		233
HP:0006487	HP:0002986	Radial bowing	3	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.		233
HP:0006487	HP:0002986	Radial bowing	3	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.		52
HP:0006487	HP:0005096	Distal femoral bowing	3	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.		52
HP:0006487	HP:0002986	Radial bowing	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent		270
HP:0006487	HP:0002986	Radial bowing	3	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.		3
HP:0006487	HP:0003031	Ulnar bowing	3	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.		3
HP:0006487	HP:0003031	Ulnar bowing	3	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0006487	HP:0002986	Radial bowing	3	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0006487	HP:0003031	Ulnar bowing	3	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0006487	HP:0002986	Radial bowing	3	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0006487	HP:0002986	Radial bowing	3	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.		52
HP:0006487	HP:0003031	Ulnar bowing	3	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.		52
HP:0006487	HP:0002986	Radial bowing	3	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.		53
HP:0006487	HP:0002986	Radial bowing	3	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.		43
HP:0006487	HP:0003031	Ulnar bowing	3	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0006487	HP:0002986	Radial bowing	3	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0006487	HP:0003031	Ulnar bowing	3	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.		76
HP:0006487	HP:0003031	Ulnar bowing	3	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		76
HP:0006487	HP:0003031	Ulnar bowing	3	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0006487	HP:0002986	Radial bowing	3	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0006487	HP:0003031	Ulnar bowing	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0006487	HP:0003031	Ulnar bowing	3	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.		445
HP:0006487	HP:0003031	Ulnar bowing	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0006487	HP:0002986	Radial bowing	3	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0006487	HP:0005096	Distal femoral bowing	3	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:0006487	HP:0006390	Anterior tibial bowing	3	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0006487	HP:0003031	Ulnar bowing	3	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.		11
HP:0006487	HP:0002986	Radial bowing	3	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.		66
HP:0006487	HP:0003031	Ulnar bowing	3	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent		66
HP:0006487	HP:0002986	Radial bowing	3	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent		66
HP:0006487	HP:0002986	Radial bowing	3	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0006487	HP:0003031	Ulnar bowing	3	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional		166
HP:0006487	HP:0002986	Radial bowing	3	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional		166
HP:0006487	HP:0006390	Anterior tibial bowing	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0006487	HP:0002986	Radial bowing	3	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.		166
