Human Phenotype Ontology

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:0002981	HP:0002981	Abnormality of the calf	0	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type			34
HP:0002981	HP:0002981	Abnormality of the calf	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0002981	HP:0002981	Abnormality of the calf	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0002981	HP:0002981	Abnormality of the calf	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome			72
HP:0002981	HP:0002981	Abnormality of the calf	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			530
HP:0002981	HP:0002981	Abnormality of the calf	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0002981	HP:0002981	Abnormality of the calf	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0002981	HP:0002981	Abnormality of the calf	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0002981	HP:0002981	Abnormality of the calf	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0002981	HP:0002981	Abnormality of the calf	0	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood			126
HP:0002981	HP:0002981	Abnormality of the calf	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0002981	HP:0002981	Abnormality of the calf	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0002981	HP:0002981	Abnormality of the calf	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0002981	HP:0002981	Abnormality of the calf	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0002981	HP:0002981	Abnormality of the calf	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002981	HP:0002981	Abnormality of the calf	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0002981	HP:0002981	Abnormality of the calf	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0002981	HP:0002981	Abnormality of the calf	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0002981	HP:0002981	Abnormality of the calf	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0002981	HP:0002981	Abnormality of the calf	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0002981	HP:0002981	Abnormality of the calf	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0002981	HP:0002981	Abnormality of the calf	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:0002981	HP:0002981	Abnormality of the calf	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0002981	HP:0002981	Abnormality of the calf	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0002981	HP:0002981	Abnormality of the calf	0	BHLHA9 CL E G H	727857	35126	ORPHA:1986	Gollop-Wolfgang complex			4
HP:0002981	HP:0002981	Abnormality of the calf	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome			4
HP:0002981	HP:0002981	Abnormality of the calf	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type			90
HP:0002981	HP:0002981	Abnormality of the calf	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type			90
HP:0002981	HP:0002981	Abnormality of the calf	0	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome			90
HP:0002981	HP:0002981	Abnormality of the calf	0	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type
HP:0002981	HP:0002981	Abnormality of the calf	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0002981	HP:0002981	Abnormality of the calf	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0002981	HP:0002981	Abnormality of the calf	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0002981	HP:0002981	Abnormality of the calf	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0002981	HP:0002981	Abnormality of the calf	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0002981	HP:0002981	Abnormality of the calf	0	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0002981	HP:0002981	Abnormality of the calf	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0002981	HP:0002981	Abnormality of the calf	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0002981	HP:0002981	Abnormality of the calf	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0002981	HP:0002981	Abnormality of the calf	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0002981	HP:0002981	Abnormality of the calf	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0002981	HP:0002981	Abnormality of the calf	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0002981	HP:0002981	Abnormality of the calf	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0002981	HP:0002981	Abnormality of the calf	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0002981	HP:0002981	Abnormality of the calf	0	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma			833
HP:0002981	HP:0002981	Abnormality of the calf	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0002981	HP:0002981	Abnormality of the calf	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:0002981	HP:0002981	Abnormality of the calf	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0002981	HP:0002981	Abnormality of the calf	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0002981	HP:0002981	Abnormality of the calf	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0002981	HP:0002981	Abnormality of the calf	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0002981	HP:0002981	Abnormality of the calf	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0002981	HP:0002981	Abnormality of the calf	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0002981	HP:0002981	Abnormality of the calf	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0002981	HP:0002981	Abnormality of the calf	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0002981	HP:0002981	Abnormality of the calf	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type			79
HP:0002981	HP:0002981	Abnormality of the calf	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0002981	HP:0002981	Abnormality of the calf	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0002981	HP:0002981	Abnormality of the calf	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0002981	HP:0002981	Abnormality of the calf	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0002981	HP:0002981	Abnormality of the calf	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0002981	HP:0002981	Abnormality of the calf	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0002981	HP:0002981	Abnormality of the calf	0	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease			373
HP:0002981	HP:0002981	Abnormality of the calf	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0002981	HP:0002981	Abnormality of the calf	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0002981	HP:0002981	Abnormality of the calf	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0002981	HP:0002981	Abnormality of the calf	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0002981	HP:0002981	Abnormality of the calf	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0002981	HP:0002981	Abnormality of the calf	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0002981	HP:0002981	Abnormality of the calf	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0002981	HP:0002981	Abnormality of the calf	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0002981	HP:0002981	Abnormality of the calf	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis			284
HP:0002981	HP:0002981	Abnormality of the calf	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness			284
HP:0002981	HP:0002981	Abnormality of the calf	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0002981	HP:0002981	Abnormality of the calf	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0002981	HP:0002981	Abnormality of the calf	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0002981	HP:0002981	Abnormality of the calf	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0002981	HP:0002981	Abnormality of the calf	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0002981	HP:0002981	Abnormality of the calf	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type			284
HP:0002981	HP:0002981	Abnormality of the calf	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0002981	HP:0002981	Abnormality of the calf	0	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type			284
HP:0002981	HP:0002981	Abnormality of the calf	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0002981	HP:0002981	Abnormality of the calf	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0002981	HP:0002981	Abnormality of the calf	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0002981	HP:0002981	Abnormality of the calf	0	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0002981	HP:0002981	Abnormality of the calf	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0002981	HP:0002981	Abnormality of the calf	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0002981	HP:0002981	Abnormality of the calf	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0002981	HP:0002981	Abnormality of the calf	0	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0002981	HP:0002981	Abnormality of the calf	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0002981	HP:0002981	Abnormality of the calf	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			137
HP:0002981	HP:0002981	Abnormality of the calf	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0002981	HP:0002981	Abnormality of the calf	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0002981	HP:0002981	Abnormality of the calf	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0002981	HP:0002981	Abnormality of the calf	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0002981	HP:0002981	Abnormality of the calf	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002981	HP:0002981	Abnormality of the calf	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII			124
HP:0002981	HP:0002981	Abnormality of the calf	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0002981	HP:0002981	Abnormality of the calf	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0002981	HP:0002981	Abnormality of the calf	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0002981	HP:0002981	Abnormality of the calf	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0002981	HP:0002981	Abnormality of the calf	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0002981	HP:0002981	Abnormality of the calf	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0002981	HP:0002981	Abnormality of the calf	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0002981	HP:0002981	Abnormality of the calf	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0002981	HP:0002981	Abnormality of the calf	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0002981	HP:0002981	Abnormality of the calf	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0002981	HP:0002981	Abnormality of the calf	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0002981	HP:0002981	Abnormality of the calf	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002981	HP:0002981	Abnormality of the calf	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002981	HP:0002981	Abnormality of the calf	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0002981	HP:0002981	Abnormality of the calf	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002981	HP:0002981	Abnormality of the calf	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0002981	HP:0002981	Abnormality of the calf	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome			9
HP:0002981	HP:0002981	Abnormality of the calf	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0002981	HP:0002981	Abnormality of the calf	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0002981	HP:0002981	Abnormality of the calf	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1			65
HP:0002981	HP:0002981	Abnormality of the calf	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3			304
HP:0002981	HP:0002981	Abnormality of the calf	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0002981	HP:0002981	Abnormality of the calf	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0002981	HP:0002981	Abnormality of the calf	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0002981	HP:0002981	Abnormality of the calf	0	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3			2
HP:0002981	HP:0002981	Abnormality of the calf	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0002981	HP:0002981	Abnormality of the calf	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0002981	HP:0002981	Abnormality of the calf	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0002981	HP:0002981	Abnormality of the calf	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0002981	HP:0002981	Abnormality of the calf	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0002981	HP:0002981	Abnormality of the calf	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2			151
HP:0002981	HP:0002981	Abnormality of the calf	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0002981	HP:0002981	Abnormality of the calf	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0002981	HP:0002981	Abnormality of the calf	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0002981	HP:0002981	Abnormality of the calf	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0002981	HP:0002981	Abnormality of the calf	0	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I			96
HP:0002981	HP:0002981	Abnormality of the calf	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas			96
HP:0002981	HP:0002981	Abnormality of the calf	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0002981	HP:0002981	Abnormality of the calf	0	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II			102
HP:0002981	HP:0002981	Abnormality of the calf	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas			102
HP:0002981	HP:0002981	Abnormality of the calf	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0002981	HP:0002981	Abnormality of the calf	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets			51
HP:0002981	HP:0002981	Abnormality of the calf	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0002981	HP:0002981	Abnormality of the calf	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0002981	HP:0002981	Abnormality of the calf	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome			175
HP:0002981	HP:0002981	Abnormality of the calf	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0002981	HP:0002981	Abnormality of the calf	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0002981	HP:0002981	Abnormality of the calf	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia			145
HP:0002981	HP:0002981	Abnormality of the calf	0	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA			145
HP:0002981	HP:0002981	Abnormality of the calf	0	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome			145
HP:0002981	HP:0002981	Abnormality of the calf	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0002981	HP:0002981	Abnormality of the calf	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0002981	HP:0002981	Abnormality of the calf	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0002981	HP:0002981	Abnormality of the calf	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0002981	HP:0002981	Abnormality of the calf	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0002981	HP:0002981	Abnormality of the calf	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0002981	HP:0002981	Abnormality of the calf	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0002981	HP:0002981	Abnormality of the calf	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0002981	HP:0002981	Abnormality of the calf	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0002981	HP:0002981	Abnormality of the calf	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0002981	HP:0002981	Abnormality of the calf	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0002981	HP:0002981	Abnormality of the calf	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0002981	HP:0002981	Abnormality of the calf	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III			233
HP:0002981	HP:0002981	Abnormality of the calf	0	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia			233
HP:0002981	HP:0002981	Abnormality of the calf	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0002981	HP:0002981	Abnormality of the calf	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0002981	HP:0002981	Abnormality of the calf	0	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type			9
HP:0002981	HP:0002981	Abnormality of the calf	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome			134
HP:0002981	HP:0002981	Abnormality of the calf	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			10
HP:0002981	HP:0002981	Abnormality of the calf	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome			139
