Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked		7
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type		79
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		373
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		243
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type		284
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness		284
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita		284
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type		284
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type		284
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type		284
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		137
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1		89
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1		89
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts		160
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		48
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		151
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2		151
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I		96
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas		96
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II		102
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas		102
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1		61
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI		61
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type		9
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive		2
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040281 - Very frequent	44
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome		7
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2		14
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type		52
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2		31
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type		8
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2		40
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy		11
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome		11
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2		6
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome		6
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2		53
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome		15
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type		2
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia		90
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	SERPINF1 CL E G H	5176	8824	OMIM:613982	Osteogenesis imperfecta, type VI		35
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia		66
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome		67
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome		67
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension		55
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease		13
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome		166
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda		46
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked		46
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia		133
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3		214
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	UFSP2 CL E G H	55325	25640	ORPHA:2114	Hip dysplasia, Beukes type		2
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type		2
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG		14
HP:0003367	HP:0003367	Abnormal femoral neck morphology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0003367	HP:0002673	Coxa valga	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0003367	HP:0002673	Coxa valga	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	254
HP:0003367	HP:0006429	Broad femoral neck	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0003367	HP:0002812	Coxa vara	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0003367	HP:0002673	Coxa valga	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0003367	HP:0002812	Coxa vara	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0003367	HP:0002673	Coxa valga	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0003367	HP:0002673	Coxa valga	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0003367	HP:0002673	Coxa valga	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0003367	HP:0002812	Coxa vara	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0003367	HP:0100864	Short femoral neck	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0003367	HP:0002673	Coxa valga	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0003367	HP:0006429	Broad femoral neck	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	HP:0040283 - Occasional	3
HP:0003367	HP:0002673	Coxa valga	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0003367	HP:0002812	Coxa vara	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0003367	HP:0002812	Coxa vara	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0003367	HP:0002812	Coxa vara	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0003367	HP:0002673	Coxa valga	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0003367	HP:0002673	Coxa valga	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0003367	HP:0002673	Coxa valga	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0003367	HP:0100864	Short femoral neck	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0003367	HP:0002673	Coxa valga	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0003367	HP:0002673	Coxa valga	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.	29
HP:0003367	HP:0002673	Coxa valga	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0003367	HP:0002673	Coxa valga	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0003367	HP:0100864	Short femoral neck	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0003367	HP:0002812	Coxa vara	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0003367	HP:0006429	Broad femoral neck	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0003367	HP:0002673	Coxa valga	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0003367	HP:0100864	Short femoral neck	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0003367	HP:0033102	Monkey wrench femoral neck	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0003367	HP:0002812	Coxa vara	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	85
HP:0003367	HP:0002673	Coxa valga	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	85