HP:0006487	HP:0005090	Lateral femoral bowing	3	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0006487	HP:0002986	Radial bowing	3	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional		214
HP:0006487	HP:0003031	Ulnar bowing	3	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0006487	HP:0002986	Radial bowing	3	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0006487	HP:0002986	Radial bowing	3	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040282 - Frequent		13
HP:0006487	HP:0002986	Radial bowing	3	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13

Genes (290) :ACAN ACP5 ACTA1 ALPL ANAPC1 ANO5 ARCN1 ARSB ARSK ATP7A ATRX B2M B3GALT6 B3GAT3 B4GALT7 B9D1 B9D2 BAZ1B BCL7B BCOR BCR BHLHA9 BMPR1B BPNT2 BRAF BRF1 BUD23 C12ORF57 CAMK2A CANT1 CBS CC2D2A CCDC134 CCN6 CDC45 CENPT CEP290 CFL2 CHST3 CILK1 CLCN5 CLCN7 CLIP2 CLTCL1 COG5 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CPLANE1 CREB3L1 CRKL CRTAP CSGALNACT1 CSPP1 CTC1 CTNS CYP19A1 CYP27B1 CYP2R1 CYP3A4 DDR2 DDRGK1 DLK1 DMP1 DNAJC30 DYM DYNC2H1 DYNC2I1 DYNC2LI1 EFL1 EHHADH EIF2AK3 EIF4H ELN ENPP1 ESCO2 EVC EVC2 EXT1 EXT2 FAM20C FBN1 FBN2 FGF23 FGFR1 FGFR2 FGFR3 FIBP FKBP10 FKBP6 FLNA FLNB FN1 GALNS GAN GDF5 GLB1 GLI1 GLI3 GNPTG GORAB GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3B HBB HEATR3 HERC2 HOXA11 HPGD HS2ST1 HS6ST1 HSPG2 IARS2 IDH1 IDUA IFIH1 IFT172 IFT43 IFT57 IHH IL6ST IPO8 IPW KAT6A KDELR2 KIAA0753 KIF22 KIF7 KLHL41 KRAS LAMA5 LBR LIFR LIMK1 LMOD3 LONP1 LOXL3 LTBP1 MAGEL2 MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MATN3 MCTP2 MEG3 MEGF8 METTL27 MKRN3 MKRN3-AS1 MKS1 MLXIPL MMP13 MMP9 MPZ MTAP MTX2 NCF1 NDUFAF6 NEB NEK8 NEK9 NEPRO NF1 NFIX NKX3-2 NOTCH2 NPAP1 NPR2 NSD1 OCRL ORC1 ORC6 P3H1 P4HB P4HTM PAPSS2 PCNT PCYT1A PEPD PHEX PLOD2 PMP22 POLR1A POLR3A POLRMT POR PRKACA PRKACB PRKG2 PTH1R PTPN11 PUS3 PWAR1 PWRN1 PYCR1 RAB23 RAB33B RBM8A RECQL4 RFC2 RIPK4 RMRP RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPL13 RSPO2 RSPRY1 RTL1 RUNX2 SATB2 SCARF2 SEC24D SERPINH1 SETBP1 SF3B2 SFRP4 SGMS2 SH3PXD2B SHOX SKI SLC10A7 SLC26A2 SLC2A2 SLC34A1 SLC34A3 SLCO2A1 SMOC1 SNORD115-1 SNORD116-1 SNX10 SOX9 SP7 SPART SPTBN1 STX1A TBL2 TBXAS1 TCIRG1 TCTN1 TCTN2 TCTN3 TENT5A TFE3 TGFB1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM38B TMEM67 TNFRSF11A TNFRSF11B TNFSF11 TONSL TPM2 TRIP11 TRPS1 TRPV4 TRPV6 TUBB3 TXNDC15 UFSP2 UGP2 VDR VPS13B VPS35L VPS37D WDR35 WDR62 WNT7A XYLT1 ZBTB20 ZEB2 ZNF699 ZPR1

Diseases (348) :OMIM:608361 ORPHA:1855 ORPHA:171436 OMIM:241510 OMIM:241500 ORPHA:221008 ORPHA:53697 OMIM:166260 OMIM:617164 OMIM:253200 OMIM:619698 ORPHA:565 ORPHA:198 OMIM:304150 OMIM:309580 OMIM:241600 OMIM:609465 ORPHA:536467 ORPHA:2725 OMIM:271640 OMIM:245600 OMIM:130070 ORPHA:564 ORPHA:904 ORPHA:2712 ORPHA:261330 ORPHA:3329 ORPHA:2098 OMIM:614078 ORPHA:1340 OMIM:616202 ORPHA:1777 OMIM:617798 OMIM:251450 OMIM:617719 ORPHA:394 OMIM:619795 OMIM:208230 ORPHA:1159 OMIM:617063 OMIM:618702 OMIM:611134 ORPHA:263463 OMIM:143095 OMIM:612651 OMIM:300009 OMIM:300554 ORPHA:53 ORPHA:667 ORPHA:453510 ORPHA:263487 OMIM:156500 ORPHA:174 ORPHA:440354 ORPHA:250984 ORPHA:560 OMIM:154780 ORPHA:1427 OMIM:114000 OMIM:166200 OMIM:166210 OMIM:259420 OMIM:166220 ORPHA:230851 ORPHA:85198 OMIM:132450 OMIM:156550 ORPHA:166011 ORPHA:85166 OMIM:151210 OMIM:184250 ORPHA:94068 