HP:0002981	HP:0002981	Abnormality of the calf	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			139
HP:0002981	HP:0002981	Abnormality of the calf	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0002981	HP:0002981	Abnormality of the calf	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0002981	HP:0002981	Abnormality of the calf	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type			52
HP:0002981	HP:0002981	Abnormality of the calf	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0002981	HP:0002981	Abnormality of the calf	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type			52
HP:0002981	HP:0002981	Abnormality of the calf	0	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome			52
HP:0002981	HP:0002981	Abnormality of the calf	0	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly			52
HP:0002981	HP:0002981	Abnormality of the calf	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0002981	HP:0002981	Abnormality of the calf	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0002981	HP:0002981	Abnormality of the calf	0	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8			1
HP:0002981	HP:0002981	Abnormality of the calf	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0002981	HP:0002981	Abnormality of the calf	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma			57
HP:0002981	HP:0002981	Abnormality of the calf	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0002981	HP:0002981	Abnormality of the calf	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0002981	HP:0002981	Abnormality of the calf	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0002981	HP:0002981	Abnormality of the calf	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0002981	HP:0002981	Abnormality of the calf	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0002981	HP:0002981	Abnormality of the calf	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0002981	HP:0002981	Abnormality of the calf	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0002981	HP:0002981	Abnormality of the calf	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002981	HP:0002981	Abnormality of the calf	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0002981	HP:0002981	Abnormality of the calf	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0002981	HP:0002981	Abnormality of the calf	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0002981	HP:0002981	Abnormality of the calf	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			54
HP:0002981	HP:0002981	Abnormality of the calf	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0002981	HP:0002981	Abnormality of the calf	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0002981	HP:0002981	Abnormality of the calf	0	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy			55
HP:0002981	HP:0002981	Abnormality of the calf	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0002981	HP:0002981	Abnormality of the calf	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0002981	HP:0002981	Abnormality of the calf	0	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia			8
HP:0002981	HP:0002981	Abnormality of the calf	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0002981	HP:0002981	Abnormality of the calf	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0002981	HP:0002981	Abnormality of the calf	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0002981	HP:0002981	Abnormality of the calf	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0002981	HP:0002981	Abnormality of the calf	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0002981	HP:0002981	Abnormality of the calf	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0002981	HP:0002981	Abnormality of the calf	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0002981	HP:0002981	Abnormality of the calf	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome			115
HP:0002981	HP:0002981	Abnormality of the calf	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0002981	HP:0002981	Abnormality of the calf	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0002981	HP:0002981	Abnormality of the calf	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0002981	HP:0002981	Abnormality of the calf	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0002981	HP:0002981	Abnormality of the calf	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0002981	HP:0002981	Abnormality of the calf	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia			44
HP:0002981	HP:0002981	Abnormality of the calf	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0002981	HP:0002981	Abnormality of the calf	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002981	HP:0002981	Abnormality of the calf	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0002981	HP:0002981	Abnormality of the calf	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0002981	HP:0002981	Abnormality of the calf	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2			14
HP:0002981	HP:0002981	Abnormality of the calf	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0002981	HP:0002981	Abnormality of the calf	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0002981	HP:0002981	Abnormality of the calf	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type			167
HP:0002981	HP:0002981	Abnormality of the calf	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0002981	HP:0002981	Abnormality of the calf	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0002981	HP:0002981	Abnormality of the calf	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0002981	HP:0002981	Abnormality of the calf	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0002981	HP:0002981	Abnormality of the calf	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0002981	HP:0002981	Abnormality of the calf	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0002981	HP:0002981	Abnormality of the calf	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia			106
HP:0002981	HP:0002981	Abnormality of the calf	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP			106
HP:0002981	HP:0002981	Abnormality of the calf	0	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome			106
HP:0002981	HP:0002981	Abnormality of the calf	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome			106
HP:0002981	HP:0002981	Abnormality of the calf	0	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4			106
HP:0002981	HP:0002981	Abnormality of the calf	0	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly			106
HP:0002981	HP:0002981	Abnormality of the calf	0	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome			106
HP:0002981	HP:0002981	Abnormality of the calf	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0002981	HP:0002981	Abnormality of the calf	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0002981	HP:0002981	Abnormality of the calf	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0002981	HP:0002981	Abnormality of the calf	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0002981	HP:0002981	Abnormality of the calf	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0002981	HP:0002981	Abnormality of the calf	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0002981	HP:0002981	Abnormality of the calf	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0002981	HP:0002981	Abnormality of the calf	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0002981	HP:0002981	Abnormality of the calf	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0002981	HP:0002981	Abnormality of the calf	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0002981	HP:0002981	Abnormality of the calf	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0002981	HP:0002981	Abnormality of the calf	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0002981	HP:0002981	Abnormality of the calf	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0002981	HP:0002981	Abnormality of the calf	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related			32
HP:0002981	HP:0002981	Abnormality of the calf	0	MATN3 CL E G H	4148	6909	ORPHA:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type			32
HP:0002981	HP:0002981	Abnormality of the calf	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0002981	HP:0002981	Abnormality of the calf	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002981	HP:0002981	Abnormality of the calf	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0002981	HP:0002981	Abnormality of the calf	0	MET CL E G H	4233	7029	OMIM:607278	Osteofibrous dysplasia, susceptibility to			375
HP:0002981	HP:0002981	Abnormality of the calf	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0002981	HP:0002981	Abnormality of the calf	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0002981	HP:0002981	Abnormality of the calf	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0002981	HP:0002981	Abnormality of the calf	0	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type			52
HP:0002981	HP:0002981	Abnormality of the calf	0	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type			52
HP:0002981	HP:0002981	Abnormality of the calf	0	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0002981	HP:0002981	Abnormality of the calf	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0002981	HP:0002981	Abnormality of the calf	0	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2			31
HP:0002981	HP:0002981	Abnormality of the calf	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome			134
HP:0002981	HP:0002981	Abnormality of the calf	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0002981	HP:0002981	Abnormality of the calf	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002981	HP:0002981	Abnormality of the calf	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0002981	HP:0002981	Abnormality of the calf	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0002981	HP:0002981	Abnormality of the calf	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0002981	HP:0002981	Abnormality of the calf	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0002981	HP:0002981	Abnormality of the calf	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0002981	HP:0002981	Abnormality of the calf	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0002981	HP:0002981	Abnormality of the calf	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0002981	HP:0002981	Abnormality of the calf	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0002981	HP:0002981	Abnormality of the calf	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002981	HP:0002981	Abnormality of the calf	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0002981	HP:0002981	Abnormality of the calf	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0002981	HP:0002981	Abnormality of the calf	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0002981	HP:0002981	Abnormality of the calf	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0002981	HP:0002981	Abnormality of the calf	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0002981	HP:0002981	Abnormality of the calf	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0002981	HP:0002981	Abnormality of the calf	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0002981	HP:0002981	Abnormality of the calf	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0002981	HP:0002981	Abnormality of the calf	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0002981	HP:0002981	Abnormality of the calf	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0002981	HP:0002981	Abnormality of the calf	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0002981	HP:0002981	Abnormality of the calf	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0002981	HP:0002981	Abnormality of the calf	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002981	HP:0002981	Abnormality of the calf	0	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0002981	HP:0002981	Abnormality of the calf	0	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes			20
HP:0002981	HP:0002981	Abnormality of the calf	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome			225
HP:0002981	HP:0002981	Abnormality of the calf	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0002981	HP:0002981	Abnormality of the calf	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0002981	HP:0002981	Abnormality of the calf	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0002981	HP:0002981	Abnormality of the calf	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0002981	HP:0002981	Abnormality of the calf	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0002981	HP:0002981	Abnormality of the calf	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0002981	HP:0002981	Abnormality of the calf	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF			8
HP:0002981	HP:0002981	Abnormality of the calf	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0002981	HP:0002981	Abnormality of the calf	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome			79
HP:0002981	HP:0002981	Abnormality of the calf	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type			8
HP:0002981	HP:0002981	Abnormality of the calf	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0002981	HP:0002981	Abnormality of the calf	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0002981	HP:0002981	Abnormality of the calf	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0002981	HP:0002981	Abnormality of the calf	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0002981	HP:0002981	Abnormality of the calf	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0002981	HP:0002981	Abnormality of the calf	0	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1			2
HP:0002981	HP:0002981	Abnormality of the calf	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0002981	HP:0002981	Abnormality of the calf	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0002981	HP:0002981	Abnormality of the calf	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0002981	HP:0002981	Abnormality of the calf	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0002981	HP:0002981	Abnormality of the calf	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0002981	HP:0002981	Abnormality of the calf	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0002981	HP:0002981	Abnormality of the calf	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome			58
HP:0002981	HP:0002981	Abnormality of the calf	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0002981	HP:0002981	Abnormality of the calf	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0002981	HP:0002981	Abnormality of the calf	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0002981	HP:0002981	Abnormality of the calf	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0002981	HP:0002981	Abnormality of the calf	0	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2			53
HP:0002981	HP:0002981	Abnormality of the calf	0	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma			365
HP:0002981	HP:0002981	Abnormality of the calf	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002981	HP:0002981	Abnormality of the calf	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0002981	HP:0002981	Abnormality of the calf	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0002981	HP:0002981	Abnormality of the calf	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0002981	HP:0002981	Abnormality of the calf	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0002981	HP:0002981	Abnormality of the calf	0	RMRP CL E G H	6023	10031	OMIM:250460	Metaphyseal dysplasia without hypotrichosis			37
HP:0002981	HP:0002981	Abnormality of the calf	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0002981	HP:0002981	Abnormality of the calf	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0002981	HP:0002981	Abnormality of the calf	0	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0002981	HP:0002981	Abnormality of the calf	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0002981	HP:0002981	Abnormality of the calf	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0002981	HP:0002981	Abnormality of the calf	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002981	HP:0002981	Abnormality of the calf	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0002981	HP:0002981	Abnormality of the calf	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0002981	HP:0002981	Abnormality of the calf	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0002981	HP:0002981	Abnormality of the calf	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0002981	HP:0002981	Abnormality of the calf	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome			1053