HP:0003367	HP:0033102	Monkey wrench femoral neck	1	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0003367	HP:0100864	Short femoral neck	1	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0003367	HP:0002673	Coxa valga	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0003367	HP:0002812	Coxa vara	1	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0003367	HP:0002812	Coxa vara	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0003367	HP:0100864	Short femoral neck	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0003367	HP:0006429	Broad femoral neck	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0003367	HP:0002812	Coxa vara	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0003367	HP:0100864	Short femoral neck	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0003367	HP:0100864	Short femoral neck	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0003367	HP:0100864	Short femoral neck	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0003367	HP:0002673	Coxa valga	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional	52
HP:0003367	HP:0002673	Coxa valga	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0003367	HP:0002673	Coxa valga	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0003367	HP:0006429	Broad femoral neck	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0003367	HP:0002812	Coxa vara	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040281 - Very frequent	79
HP:0003367	HP:0002812	Coxa vara	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79
HP:0003367	HP:0002673	Coxa valga	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0003367	HP:0002673	Coxa valga	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0003367	HP:0002812	Coxa vara	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0003367	HP:0002673	Coxa valga	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0003367	HP:0002812	Coxa vara	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0003367	HP:0100864	Short femoral neck	1	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0003367	HP:0002812	Coxa vara	1	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0003367	HP:0008819	Narrow femoral neck	1	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0003367	HP:0002673	Coxa valga	1	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.	284
HP:0003367	HP:0002812	Coxa vara	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0003367	HP:0002812	Coxa vara	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent	284
HP:0003367	HP:0100864	Short femoral neck	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent	284
HP:0003367	HP:0002812	Coxa vara	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0003367	HP:0002812	Coxa vara	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0003367	HP:0100864	Short femoral neck	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional	284
HP:0003367	HP:0002673	Coxa valga	1	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.	284
HP:0003367	HP:0002812	Coxa vara	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040281 - Very frequent	284
HP:0003367	HP:0100864	Short femoral neck	1	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	284
HP:0003367	HP:0002812	Coxa vara	1	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	284
HP:0003367	HP:0002812	Coxa vara	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040282 - Frequent	284
HP:0003367	HP:0100864	Short femoral neck	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional	284
HP:0003367	HP:0002812	Coxa vara	1	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0003367	HP:0002673	Coxa valga	1	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0003367	HP:0002812	Coxa vara	1	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0003367	HP:0002673	Coxa valga	1	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0003367	HP:0002673	Coxa valga	1	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		137
HP:0003367	HP:0002812	Coxa vara	1	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	137
HP:0003367	HP:0006429	Broad femoral neck	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0003367	HP:0100864	Short femoral neck	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0003367	HP:0002812	Coxa vara	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040284 - Very rare	89
HP:0003367	HP:0100864	Short femoral neck	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0003367	HP:0002673	Coxa valga	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0003367	HP:0002812	Coxa vara	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0003367	HP:0002673	Coxa valga	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent
HP:0003367	HP:0002812	Coxa vara	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent
HP:0003367	HP:0033102	Monkey wrench femoral neck	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0003367	HP:0100864	Short femoral neck	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0003367	HP:0100864	Short femoral neck	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0003367	HP:0002812	Coxa vara	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0003367	HP:0100864	Short femoral neck	1	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:0003367	HP:0002673	Coxa valga	1	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:0003367	HP:0002812	Coxa vara	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0003367	HP:0002812	Coxa vara	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0003367	HP:0002812	Coxa vara	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0003367	HP:0002673	Coxa valga	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0003367	HP:0002812	Coxa vara	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0003367	HP:0002673	Coxa valga	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0003367	HP:0006429	Broad femoral neck	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent	65
HP:0003367	HP:0002812	Coxa vara	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0003367	HP:0002673	Coxa valga	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.	4
HP:0003367	HP:0002673	Coxa valga	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0003367	HP:0002812	Coxa vara	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0003367	HP:0002673	Coxa valga	1	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.	151
HP:0003367	HP:0002673	Coxa valga	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0003367	HP:0002673	Coxa valga	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0003367	HP:0100864	Short femoral neck	1	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.	3
HP:0003367	HP:0002812	Coxa vara	1	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	.	96
HP:0003367	HP:0002673	Coxa valga	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	96
HP:0003367	HP:0002812	Coxa vara	1	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II	.	102
HP:0003367	HP:0002673	Coxa valga	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	102