ORPHA:93315 OMIM:184255 ORPHA:93316 ORPHA:166002 OMIM:614134 OMIM:600204 OMIM:132400 ORPHA:93308 OMIM:177170 ORPHA:750 OMIM:277170 OMIM:616229 OMIM:610682 OMIM:618870 OMIM:612199 OMIM:219800 ORPHA:91 ORPHA:289157 OMIM:264700 OMIM:600081 OMIM:619073 OMIM:271665 OMIM:602557 ORPHA:93352 ORPHA:96334 ORPHA:289176 OMIM:223800 ORPHA:239 OMIM:607326 OMIM:613091 OMIM:615503 ORPHA:289 OMIM:617941 OMIM:615605 OMIM:226980 OMIM:613312 ORPHA:3103 OMIM:225500 OMIM:133700 ORPHA:321 ORPHA:502 OMIM:133701 OMIM:259775 ORPHA:2462 OMIM:121050 ORPHA:89937 OMIM:617993 OMIM:166250 OMIM:207410 ORPHA:313855 ORPHA:15 OMIM:100800 ORPHA:429 OMIM:146000 ORPHA:85165 ORPHA:1860 OMIM:187600 ORPHA:500095 OMIM:617107 ORPHA:2771 ORPHA:1826 OMIM:305620 OMIM:309350 ORPHA:2484 ORPHA:90650 ORPHA:90652 OMIM:311300 OMIM:304120 OMIM:108720 OMIM:108721 OMIM:272460 OMIM:253000 ORPHA:643 OMIM:201250 OMIM:253010 OMIM:618123 ORPHA:672 OMIM:252605 OMIM:231070 OMIM:253220 OMIM:619721 ORPHA:231214 ORPHA:231226 OMIM:620072 OMIM:176270 OMIM:605432 ORPHA:2796 OMIM:619194 OMIM:614880 ORPHA:1865 OMIM:224410 ORPHA:800 OMIM:255800 ORPHA:436174 OMIM:616007 ORPHA:99646 OMIM:607016 OMIM:182250 OMIM:615630 OMIM:617866 OMIM:617927 ORPHA:63446 OMIM:607778 OMIM:619751 OMIM:619472 OMIM:616268 OMIM:619131 OMIM:619479 OMIM:603546 ORPHA:93360 OMIM:607131 ORPHA:166024 OMIM:620076 OMIM:618019 ORPHA:3206 OMIM:601559 OMIM:600373 OMIM:619451 OMIM:248500 ORPHA:309282 OMIM:618443 OMIM:607078 ORPHA:93311 OMIM:608728 ORPHA:156728 ORPHA:1596 ORPHA:65759 OMIM:249000 ORPHA:1040 ORPHA:2501 OMIM:250400 OMIM:602111 ORPHA:93356 OMIM:613073 ORPHA:3115 OMIM:112250 OMIM:619127 OMIM:618913 OMIM:615415 OMIM:617022 OMIM:618853 ORPHA:97685 ORPHA:363700 OMIM:162200 ORPHA:561 OMIM:613330 ORPHA:955 OMIM:102500 ORPHA:40 OMIM:602875 OMIM:117550 OMIM:309000 ORPHA:534 OMIM:224690 OMIM:613803 OMIM:610915 ORPHA:2050 OMIM:618493 OMIM:612847 OMIM:210720 OMIM:608940 ORPHA:85167 ORPHA:742 OMIM:307800 ORPHA:89936 OMIM:609220 OMIM:616462 OMIM:264090 OMIM:619743 OMIM:201750 ORPHA:95699 OMIM:619142 OMIM:619143 OMIM:619636 OMIM:619638 ORPHA:50945 OMIM:156400 OMIM:156250 ORPHA:488627 OMIM:612940 OMIM:201000 OMIM:615222 ORPHA:3320 OMIM:274000 OMIM:218600 ORPHA:1225 ORPHA:221016 OMIM:263650 ORPHA:175 OMIM:250250 OMIM:250460 OMIM:210710 OMIM:268310 OMIM:611560 OMIM:611561 OMIM:618728 OMIM:618022 ORPHA:457395 OMIM:616723 ORPHA:1452 OMIM:612313 ORPHA:251028 OMIM:600920 OMIM:613848 OMIM:269150 ORPHA:798 OMIM:164210 OMIM:265900 OMIM:126550 OMIM:249420 ORPHA:2632 OMIM:249700 ORPHA:240 OMIM:127300 ORPHA:314795 OMIM:182212 OMIM:618363 ORPHA:56304 ORPHA:628 OMIM:222600 ORPHA:93307 ORPHA:2088 ORPHA:157215 OMIM:241530 ORPHA:1106 OMIM:206920 OMIM:114290 ORPHA:140 OMIM:613849 ORPHA:101000 OMIM:619475 ORPHA:1802 OMIM:614815 ORPHA:2753 OMIM:617952 OMIM:301066 OMIM:131300 ORPHA:1328 OMIM:603194 OMIM:615066 OMIM:602152 OMIM:174810 ORPHA:2801 OMIM:602080 OMIM:239000 OMIM:259710 ORPHA:93357 OMIM:271510 OMIM:200600 ORPHA:166272 OMIM:184260 OMIM:156530 OMIM:168400 OMIM:184095 ORPHA:93314 OMIM:618188 ORPHA:300570 OMIM:619879 OMIM:617974 OMIM:618744 ORPHA:93160 OMIM:277440 ORPHA:193 OMIM:216550 OMIM:619135 OMIM:614091 OMIM:604317 OMIM:228930 ORPHA:2879 OMIM:276820 OMIM:615777 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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