HP:0002981	HP:0002981	Abnormality of the calf	0	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			1053
HP:0002981	HP:0002981	Abnormality of the calf	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome			126
HP:0002981	HP:0002981	Abnormality of the calf	0	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			126
HP:0002981	HP:0002981	Abnormality of the calf	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome			427
HP:0002981	HP:0002981	Abnormality of the calf	0	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			427
HP:0002981	HP:0002981	Abnormality of the calf	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome			318
HP:0002981	HP:0002981	Abnormality of the calf	0	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			318
HP:0002981	HP:0002981	Abnormality of the calf	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0002981	HP:0002981	Abnormality of the calf	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0002981	HP:0002981	Abnormality of the calf	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0002981	HP:0002981	Abnormality of the calf	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0002981	HP:0002981	Abnormality of the calf	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0002981	HP:0002981	Abnormality of the calf	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type			49
HP:0002981	HP:0002981	Abnormality of the calf	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease			3
HP:0002981	HP:0002981	Abnormality of the calf	0	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0002981	HP:0002981	Abnormality of the calf	0	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4			67
HP:0002981	HP:0002981	Abnormality of the calf	0	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome			67
HP:0002981	HP:0002981	Abnormality of the calf	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia			66
HP:0002981	HP:0002981	Abnormality of the calf	0	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia			66
HP:0002981	HP:0002981	Abnormality of the calf	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0002981	HP:0002981	Abnormality of the calf	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0002981	HP:0002981	Abnormality of the calf	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature			66
HP:0002981	HP:0002981	Abnormality of the calf	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0002981	HP:0002981	Abnormality of the calf	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0002981	HP:0002981	Abnormality of the calf	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0002981	HP:0002981	Abnormality of the calf	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0002981	HP:0002981	Abnormality of the calf	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0002981	HP:0002981	Abnormality of the calf	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0002981	HP:0002981	Abnormality of the calf	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002981	HP:0002981	Abnormality of the calf	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			47
HP:0002981	HP:0002981	Abnormality of the calf	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			52
HP:0002981	HP:0002981	Abnormality of the calf	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0002981	HP:0002981	Abnormality of the calf	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0002981	HP:0002981	Abnormality of the calf	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0002981	HP:0002981	Abnormality of the calf	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0002981	HP:0002981	Abnormality of the calf	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0002981	HP:0002981	Abnormality of the calf	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0002981	HP:0002981	Abnormality of the calf	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0002981	HP:0002981	Abnormality of the calf	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002981	HP:0002981	Abnormality of the calf	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0002981	HP:0002981	Abnormality of the calf	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0002981	HP:0002981	Abnormality of the calf	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002981	HP:0002981	Abnormality of the calf	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			9
HP:0002981	HP:0002981	Abnormality of the calf	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0002981	HP:0002981	Abnormality of the calf	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0002981	HP:0002981	Abnormality of the calf	0	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia			16
HP:0002981	HP:0002981	Abnormality of the calf	0	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV			31
HP:0002981	HP:0002981	Abnormality of the calf	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0002981	HP:0002981	Abnormality of the calf	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0002981	HP:0002981	Abnormality of the calf	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002981	HP:0002981	Abnormality of the calf	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0002981	HP:0002981	Abnormality of the calf	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0002981	HP:0002981	Abnormality of the calf	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0002981	HP:0002981	Abnormality of the calf	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0002981	HP:0002981	Abnormality of the calf	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0002981	HP:0002981	Abnormality of the calf	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0002981	HP:0002981	Abnormality of the calf	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0002981	HP:0002981	Abnormality of the calf	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0002981	HP:0002981	Abnormality of the calf	0	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma			911
HP:0002981	HP:0002981	Abnormality of the calf	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0002981	HP:0002981	Abnormality of the calf	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0002981	HP:0002981	Abnormality of the calf	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0002981	HP:0002981	Abnormality of the calf	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0002981	HP:0002981	Abnormality of the calf	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0002981	HP:0002981	Abnormality of the calf	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0002981	HP:0002981	Abnormality of the calf	0	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism			214
HP:0002981	HP:0002981	Abnormality of the calf	0	TRPV4 CL E G H	59341	18083	OMIM:184095	Spondyloepiphyseal dysplasia, Maroteaux type			214
HP:0002981	HP:0002981	Abnormality of the calf	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0002981	HP:0002981	Abnormality of the calf	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0002981	HP:0002981	Abnormality of the calf	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0002981	HP:0002981	Abnormality of the calf	0	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0002981	HP:0002981	Abnormality of the calf	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002981	HP:0002981	Abnormality of the calf	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0002981	HP:0002981	Abnormality of the calf	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0002981	HP:0002981	Abnormality of the calf	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0002981	HP:0002981	Abnormality of the calf	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0002981	HP:0002981	Abnormality of the calf	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0002981	HP:0002981	Abnormality of the calf	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0002981	HP:0002981	Abnormality of the calf	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0002981	HP:0002981	Abnormality of the calf	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0002981	HP:0002981	Abnormality of the calf	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0002981	HP:0002981	Abnormality of the calf	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0002981	HP:0002981	Abnormality of the calf	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0002981	HP:0002981	Abnormality of the calf	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0002981	HP:0002981	Abnormality of the calf	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0002981	HP:0002981	Abnormality of the calf	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002981	HP:0002981	Abnormality of the calf	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0002981	HP:0002981	Abnormality of the calf	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0002981	HP:0002979	Bowing of the legs	1	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type			34
HP:0002981	HP:0002979	Bowing of the legs	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional		16
HP:0002981	HP:0002979	Bowing of the legs	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040283 - Occasional		72
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			530
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0002981	HP:0002979	Bowing of the legs	1	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood	.		126
HP:0002981	HP:0002979	Bowing of the legs	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0002981	HP:0002979	Bowing of the legs	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002981	HP:0002979	Bowing of the legs	1	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0002981	HP:0002979	Bowing of the legs	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0002981	HP:0002979	Bowing of the legs	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0002981	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:0002981	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:0002981	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:0002981	HP:0002979	Bowing of the legs	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0002981	HP:0002979	Bowing of the legs	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0002981	HP:0002979	Bowing of the legs	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	BHLHA9 CL E G H	727857	35126	ORPHA:1986	Gollop-Wolfgang complex			4
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome			4
HP:0002981	HP:0002979	Bowing of the legs	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome			4
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional		4
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type			90
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type			90
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type			90
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome			90
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent		90
HP:0002981	HP:0002979	Bowing of the legs	1	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type
HP:0002981	HP:0002979	Bowing of the legs	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0002981	HP:0002979	Bowing of the legs	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0002981	HP:0002979	Bowing of the legs	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0002981	HP:0002979	Bowing of the legs	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0002981	HP:0002979	Bowing of the legs	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0002981	HP:0002979	Bowing of the legs	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0002981	HP:0002979	Bowing of the legs	1	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0002981	HP:0002979	Bowing of the legs	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0002981	HP:0002979	Bowing of the legs	1	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0002981	HP:0002979	Bowing of the legs	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0002981	HP:0002979	Bowing of the legs	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		515
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma			833
HP:0002981	HP:0002979	Bowing of the legs	1	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0002981	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:0002981	HP:0002992	Abnormality of tibia morphology	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0002981	HP:0002979	Bowing of the legs	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0002981	HP:0002979	Bowing of the legs	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0002981	HP:0002979	Bowing of the legs	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0002981	HP:0002979	Bowing of the legs	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0002981	HP:0002979	Bowing of the legs	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0002981	HP:0002979	Bowing of the legs	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0002981	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:0002981	HP:0002992	Abnormality of tibia morphology	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0002981	HP:0002979	Bowing of the legs	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type			79
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type			79
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0002981	HP:0002979	Bowing of the legs	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0002981	HP:0002979	Bowing of the legs	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease			373
HP:0002981	HP:0002979	Bowing of the legs	1	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease	.	HP:0003577 - Congenital onset	373
HP:0002981	HP:0002979	Bowing of the legs	1	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0002981	HP:0002979	Bowing of the legs	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0002981	HP:0002979	Bowing of the legs	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0002981	HP:0002979	Bowing of the legs	1	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0002981	HP:0002979	Bowing of the legs	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0002981	HP:0002979	Bowing of the legs	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0002981	HP:0002979	Bowing of the legs	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0002981	HP:0002979	Bowing of the legs	1	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0002981	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis			284
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040282 - Frequent		284
HP:0002981	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:0002981	HP:0002992	Abnormality of tibia morphology	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0002981	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0002981	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0002981	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0002981	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0002981	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type			284
HP:0002981	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0002981	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type			284
HP:0002981	HP:0002979	Bowing of the legs	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0002981	HP:0002979	Bowing of the legs	1	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0002981	HP:0002979	Bowing of the legs	1	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0002981	HP:0002979	Bowing of the legs	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0002981	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:0002981	HP:0002992	Abnormality of tibia morphology	1	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0002981	HP:0002979	Bowing of the legs	1	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0002981	HP:0002979	Bowing of the legs	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0002981	HP:0002979	Bowing of the legs	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0002981	HP:0002979	Bowing of the legs	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0002981	HP:0002979	Bowing of the legs	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002981	HP:0002979	Bowing of the legs	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.		124