HP:0003367	HP:0002673	Coxa valga	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0003367	HP:0002673	Coxa valga	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0003367	HP:0100864	Short femoral neck	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0003367	HP:0002812	Coxa vara	1	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	61
HP:0003367	HP:0002812	Coxa vara	1	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI		61
HP:0003367	HP:0002673	Coxa valga	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0003367	HP:0002673	Coxa valga	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0003367	HP:0002673	Coxa valga	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent	493
HP:0003367	HP:0002673	Coxa valga	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0003367	HP:0002812	Coxa vara	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0003367	HP:0002812	Coxa vara	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040281 - Very frequent	9
HP:0003367	HP:0100864	Short femoral neck	1	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	9
HP:0003367	HP:0002812	Coxa vara	1	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	9
HP:0003367	HP:0002673	Coxa valga	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0003367	HP:0002812	Coxa vara	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0003367	HP:0002673	Coxa valga	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0003367	HP:0002673	Coxa valga	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0003367	HP:0002673	Coxa valga	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0003367	HP:0002673	Coxa valga	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0003367	HP:0002673	Coxa valga	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.	120
HP:0003367	HP:0002673	Coxa valga	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0003367	HP:0002673	Coxa valga	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040284 - Very rare	270
HP:0003367	HP:0002673	Coxa valga	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0003367	HP:0002673	Coxa valga	1	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive	HP:0040283 - Occasional	2
HP:0003367	HP:0002673	Coxa valga	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0003367	HP:0002673	Coxa valga	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0003367	HP:0002812	Coxa vara	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent	345
HP:0003367	HP:0002673	Coxa valga	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent	345
HP:0003367	HP:0002812	Coxa vara	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0003367	HP:0002673	Coxa valga	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0003367	HP:0002673	Coxa valga	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0003367	HP:0002673	Coxa valga	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0003367	HP:0100864	Short femoral neck	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0003367	HP:0100864	Short femoral neck	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0003367	HP:0002812	Coxa vara	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0003367	HP:0002812	Coxa vara	1	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040281 - Very frequent	44
HP:0003367	HP:0002673	Coxa valga	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	7
HP:0003367	HP:0002673	Coxa valga	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	23
HP:0003367	HP:0002673	Coxa valga	1	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0003367	HP:0002812	Coxa vara	1	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0003367	HP:0008819	Narrow femoral neck	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0003367	HP:0100864	Short femoral neck	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0003367	HP:0002673	Coxa valga	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0003367	HP:0002673	Coxa valga	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0003367	HP:0002673	Coxa valga	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0003367	HP:0033985	Elongated femoral neck	1	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0003367	HP:0002673	Coxa valga	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0003367	HP:0002673	Coxa valga	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0003367	HP:0002812	Coxa vara	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0003367	HP:0100864	Short femoral neck	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0003367	HP:0006429	Broad femoral neck	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5	.	32
HP:0003367	HP:0002673	Coxa valga	1	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:0003367	HP:0100864	Short femoral neck	1	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:0003367	HP:0002812	Coxa vara	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13
HP:0003367	HP:0002673	Coxa valga	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0003367	HP:0002812	Coxa vara	1	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.	52
HP:0003367	HP:0100864	Short femoral neck	1	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2		31
HP:0003367	HP:0100864	Short femoral neck	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003367	HP:0100864	Short femoral neck	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0003367	HP:0002812	Coxa vara	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0003367	HP:0002673	Coxa valga	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.	40
HP:0003367	HP:0002673	Coxa valga	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0003367	HP:0002812	Coxa vara	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.	10
HP:0003367	HP:0002673	Coxa valga	1	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0003367	HP:0002673	Coxa valga	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0003367	HP:0002812	Coxa vara	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0003367	HP:0002673	Coxa valga	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0003367	HP:0002812	Coxa vara	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent	531
HP:0003367	HP:0002812	Coxa vara	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0003367	HP:0002812	Coxa vara	1	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.	11
HP:0003367	HP:0002812	Coxa vara	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040281 - Very frequent	11
HP:0003367	HP:0002673	Coxa valga	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0003367	HP:0002812	Coxa vara	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0003367	HP:0100864	Short femoral neck	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0003367	HP:0100864	Short femoral neck	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0003367	HP:0100864	Short femoral neck	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0003367	HP:0002812	Coxa vara	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6