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0002981	HP:0002979	Bowing of the legs	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0002981	HP:0002979	Bowing of the legs	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0002981	HP:0002979	Bowing of the legs	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0002981	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:0002981	HP:0002992	Abnormality of tibia morphology	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0002981	HP:0002979	Bowing of the legs	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0002981	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:0002981	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:0002981	HP:0002991	Abnormality of fibula morphology	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0002981	HP:0002979	Bowing of the legs	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0002981	HP:0002979	Bowing of the legs	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0002981	HP:0002979	Bowing of the legs	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0002981	HP:0002979	Bowing of the legs	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome			9
HP:0002981	HP:0002979	Bowing of the legs	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0002981	HP:0002979	Bowing of the legs	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0002981	HP:0002979	Bowing of the legs	1	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1			65
HP:0002981	HP:0002979	Bowing of the legs	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3			304
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3			304
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3			304
HP:0002981	HP:0002979	Bowing of the legs	1	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0002981	HP:0002979	Bowing of the legs	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0002981	HP:0002979	Bowing of the legs	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0002981	HP:0002979	Bowing of the legs	1	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3	.		2
HP:0002981	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:0002981	HP:0002991	Abnormality of fibula morphology	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0002981	HP:0002979	Bowing of the legs	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0002981	HP:0002979	Bowing of the legs	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0002981	HP:0002979	Bowing of the legs	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0002981	HP:0002979	Bowing of the legs	1	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2			151
HP:0002981	HP:0002979	Bowing of the legs	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0002981	HP:0002979	Bowing of the legs	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0002981	HP:0002979	Bowing of the legs	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0002981	HP:0002979	Bowing of the legs	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0002981	HP:0002979	Bowing of the legs	1	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I			96
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		96
HP:0002981	HP:0002979	Bowing of the legs	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas			96
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		96
HP:0002981	HP:0002979	Bowing of the legs	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0002981	HP:0002979	Bowing of the legs	1	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II			102
HP:0002981	HP:0002979	Bowing of the legs	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas			102
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		102
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		102
HP:0002981	HP:0002979	Bowing of the legs	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0002981	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:0002981	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:0002981	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:0002981	HP:0002991	Abnormality of fibula morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040283 - Occasional		175
HP:0002981	HP:0002979	Bowing of the legs	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.		145
HP:0002981	HP:0002979	Bowing of the legs	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040281 - Very frequent		145
HP:0002981	HP:0002979	Bowing of the legs	1	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia			145
HP:0002981	HP:0002979	Bowing of the legs	1	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA			145
HP:0002981	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:0002981	HP:0002991	Abnormality of fibula morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome			145
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome			145
HP:0002981	HP:0002979	Bowing of the legs	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0002981	HP:0002979	Bowing of the legs	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0002981	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:0002981	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:0002981	HP:0002979	Bowing of the legs	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0002981	HP:0002979	Bowing of the legs	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0002981	HP:0002979	Bowing of the legs	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0002981	HP:0002979	Bowing of the legs	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0002981	HP:0002979	Bowing of the legs	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040282 - Frequent		233
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0002981	HP:0002979	Bowing of the legs	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0002981	HP:0002979	Bowing of the legs	1	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III			233
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III			233
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia			233
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040281 - Very frequent		233
HP:0002981	HP:0002979	Bowing of the legs	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0002981	HP:0002979	Bowing of the legs	1	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type			9
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome			134
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			10
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome			139
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			139
HP:0002981	HP:0002979	Bowing of the legs	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0002981	HP:0002979	Bowing of the legs	1	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type			52
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type			52
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0002981	HP:0002979	Bowing of the legs	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type			52
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type			52
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent		52
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome			52
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly			52
HP:0002981	HP:0002979	Bowing of the legs	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0002981	HP:0002979	Bowing of the legs	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0002981	HP:0002979	Bowing of the legs	1	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8			1
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0002981	HP:0002979	Bowing of the legs	1	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma			57
HP:0002981	HP:0002979	Bowing of the legs	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0002981	HP:0002979	Bowing of the legs	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0002981	HP:0002979	Bowing of the legs	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0002981	HP:0002979	Bowing of the legs	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0002981	HP:0002979	Bowing of the legs	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0002981	HP:0002979	Bowing of the legs	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			54
HP:0002981	HP:0002979	Bowing of the legs	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0002981	HP:0002979	Bowing of the legs	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy	HP:0040282 - Frequent		55
HP:0002981	HP:0002979	Bowing of the legs	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0002981	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:0002981	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:0002981	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:0002981	HP:0002979	Bowing of the legs	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0002981	HP:0002979	Bowing of the legs	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0002981	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:0002981	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:0002981	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:0002981	HP:0002979	Bowing of the legs	1	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome			115
HP:0002981	HP:0002979	Bowing of the legs	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0002981	HP:0002979	Bowing of the legs	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0002981	HP:0002979	Bowing of the legs	1	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia			44
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002981	HP:0002979	Bowing of the legs	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002981	HP:0002979	Bowing of the legs	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002979	Bowing of the legs	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0002981	HP:0002979	Bowing of the legs	1	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0002981	HP:0002979	Bowing of the legs	1	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0002981	HP:0002979	Bowing of the legs	1	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type			167
HP:0002981	HP:0002979	Bowing of the legs	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0002981	HP:0002979	Bowing of the legs	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0002981	HP:0002979	Bowing of the legs	1	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0002981	HP:0002979	Bowing of the legs	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0002981	HP:0002979	Bowing of the legs	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia			106
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP			106
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP			106
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome			106
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome			106
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome			106
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome			106
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4			106
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly			106
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly			106
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040281 - Very frequent		106
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome			106
HP:0002981	HP:0002979	Bowing of the legs	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0002981	HP:0002979	Bowing of the legs	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0002981	HP:0002979	Bowing of the legs	1	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0002981	HP:0002979	Bowing of the legs	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0002981	HP:0002979	Bowing of the legs	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0002981	HP:0002979	Bowing of the legs	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0002981	HP:0002979	Bowing of the legs	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0002981	HP:0002979	Bowing of the legs	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0002981	HP:0002979	Bowing of the legs	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0002981	HP:0002979	Bowing of the legs	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0002981	HP:0002979	Bowing of the legs	1	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related	.		32
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0002981	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:0002981	HP:0002992	Abnormality of tibia morphology	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002981	HP:0002979	Bowing of the legs	1	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	MET CL E G H	4233	7029	OMIM:607278	Osteofibrous dysplasia, susceptibility to			375
HP:0002981	HP:0002979	Bowing of the legs	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0002981	HP:0002979	Bowing of the legs	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0002981	HP:0002979	Bowing of the legs	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002979	Bowing of the legs	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0002981	HP:0002979	Bowing of the legs	1	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type			52
HP:0002981	HP:0002979	Bowing of the legs	1	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type			52
HP:0002981	HP:0002979	Bowing of the legs	1	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0002981	HP:0002979	Bowing of the legs	1	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0002981	HP:0002979	Bowing of the legs	1	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2			31
HP:0002981	HP:0002979	Bowing of the legs	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome			134
HP:0002981	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:0002981	HP:0002991	Abnormality of fibula morphology	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002981	HP:0002979	Bowing of the legs	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0002981	HP:0002979	Bowing of the legs	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0002981	HP:0002979	Bowing of the legs	1	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0002981	HP:0002979	Bowing of the legs	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0002981	HP:0002979	Bowing of the legs	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0002981	HP:0002979	Bowing of the legs	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0002981	HP:0002979	Bowing of the legs	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002981	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:0002981	HP:0002992	Abnormality of tibia morphology	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040284 - Very rare		1952
HP:0002981	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:0002981	HP:0002992	Abnormality of tibia morphology	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0002981	HP:0002979	Bowing of the legs	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0002981	HP:0002979	Bowing of the legs	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0002981	HP:0002979	Bowing of the legs	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0002981	HP:0002979	Bowing of the legs	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0002981	HP:0002979	Bowing of the legs	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0002981	HP:0002979	Bowing of the legs	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0002981	HP:0002979	Bowing of the legs	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0002981	HP:0002979	Bowing of the legs	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0002981	HP:0002979	Bowing of the legs	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0002981	HP:0002979	Bowing of the legs	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0002981	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:0002981	HP:0002991	Abnormality of fibula morphology	1	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0002981	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:0002981	HP:0002992	Abnormality of tibia morphology	1	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome			225
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0002981	HP:0002979	Bowing of the legs	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0002981	HP:0002979	Bowing of the legs	1	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0002981	HP:0002979	Bowing of the legs	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0002981	HP:0002979	Bowing of the legs	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF			8
HP:0002981	HP:0002979	Bowing of the legs	1	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0002981	HP:0002979	Bowing of the legs	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome			79
HP:0002981	HP:0002979	Bowing of the legs	1	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type			8
HP:0002981	HP:0002979	Bowing of the legs	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0002981	HP:0002979	Bowing of the legs	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0002981	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:0002981	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:0002981	HP:0002992	Abnormality of tibia morphology	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0002981	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:0002981	HP:0002991	Abnormality of fibula morphology	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0002981	HP:0002979	Bowing of the legs	1	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1			2
HP:0002981	HP:0002979	Bowing of the legs	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0002981	HP:0002979	Bowing of the legs	1	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0002981	HP:0002979	Bowing of the legs	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0002981	HP:0002979	Bowing of the legs	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0002981	HP:0002979	Bowing of the legs	1	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome			58
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002979	Bowing of the legs	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002979	Bowing of the legs	1	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0002981	HP:0002979	Bowing of the legs	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0002981	HP:0002979	Bowing of the legs	1	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2			53
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma			365
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002981	HP:0002979	Bowing of the legs	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0002981	HP:0002979	Bowing of the legs	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002981	HP:0002979	Bowing of the legs	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0002981	HP:0002979	Bowing of the legs	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0002981	HP:0002979	Bowing of the legs	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0002981	HP:0002979	Bowing of the legs	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0002981	HP:0002979	Bowing of the legs	1	RMRP CL E G H	6023	10031	OMIM:250460	Metaphyseal dysplasia without hypotrichosis			37
HP:0002981	HP:0002979	Bowing of the legs	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0002981	HP:0002979	Bowing of the legs	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0002981	HP:0002979	Bowing of the legs	1	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0002981	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:0002981	HP:0002992	Abnormality of tibia morphology	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002981	HP:0002979	Bowing of the legs	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0002981	HP:0002979	Bowing of the legs	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome			1053
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			1053
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome			126
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			126
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome			427
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			427
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome			318
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			318
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		16
HP:0002981	HP:0002979	Bowing of the legs	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0002981	HP:0002979	Bowing of the legs	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0002981	HP:0002979	Bowing of the legs	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0002981	HP:0002979	Bowing of the legs	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type			49
HP:0002981	HP:0002979	Bowing of the legs	1	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease			3
HP:0002981	HP:0002979	Bowing of the legs	1	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4			67
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome			67
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040281 - Very frequent		67
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia			66
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia			66
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia			66
HP:0002981	HP:0002979	Bowing of the legs	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent		66
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0002981	HP:0002979	Bowing of the legs	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature			66
HP:0002981	HP:0002979	Bowing of the legs	1	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature			66
HP:0002981	HP:0002979	Bowing of the legs	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0002981	HP:0002979	Bowing of the legs	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0002981	HP:0002979	Bowing of the legs	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0002981	HP:0002979	Bowing of the legs	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002981	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:0002981	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:0002981	HP:0002992	Abnormality of tibia morphology	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0002981	HP:0002979	Bowing of the legs	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0002981	HP:0002979	Bowing of the legs	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0002981	HP:0002979	Bowing of the legs	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0002981	HP:0002979	Bowing of the legs	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0002981	HP:0002979	Bowing of the legs	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002979	Bowing of the legs	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002981	HP:0002979	Bowing of the legs	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0002981	HP:0002979	Bowing of the legs	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0002981	HP:0002979	Bowing of the legs	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0002981	HP:0002979	Bowing of the legs	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			9
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0002981	HP:0002979	Bowing of the legs	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia	HP:0040281 - Very frequent		16
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV			31
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0002981	HP:0002979	Bowing of the legs	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0002981	HP:0002979	Bowing of the legs	1	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0002981	HP:0002979	Bowing of the legs	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040282 - Frequent		13
HP:0002981	HP:0002979	Bowing of the legs	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0002981	HP:0002979	Bowing of the legs	1	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0002981	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:0002981	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:0002981	HP:0002979	Bowing of the legs	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0002981	HP:0002979	Bowing of the legs	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0002981	HP:0002979	Bowing of the legs	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma			911
HP:0002981	HP:0002979	Bowing of the legs	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0002981	HP:0002979	Bowing of the legs	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0002981	HP:0002979	Bowing of the legs	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0002981	HP:0002979	Bowing of the legs	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0002981	HP:0002979	Bowing of the legs	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0002981	HP:0002979	Bowing of the legs	1	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism			214
HP:0002981	HP:0002979	Bowing of the legs	1	TRPV4 CL E G H	59341	18083	OMIM:184095	Spondyloepiphyseal dysplasia, Maroteaux type			214
HP:0002981	HP:0002979	Bowing of the legs	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0002981	HP:0002979	Bowing of the legs	1	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0002981	HP:0002979	Bowing of the legs	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002981	HP:0002979	Bowing of the legs	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0002981	HP:0002979	Bowing of the legs	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0002981	HP:0002979	Bowing of the legs	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0002981	HP:0002979	Bowing of the legs	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0002981	HP:0002979	Bowing of the legs	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0002981	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:0002981	HP:0002991	Abnormality of fibula morphology	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0002981	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:0002981	HP:0002991	Abnormality of fibula morphology	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0002981	HP:0002992	Abnormality of tibia morphology	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent		13
HP:0002981	HP:0002991	Abnormality of fibula morphology	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0002981	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:0002981	HP:0002979	Bowing of the legs	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0002981	HP:0002979	Bowing of the legs	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0002981	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:0002981	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:0002981	HP:0002979	Bowing of the legs	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002981	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:0002981	HP:0002992	Abnormality of tibia morphology	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0002981	HP:0031173	Tibial spur	2	CL E G H
HP:0002981	HP:0030045	Serpentine fibula	2	CL E G H
HP:0002981	HP:0100535	Tibiofibular diastasis	2	CL E G H
HP:0002981	HP:0010890	Morbus Osgood-Schlatter	2	CL E G H
HP:0002981	HP:0041222	Fractured fibula	2	CL E G H
HP:0002981	HP:0041143	Fractured tibia	2	CL E G H
HP:0002981	HP:0010504	Increased length of the tibia	2	CL E G H
HP:0002981	HP:0002970	Genu varum	2	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type	.		34
HP:0002981	HP:0002857	Genu valgum	2	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type	.		34
HP:0002981	HP:0002970	Genu varum	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0002981	HP:0002857	Genu valgum	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0002981	HP:0100694	Tibial torsion	2	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		530
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0002981	HP:0006491	Abnormal tibial metaphysis morphology	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0002981	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:0002981	HP:0002857	Genu valgum	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.		120
HP:0002981	HP:0002857	Genu valgum	2	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0002981	HP:0002857	Genu valgum	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.		192
HP:0002981	HP:0002857	Genu valgum	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0002981	HP:0002857	Genu valgum	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0002981	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:0002981	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:0002981	HP:0002857	Genu valgum	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002981	HP:0002857	Genu valgum	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002981	HP:0002857	Genu valgum	2	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional		101
HP:0002981	HP:0003085	Long fibula	2	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.		7
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	BHLHA9 CL E G H	727857	35126	ORPHA:1986	Gollop-Wolfgang complex	HP:0040281 - Very frequent		4
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome			4
HP:0002981	HP:0002980	Femoral bowing	2	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional		4
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040282 - Frequent		4
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type			90
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type			90
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type			90
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent		90
HP:0002981	HP:0002857	Genu valgum	2	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type	.
HP:0002981	HP:0002857	Genu valgum	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		276
HP:0002981	HP:0002857	Genu valgum	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0002981	HP:0002857	Genu valgum	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002981	HP:0002970	Genu varum	2	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040282 - Frequent		13
HP:0002981	HP:0002857	Genu valgum	2	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0002981	HP:0002970	Genu varum	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.		85
HP:0002981	HP:0003099	Fibular overgrowth	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0002981	HP:0002970	Genu varum	2	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0002981	HP:0002857	Genu valgum	2	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent		242
HP:0002981	HP:0002970	Genu varum	2	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0002981	HP:0002970	Genu varum	2	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0002981	HP:0002857	Genu valgum	2	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0002981	HP:0002857	Genu valgum	2	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0002981	HP:0002970	Genu varum	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0002981	HP:0002857	Genu valgum	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0002981	HP:0006491	Abnormal tibial metaphysis morphology	2	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent		833
HP:0002981	HP:0002857	Genu valgum	2	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent		165
HP:0002981	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:0002981	HP:0002857	Genu valgum	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0002981	HP:0002982	Tibial bowing	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0002981	HP:0010502	Fibular bowing	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0002981	HP:0002982	Tibial bowing	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0002981	HP:0002982	Tibial bowing	2	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0002981	HP:0010502	Fibular bowing	2	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0002981	HP:0002980	Femoral bowing	2	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0002981	HP:0002980	Femoral bowing	2	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0002981	HP:0010502	Fibular bowing	2	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0002981	HP:0002982	Tibial bowing	2	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0002981	HP:0002857	Genu valgum	2	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040282 - Frequent		102
HP:0002981	HP:0002857	Genu valgum	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002981	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:0002981	HP:0002857	Genu valgum	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0002981	HP:0002970	Genu varum	2	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent		79
HP:0002981	HP:0002980	Femoral bowing	2	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent		79
HP:0002981	HP:0002857	Genu valgum	2	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type			79
HP:0002981	HP:0002982	Tibial bowing	2	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type			79
HP:0002981	HP:0002980	Femoral bowing	2	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.		79
HP:0002981	HP:0002970	Genu varum	2	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.		79
HP:0002981	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:0002981	HP:0002857	Genu valgum	2	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		215
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0002981	HP:0006508	Abnormality of tibial epiphyses	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0002981	HP:0002857	Genu valgum	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent		215
HP:0002981	HP:0002982	Tibial bowing	2	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional		222
HP:0002981	HP:0010502	Fibular bowing	2	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional		222
HP:0002981	HP:0002982	Tibial bowing	2	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease	.		373
HP:0002981	HP:0002980	Femoral bowing	2	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.		373
HP:0002981	HP:0002982	Tibial bowing	2	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.		373
HP:0002981	HP:0002982	Tibial bowing	2	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.		373
HP:0002981	HP:0002980	Femoral bowing	2	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0002981	HP:0002857	Genu valgum	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent		243
HP:0002981	HP:0002982	Tibial bowing	2	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.		243
HP:0002981	HP:0002982	Tibial bowing	2	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.		243
HP:0002981	HP:0002980	Femoral bowing	2	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0002981	HP:0002857	Genu valgum	2	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040282 - Frequent		284
HP:0002981	HP:0002857	Genu valgum	2	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.		284
HP:0002981	HP:0002970	Genu varum	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0002981	HP:0002982	Tibial bowing	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0002981	HP:0002857	Genu valgum	2	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent		284
HP:0002981	HP:0006508	Abnormality of tibial epiphyses	2	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional		284
HP:0002981	HP:0002970	Genu varum	2	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040282 - Frequent		284
HP:0002981	HP:0002857	Genu valgum	2	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.		284
HP:0002981	HP:0002857	Genu valgum	2	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040282 - Frequent		284
HP:0002981	HP:0100694	Tibial torsion	2	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type			284
HP:0002981	HP:0002857	Genu valgum	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		284
HP:0002981	HP:0002970	Genu varum	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		284
HP:0002981	HP:0002982	Tibial bowing	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		284
HP:0002981	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:0002981	HP:0002857	Genu valgum	2	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040282 - Frequent		284
HP:0002981	HP:0002857	Genu valgum	2	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		110
HP:0002981	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:0002981	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:0002981	HP:0002857	Genu valgum	2	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0002981	HP:0002857	Genu valgum	2	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		110
HP:0002981	HP:0002970	Genu varum	2	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2	.		110
HP:0002981	HP:0100694	Tibial torsion	2	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0002981	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:0002981	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:0002981	HP:0100694	Tibial torsion	2	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0002981	HP:0002857	Genu valgum	2	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		137
HP:0002981	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:0002981	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:0002981	HP:0002857	Genu valgum	2	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.		89
HP:0002981	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:0002981	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:0002981	HP:0002857	Genu valgum	2	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0002981	HP:0002970	Genu varum	2	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional		89
HP:0002981	HP:0002857	Genu valgum	2	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional		89
HP:0002981	HP:0002970	Genu varum	2	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0002981	HP:0002982	Tibial bowing	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002981	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:0002981	HP:0002857	Genu valgum	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0002981	HP:0002857	Genu valgum	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.		178
HP:0002981	HP:0002857	Genu valgum	2	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent		60
HP:0002981	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:0002981	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:0002981	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:0002981	HP:0002982	Tibial bowing	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0002981	HP:0010502	Fibular bowing	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0002981	HP:0002980	Femoral bowing	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0002981	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:0002981	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:0002981	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:0002981	HP:0002982	Tibial bowing	2	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0002981	HP:0010502	Fibular bowing	2	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0002981	HP:0002980	Femoral bowing	2	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0002981	HP:0002970	Genu varum	2	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0002981	HP:0003085	Long fibula	2	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0002981	HP:0003099	Fibular overgrowth	2	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0002981	HP:0002970	Genu varum	2	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0002981	HP:0003099	Fibular overgrowth	2	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0002981	HP:0002970	Genu varum	2	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0002981	HP:0100694	Tibial torsion	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0002981	HP:0006508	Abnormality of tibial epiphyses	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002981	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:0002981	HP:0002982	Tibial bowing	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent		48
HP:0002981	HP:0002970	Genu varum	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		48
HP:0002981	HP:0002980	Femoral bowing	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0002981	HP:0002857	Genu valgum	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome			9
HP:0002981	HP:0002857	Genu valgum	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional		65
HP:0002981	HP:0002857	Genu valgum	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0002981	HP:0002980	Femoral bowing	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0002981	HP:0002982	Tibial bowing	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0002981	HP:0002970	Genu varum	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0002981	HP:0002857	Genu valgum	2	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.		65
HP:0002981	HP:0002970	Genu varum	2	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.		65
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3			304
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3			304
HP:0002981	HP:0002980	Femoral bowing	2	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	.		304
HP:0002981	HP:0002980	Femoral bowing	2	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0002981	HP:0002857	Genu valgum	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		7
HP:0002981	HP:0002970	Genu varum	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.		1
HP:0002981	HP:0002857	Genu valgum	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0002981	HP:0002857	Genu valgum	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002981	HP:0002857	Genu valgum	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0002981	HP:0031260	Triangular tibia	2	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0002981	HP:0002980	Femoral bowing	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0002981	HP:0002982	Tibial bowing	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent		151
HP:0002981	HP:0002970	Genu varum	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		151
HP:0002981	HP:0002857	Genu valgum	2	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.		151
HP:0002981	HP:0002970	Genu varum	2	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.		151
HP:0002981	HP:0002857	Genu valgum	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		209
HP:0002981	HP:0002857	Genu valgum	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.		209
HP:0002981	HP:0002857	Genu valgum	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		137
HP:0002981	HP:0002857	Genu valgum	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.		137
HP:0002981	HP:0002857	Genu valgum	2	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	.		96
HP:0002981	HP:0002857	Genu valgum	2	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		96
HP:0002981	HP:0002857	Genu valgum	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional		96
HP:0002981	HP:0002857	Genu valgum	2	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II	.		102
HP:0002981	HP:0002857	Genu valgum	2	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		102
HP:0002981	HP:0002857	Genu valgum	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		1361
HP:0002981	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:0002981	HP:0002980	Femoral bowing	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0002981	HP:0002970	Genu varum	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.		145
HP:0002981	HP:0002970	Genu varum	2	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040282 - Frequent		145
HP:0002981	HP:0002970	Genu varum	2	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA	.		145
HP:0002981	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:0002981	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:0002981	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:0002981	HP:0002980	Femoral bowing	2	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent		145
HP:0002981	HP:0002980	Femoral bowing	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0002981	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:0002981	HP:0100694	Tibial torsion	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional		2
HP:0002981	HP:0002857	Genu valgum	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002981	HP:0002857	Genu valgum	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0002981	HP:0002982	Tibial bowing	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0002981	HP:0002857	Genu valgum	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0002981	HP:0002980	Femoral bowing	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0002981	HP:0002982	Tibial bowing	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0002981	HP:0002980	Femoral bowing	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0002981	HP:0002982	Tibial bowing	2	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.		233
HP:0002981	HP:0002982	Tibial bowing	2	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.		233
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia			233
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040281 - Very frequent		233
HP:0002981	HP:0002970	Genu varum	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		9
HP:0002981	HP:0002857	Genu valgum	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		9
HP:0002981	HP:0002982	Tibial bowing	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		9
HP:0002981	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:0002981	HP:0100694	Tibial torsion	2	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional		134
HP:0002981	HP:0100694	Tibial torsion	2	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		10
HP:0002981	HP:0100694	Tibial torsion	2	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional		139
HP:0002981	HP:0100694	Tibial torsion	2	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		139
HP:0002981	HP:0002857	Genu valgum	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.		123
HP:0002981	HP:0002857	Genu valgum	2	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040283 - Occasional		121
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type			52
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type			52
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0002981	HP:0002980	Femoral bowing	2	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type			52
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type			52
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent		52
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly			52
HP:0002981	HP:0002857	Genu valgum	2	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.		120
HP:0002981	HP:0002857	Genu valgum	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		1
HP:0002981	HP:0002857	Genu valgum	2	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8			1
HP:0002981	HP:0005928	Synostosis involving the fibula	2	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0002981	HP:0005929	Synostosis involving the tibia	2	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0002981	HP:0002857	Genu valgum	2	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.		57
HP:0002981	HP:0002982	Tibial bowing	2	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0002981	HP:0002980	Femoral bowing	2	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0002981	HP:0012107	Increased fibular diameter	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.		99
HP:0002981	HP:0003085	Long fibula	2	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.		3
HP:0002981	HP:0003085	Long fibula	2	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040281 - Very frequent		3
HP:0002981	HP:0002857	Genu valgum	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0002981	HP:0002857	Genu valgum	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0002981	HP:0002857	Genu valgum	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0002981	HP:0002857	Genu valgum	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0002981	HP:0002857	Genu valgum	2	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0002981	HP:0002857	Genu valgum	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040282 - Frequent		580
HP:0002981	HP:0002857	Genu valgum	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0002981	HP:0100694	Tibial torsion	2	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		54
HP:0002981	HP:0002857	Genu valgum	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0002981	HP:0002857	Genu valgum	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0002981	HP:0002970	Genu varum	2	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		55
HP:0002981	HP:0002857	Genu valgum	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0002981	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:0002981	HP:0002857	Genu valgum	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent		345
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0002981	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:0002981	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:0002981	HP:0002970	Genu varum	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0002981	HP:0002857	Genu valgum	2	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.		115
HP:0002981	HP:0002857	Genu valgum	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0002981	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:0002981	HP:0002857	Genu valgum	2	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0002981	HP:0002970	Genu varum	2	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040282 - Frequent		44
HP:0002981	HP:0002970	Genu varum	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0002981	HP:0003099	Fibular overgrowth	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0002981	HP:0012107	Increased fibular diameter	2	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		18
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002981	HP:0002857	Genu valgum	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002981	HP:0002857	Genu valgum	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002970	Genu varum	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0002981	HP:0002857	Genu valgum	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0002981	HP:0002857	Genu valgum	2	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.		14
HP:0002981	HP:0002857	Genu valgum	2	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent		14
HP:0002981	HP:0002970	Genu varum	2	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent		14
HP:0002981	HP:0002857	Genu valgum	2	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.		167
HP:0002981	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:0002981	HP:0002970	Genu varum	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0002981	HP:0002857	Genu valgum	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0002981	HP:0002857	Genu valgum	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		196
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0002981	HP:0002980	Femoral bowing	2	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0002981	HP:0002980	Femoral bowing	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0002981	HP:0002857	Genu valgum	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0002981	HP:0002857	Genu valgum	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0002981	HP:0002982	Tibial bowing	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0002981	HP:0002980	Femoral bowing	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0002981	HP:0002857	Genu valgum	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia			106
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP			106
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP			106
HP:0002981	HP:0010503	Fibular duplication	2	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040282 - Frequent		106
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome			106
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome			106
HP:0002981	HP:0010503	Fibular duplication	2	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome	.		106
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4			106
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly			106
HP:0002981	HP:0010503	Fibular duplication	2	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly			106
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040281 - Very frequent		106
HP:0002981	HP:0002970	Genu varum	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0002981	HP:0002857	Genu valgum	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0002981	HP:0002857	Genu valgum	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0002981	HP:0002857	Genu valgum	2	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		4
HP:0002981	HP:0002970	Genu varum	2	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0002981	HP:0002857	Genu valgum	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0002981	HP:0002980	Femoral bowing	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0002981	HP:0002857	Genu valgum	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0002981	HP:0002857	Genu valgum	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		134
HP:0002981	HP:0002857	Genu valgum	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		178
HP:0002981	HP:0002857	Genu valgum	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0002981	HP:0002857	Genu valgum	2	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0002981	HP:0002970	Genu varum	2	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040282 - Frequent		32
HP:0002981	HP:0002857	Genu valgum	2	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040282 - Frequent		32
HP:0002981	HP:0002980	Femoral bowing	2	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related			32
HP:0002981	HP:0002857	Genu valgum	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0002981	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:0002981	HP:0006508	Abnormality of tibial epiphyses	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002981	HP:0002857	Genu valgum	2	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040282 - Frequent		13
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	MET CL E G H	4233	7029	OMIM:607278	Osteofibrous dysplasia, susceptibility to			375
HP:0002981	HP:0002857	Genu valgum	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0002981	HP:0002857	Genu valgum	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0002981	HP:0002857	Genu valgum	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002857	Genu valgum	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0002981	HP:0002970	Genu varum	2	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type	HP:0040281 - Very frequent		52
HP:0002981	HP:0002857	Genu valgum	2	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type	.		52
HP:0002981	HP:0002980	Femoral bowing	2	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type	HP:0040282 - Frequent		52
HP:0002981	HP:0002970	Genu varum	2	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type	HP:0040282 - Frequent		52
HP:0002981	HP:0002980	Femoral bowing	2	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.		52
HP:0002981	HP:0002982	Tibial bowing	2	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type	HP:0040282 - Frequent		52
HP:0002981	HP:0002982	Tibial bowing	2	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.		52
HP:0002981	HP:0002970	Genu varum	2	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.		52
HP:0002981	HP:0002970	Genu varum	2	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2			31
HP:0002981	HP:0002857	Genu valgum	2	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional		134
HP:0002981	HP:0002857	Genu valgum	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002981	HP:0031107	Decreased fibular diameter	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002981	HP:0003085	Long fibula	2	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0002981	HP:0002857	Genu valgum	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0002981	HP:0002857	Genu valgum	2	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0002981	HP:0002857	Genu valgum	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0002981	HP:0002970	Genu varum	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0002981	HP:0002980	Femoral bowing	2	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.		43
HP:0002981	HP:0002980	Femoral bowing	2	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0002981	HP:0002857	Genu valgum	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002981	HP:0002980	Femoral bowing	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002981	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:0002981	HP:0002857	Genu valgum	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.		1952
HP:0002981	HP:0009736	Tibial pseudarthrosis	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0002981	HP:0002857	Genu valgum	2	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.		10
HP:0002981	HP:0002970	Genu varum	2	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.		10
HP:0002981	HP:0002857	Genu valgum	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0002981	HP:0002857	Genu valgum	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0002981	HP:0002857	Genu valgum	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1	.		544
HP:0002981	HP:0002857	Genu valgum	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0002981	HP:0002857	Genu valgum	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0002981	HP:0002857	Genu valgum	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0002981	HP:0002970	Genu varum	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0002981	HP:0002970	Genu varum	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0002981	HP:0002980	Femoral bowing	2	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.		43
HP:0002981	HP:0002982	Tibial bowing	2	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.		43
HP:0002981	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:0002981	HP:0031107	Decreased fibular diameter	2	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0002981	HP:0100694	Tibial torsion	2	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional		225
HP:0002981	HP:0002982	Tibial bowing	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0002981	HP:0002980	Femoral bowing	2	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.		11
HP:0002981	HP:0002982	Tibial bowing	2	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.		11
HP:0002981	HP:0002857	Genu valgum	2	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent		66
HP:0002981	HP:0002980	Femoral bowing	2	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0002981	HP:0002982	Tibial bowing	2	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0002981	HP:0002857	Genu valgum	2	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0002981	HP:0010502	Fibular bowing	2	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0002981	HP:0002970	Genu varum	2	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0002981	HP:0002857	Genu valgum	2	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF			8
HP:0002981	HP:0002980	Femoral bowing	2	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.		45
HP:0002981	HP:0002857	Genu valgum	2	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional		79
HP:0002981	HP:0002980	Femoral bowing	2	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.		8
HP:0002981	HP:0002970	Genu varum	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0002981	HP:0002970	Genu varum	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0002981	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:0002981	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:0002981	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:0002981	HP:0005929	Synostosis involving the tibia	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0002981	HP:0005928	Synostosis involving the fibula	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0002981	HP:0002857	Genu valgum	2	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1			2
HP:0002981	HP:0002857	Genu valgum	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0002981	HP:0002857	Genu valgum	2	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0002981	HP:0002857	Genu valgum	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0002981	HP:0002970	Genu varum	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0002981	HP:0002857	Genu valgum	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0002981	HP:0002980	Femoral bowing	2	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0002981	HP:0100694	Tibial torsion	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome			58
HP:0002981	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:0002981	HP:0002857	Genu valgum	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002857	Genu valgum	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002857	Genu valgum	2	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040282 - Frequent		31
HP:0002981	HP:0002857	Genu valgum	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0002981	HP:0002970	Genu varum	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0002981	HP:0002857	Genu valgum	2	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2	.		53
HP:0002981	HP:0006491	Abnormal tibial metaphysis morphology	2	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent		365
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002981	HP:0002980	Femoral bowing	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002981	HP:0100694	Tibial torsion	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0002981	HP:0002970	Genu varum	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002981	HP:0002970	Genu varum	2	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040282 - Frequent		10
HP:0002981	HP:0100694	Tibial torsion	2	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040282 - Frequent		10
HP:0002981	HP:0002970	Genu varum	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional		445
HP:0002981	HP:0002857	Genu valgum	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002981	HP:0002980	Femoral bowing	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.		37
HP:0002981	HP:0002982	Tibial bowing	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0002981	HP:0002970	Genu varum	2	RMRP CL E G H	6023	10031	OMIM:250460	Metaphyseal dysplasia without hypotrichosis	.		37
HP:0002981	HP:0002980	Femoral bowing	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0002981	HP:0002857	Genu valgum	2	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0002981	HP:0002970	Genu varum	2	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0002981	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:0002981	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:0002981	HP:0002980	Femoral bowing	2	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0002981	HP:0006508	Abnormality of tibial epiphyses	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002981	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:0002981	HP:0002857	Genu valgum	2	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional		90
HP:0002981	HP:0002982	Tibial bowing	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0002981	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:0002981	HP:0002980	Femoral bowing	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.		11
HP:0002981	HP:0100694	Tibial torsion	2	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional		1053
HP:0002981	HP:0100694	Tibial torsion	2	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		1053
HP:0002981	HP:0100694	Tibial torsion	2	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional		126
HP:0002981	HP:0100694	Tibial torsion	2	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		126
HP:0002981	HP:0100694	Tibial torsion	2	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional		427
HP:0002981	HP:0100694	Tibial torsion	2	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		427
HP:0002981	HP:0100694	Tibial torsion	2	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional		318
HP:0002981	HP:0100694	Tibial torsion	2	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		318
HP:0002981	HP:0002857	Genu valgum	2	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.		52
HP:0002981	HP:0002982	Tibial bowing	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0002981	HP:0002982	Tibial bowing	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0002981	HP:0002857	Genu valgum	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type			49
HP:0002981	HP:0002857	Genu valgum	2	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease	.		3
HP:0002981	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:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4			67
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040281 - Very frequent		67
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent		66
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia			66
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia			66
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0002981	HP:0002970	Genu varum	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent		66
HP:0002981	HP:0002982	Tibial bowing	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent		66
HP:0002981	HP:0002857	Genu valgum	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040282 - Frequent		66
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0002981	HP:0002982	Tibial bowing	2	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0002981	HP:0002982	Tibial bowing	2	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent		66
HP:0002981	HP:0002857	Genu valgum	2	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent		66
HP:0002981	HP:0002857	Genu valgum	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0002981	HP:0002857	Genu valgum	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		150
HP:0002981	HP:0002857	Genu valgum	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0002981	HP:0002857	Genu valgum	2	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent		166
HP:0002981	HP:0100694	Tibial torsion	2	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent		166
HP:0002981	HP:0002857	Genu valgum	2	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0002981	HP:0002857	Genu valgum	2	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent		166
HP:0002981	HP:0100694	Tibial torsion	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002981	HP:0002982	Tibial bowing	2	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0002981	HP:0010502	Fibular bowing	2	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0002981	HP:0002980	Femoral bowing	2	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0002981	HP:0012107	Increased fibular diameter	2	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		9
HP:0002981	HP:0002970	Genu varum	2	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		13
HP:0002981	HP:0002982	Tibial bowing	2	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0002981	HP:0002982	Tibial bowing	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0002981	HP:0002857	Genu valgum	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0002857	Genu valgum	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0002981	HP:0002980	Femoral bowing	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002981	HP:0002980	Femoral bowing	2	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040282 - Frequent		109
HP:0002981	HP:0002982	Tibial bowing	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002981	HP:0002982	Tibial bowing	2	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent		109
HP:0002981	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:0002981	HP:0002857	Genu valgum	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002981	HP:0002857	Genu valgum	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002981	HP:0100694	Tibial torsion	2	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		9
HP:0002981	HP:0031107	Decreased fibular diameter	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	.		2
HP:0002981	HP:0002857	Genu valgum	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV			31
HP:0002981	HP:0002970	Genu varum	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0002981	HP:0002980	Femoral bowing	2	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0002981	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:0002981	HP:0002857	Genu valgum	2	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0002981	HP:0002857	Genu valgum	2	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional		13
HP:0002981	HP:0002857	Genu valgum	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002981	HP:0002980	Femoral bowing	2	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0002981	HP:0002980	Femoral bowing	2	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0002981	HP:0002980	Femoral bowing	2	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0002981	HP:0002857	Genu valgum	2	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.		44
HP:0002981	HP:0002857	Genu valgum	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040282 - Frequent
HP:0002981	HP:0002970	Genu varum	2	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0002981	HP:0002857	Genu valgum	2	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0002981	HP:0006491	Abnormal tibial metaphysis morphology	2	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent		911
HP:0002981	HP:0002857	Genu valgum	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0002981	HP:0002970	Genu varum	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0002981	HP:0003832	Abnormality of the tibial plateaux	2	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional		46
HP:0002981	HP:0002970	Genu varum	2	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.		133
HP:0002981	HP:0002857	Genu valgum	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional		171
HP:0002981	HP:0002857	Genu valgum	2	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0002981	HP:0002857	Genu valgum	2	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism	.		214
HP:0002981	HP:0002857	Genu valgum	2	TRPV4 CL E G H	59341	18083	OMIM:184095	Spondyloepiphyseal dysplasia, Maroteaux type	.		214
HP:0002981	HP:0002970	Genu varum	2	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent		214
HP:0002981	HP:0002980	Femoral bowing	2	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.		4
HP:0002981	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:0002981	HP:0002970	Genu varum	2	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type	.		2
HP:0002981	HP:0002857	Genu valgum	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002981	HP:0002970	Genu varum	2	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040282 - Frequent		104
HP:0002981	HP:0002857	Genu valgum	2	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040283 - Occasional		104
HP:0002981	HP:0002982	Tibial bowing	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0002981	HP:0010502	Fibular bowing	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0002981	HP:0002980	Femoral bowing	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0002981	HP:0002857	Genu valgum	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent		546
HP:0002981	HP:0002857	Genu valgum	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0002981	HP:0002857	Genu valgum	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002981	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:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0002981	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:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0002981	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:0002981	HP:0006492	Aplasia/Hypoplasia of the fibula	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0002981	HP:0002970	Genu varum	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	.		14
HP:0002981	HP:0002857	Genu valgum	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0002981	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:0002981	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:0002981	HP:0002857	Genu valgum	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002981	HP:0002857	Genu valgum	2	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0002981	HP:0005772	Aplasia/Hypoplasia of the tibia	2	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040283 - Occasional		5
HP:0002981	HP:0041089	Avulsion fractured tibia	3	CL E G H
HP:0002981	HP:0006413	Broad tibial metaphyses	3	CL E G H
HP:0002981	HP:0034373	External tibial torsion	3	CL E G H
HP:0002981	HP:0003833	Laterally deficient tibial plateaux	3	CL E G H
HP:0002981	HP:0010592	Abnormality of the distal tibial epiphysis	3	CL E G H
HP:0002981	HP:0003038	Fibular hypoplasia	3	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0002981	HP:0003038	Fibular hypoplasia	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0002981	HP:0006423	Peg-like central prominence of distal tibial metaphyses	3	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.		60
HP:0002981	HP:0005736	Short tibia	3	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.		68
HP:0002981	HP:0002990	Fibular aplasia	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0002981	HP:0003038	Fibular hypoplasia	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0002981	HP:0009556	Absent tibia	3	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0002981	HP:0003038	Fibular hypoplasia	3	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0002981	HP:0003038	Fibular hypoplasia	3	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional		4
HP:0002981	HP:0002990	Fibular aplasia	3	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.		90
HP:0002981	HP:0005736	Short tibia	3	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent		90
HP:0002981	HP:0003038	Fibular hypoplasia	3	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent		90
HP:0002981	HP:0005067	Proximal fibular overgrowth	3	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.		85
HP:0002981	HP:0009556	Absent tibia	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0002981	HP:0006414	Distal tibial bowing	3	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.		79
HP:0002981	HP:0003038	Fibular hypoplasia	3	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0002981	HP:0010591	Abnormality of the proximal tibial epiphysis	3	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0002981	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:0002981	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:0002981	HP:0034372	Internal tibial torsion	3	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type			284
HP:0002981	HP:0034372	Internal tibial torsion	3	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0002981	HP:0100531	Wind-swept deformity of the knees	3	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent		89
HP:0002981	HP:0002990	Fibular aplasia	3	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002981	HP:0010591	Abnormality of the proximal tibial epiphysis	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002981	HP:0005736	Short tibia	3	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:0002981	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:0002981	HP:0005736	Short tibia	3	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.		9
HP:0002981	HP:0003038	Fibular hypoplasia	3	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional		304
HP:0002981	HP:0009556	Absent tibia	3	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional		304
HP:0002981	HP:0003038	Fibular hypoplasia	3	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	HP:0040283 - Occasional		4
HP:0002981	HP:0005736	Short tibia	3	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	HP:0040283 - Occasional		4
HP:0002981	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:0002981	HP:0002990	Fibular aplasia	3	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent		493
HP:0002981	HP:0005090	Lateral femoral bowing	3	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.		493
HP:0002981	HP:0003038	Fibular hypoplasia	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0002981	HP:0002990	Fibular aplasia	3	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional		233
HP:0002981	HP:0005736	Short tibia	3	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional		233
HP:0002981	HP:0002990	Fibular aplasia	3	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0002981	HP:0002990	Fibular aplasia	3	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.		233
HP:0002981	HP:0003038	Fibular hypoplasia	3	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent		52
HP:0002981	HP:0005736	Short tibia	3	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent		52
HP:0002981	HP:0005736	Short tibia	3	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.		52
HP:0002981	HP:0003038	Fibular hypoplasia	3	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0002981	HP:0005096	Distal femoral bowing	3	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.		52
HP:0002981	HP:0005736	Short tibia	3	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.		52
HP:0002981	HP:0003038	Fibular hypoplasia	3	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.		52
HP:0002981	HP:0003038	Fibular hypoplasia	3	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly	.		52
HP:0002981	HP:0002990	Fibular aplasia	3	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly			52
HP:0002981	HP:0009556	Absent tibia	3	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040281 - Very frequent		270
HP:0002981	HP:0005736	Short tibia	3	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional		270
HP:0002981	HP:0006426	Rudimentary to absent tibiae	3	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional		270
HP:0002981	HP:0005892	Proximal tibial and fibular fusion	3	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional		270
HP:0002981	HP:0003038	Fibular hypoplasia	3	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.		99
HP:0002981	HP:0005736	Short tibia	3	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.		99
HP:0002981	HP:0005736	Short tibia	3	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0002981	HP:0003038	Fibular hypoplasia	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0002981	HP:0005736	Short tibia	3	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0002981	HP:0003038	Fibular hypoplasia	3	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		18
HP:0002981	HP:0003038	Fibular hypoplasia	3	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002981	HP:0005736	Short tibia	3	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002981	HP:0005736	Short tibia	3	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0002981	HP:0005736	Short tibia	3	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0002981	HP:0002990	Fibular aplasia	3	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia	HP:0040281 - Very frequent		106
HP:0002981	HP:0005736	Short tibia	3	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP			106
HP:0002981	HP:0002990	Fibular aplasia	3	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP			106
HP:0002981	HP:0009556	Absent tibia	3	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome	.		106
HP:0002981	HP:0009556	Absent tibia	3	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040282 - Frequent		106
HP:0002981	HP:0005736	Short tibia	3	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4	HP:0040282 - Frequent		106
HP:0002981	HP:0009556	Absent tibia	3	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly	.		106
HP:0002981	HP:0005736	Short tibia	3	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly			106
HP:0002981	HP:0010591	Abnormality of the proximal tibial epiphysis	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002981	HP:0005736	Short tibia	3	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:0002981	HP:0003038	Fibular hypoplasia	3	MET CL E G H	4233	7029	OMIM:607278	Osteofibrous dysplasia, susceptibility to	HP:0040283 - Occasional		375
HP:0002981	HP:0005736	Short tibia	3	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional		101
HP:0002981	HP:0005736	Short tibia	3	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0002981	HP:0009556	Absent tibia	3	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF			8
HP:0002981	HP:0005892	Proximal tibial and fibular fusion	3	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare		76
HP:0002981	HP:0003038	Fibular hypoplasia	3	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome	.		58
HP:0002981	HP:0003038	Fibular hypoplasia	3	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent		58
HP:0002981	HP:0002990	Fibular aplasia	3	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional		10
HP:0002981	HP:0002990	Fibular aplasia	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002981	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:0002981	HP:0010591	Abnormality of the proximal tibial epiphysis	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002981	HP:0005736	Short tibia	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002981	HP:0006390	Anterior tibial bowing	3	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0002981	HP:0003038	Fibular hypoplasia	3	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040282 - Frequent		49
HP:0002981	HP:0005736	Short tibia	3	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4	HP:0040282 - Frequent		67
HP:0002981	HP:0005736	Short tibia	3	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.		66
HP:0002981	HP:0003038	Fibular hypoplasia	3	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia			66
HP:0002981	HP:0005736	Short tibia	3	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent		66
HP:0002981	HP:0003038	Fibular hypoplasia	3	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0002981	HP:0005736	Short tibia	3	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0002981	HP:0005736	Short tibia	3	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare		27
HP:0002981	HP:0003038	Fibular hypoplasia	3	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		9
HP:0002981	HP:0003038	Fibular hypoplasia	3	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0002981	HP:0003038	Fibular hypoplasia	3	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0002981	HP:0005736	Short tibia	3	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0002981	HP:0003038	Fibular hypoplasia	3	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent		109
HP:0002981	HP:0006390	Anterior tibial bowing	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0002981	HP:0003038	Fibular hypoplasia	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0002981	HP:0002990	Fibular aplasia	3	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.		5
HP:0002981	HP:0005736	Short tibia	3	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV	.		31
HP:0002981	HP:0005090	Lateral femoral bowing	3	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0002981	HP:0002990	Fibular aplasia	3	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly	.		13
HP:0002981	HP:0002990	Fibular aplasia	3	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent		13
HP:0002981	HP:0002990	Fibular aplasia	3	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0002981	HP:0006442	Hypoplasia of proximal fibula	4	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0002981	HP:0012284	Small proximal tibial epiphyses	4	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.		215
HP:0002981	HP:0006456	Irregular proximal tibial epiphyses	4	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.		215
HP:0002981	HP:0012284	Small proximal tibial epiphyses	4	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:0002981	HP:0006381	Rudimentary fibula	4	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0002981	HP:0006379	Proximal tibial hypoplasia	4	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.		31
HP:0002981	HP:0012284	Small proximal tibial epiphyses	4	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:0002981	HP:0005766	Disproportionate shortening of the tibia	4	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.		101
HP:0002981	HP:0012284	Small proximal tibial epiphyses	4	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002981	HP:0006381	Rudimentary fibula	4	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.		66