HP:0003367	HP:0100864	Short femoral neck	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6
HP:0003367	HP:0002673	Coxa valga	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	HP:0040283 - Occasional	6
HP:0003367	HP:0002812	Coxa vara	1	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.	6
HP:0003367	HP:0100864	Short femoral neck	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0003367	HP:0002812	Coxa vara	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0003367	HP:0006429	Broad femoral neck	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0003367	HP:0002673	Coxa valga	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0003367	HP:0006429	Broad femoral neck	1	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2	.	53
HP:0003367	HP:0006429	Broad femoral neck	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0003367	HP:0100864	Short femoral neck	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0003367	HP:0002812	Coxa vara	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0003367	HP:0002673	Coxa valga	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0003367	HP:0002673	Coxa valga	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040282 - Frequent	10
HP:0003367	HP:0002812	Coxa vara	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0003367	HP:0002812	Coxa vara	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040282 - Frequent	15
HP:0003367	HP:0002812	Coxa vara	1	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0003367	HP:0002673	Coxa valga	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0003367	HP:0100864	Short femoral neck	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0003367	HP:0002812	Coxa vara	1	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:0003367	HP:0100864	Short femoral neck	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0003367	HP:0002673	Coxa valga	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0003367	HP:0100864	Short femoral neck	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0003367	HP:0100864	Short femoral neck	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0003367	HP:0002812	Coxa vara	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional	90
HP:0003367	HP:0002812	Coxa vara	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0003367	HP:0002812	Coxa vara	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0003367	HP:0002812	Coxa vara	1	SERPINF1 CL E G H	5176	8824	OMIM:613982	Osteogenesis imperfecta, type VI	.	35
HP:0003367	HP:0100864	Short femoral neck	1	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent	66
HP:0003367	HP:0100864	Short femoral neck	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0003367	HP:0002673	Coxa valga	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0003367	HP:0002673	Coxa valga	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	67
HP:0003367	HP:0002673	Coxa valga	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.	67
HP:0003367	HP:0100864	Short femoral neck	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0003367	HP:0002673	Coxa valga	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0003367	HP:0002673	Coxa valga	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0003367	HP:0002812	Coxa vara	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent	166
HP:0003367	HP:0006429	Broad femoral neck	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0003367	HP:0100864	Short femoral neck	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0003367	HP:0002812	Coxa vara	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0003367	HP:0002673	Coxa valga	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0003367	HP:0002673	Coxa valga	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional	27
HP:0003367	HP:0006429	Broad femoral neck	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0003367	HP:0100864	Short femoral neck	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0003367	HP:0100864	Short femoral neck	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	24
HP:0003367	HP:0006429	Broad femoral neck	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	24
HP:0003367	HP:0002812	Coxa vara	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0003367	HP:0002673	Coxa valga	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0003367	HP:0002812	Coxa vara	1	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	.	55
HP:0003367	HP:0002812	Coxa vara	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.	82
HP:0003367	HP:0002673	Coxa valga	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0003367	HP:0002673	Coxa valga	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0003367	HP:0006429	Broad femoral neck	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0003367	HP:0100864	Short femoral neck	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.	166
HP:0003367	HP:0002812	Coxa vara	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0003367	HP:0100864	Short femoral neck	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040282 - Frequent
HP:0003367	HP:0002812	Coxa vara	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0003367	HP:0100864	Short femoral neck	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46
HP:0003367	HP:0002812	Coxa vara	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46
HP:0003367	HP:0100864	Short femoral neck	1	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46
HP:0003367	HP:0002812	Coxa vara	1	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46
HP:0003367	HP:0002673	Coxa valga	1	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040282 - Frequent	133
HP:0003367	HP:0100864	Short femoral neck	1	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.	214
HP:0003367	HP:0100864	Short femoral neck	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214
HP:0003367	HP:0002812	Coxa vara	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	.	214
HP:0003367	HP:0002812	Coxa vara	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent	214
HP:0003367	HP:0002812	Coxa vara	1	UFSP2 CL E G H	55325	25640	ORPHA:2114	Hip dysplasia, Beukes type	HP:0040283 - Occasional	2
HP:0003367	HP:0006429	Broad femoral neck	1	UFSP2 CL E G H	55325	25640	ORPHA:2114	Hip dysplasia, Beukes type	HP:0040281 - Very frequent	2
HP:0003367	HP:0006429	Broad femoral neck	1	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2
HP:0003367	HP:0002812	Coxa vara	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0003367	HP:0002673	Coxa valga	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0003367	HP:0002673	Coxa valga	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	HP:0040283 - Occasional	14
HP:0003367	HP:0033102	Monkey wrench femoral neck	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0003367	HP:0002812	Coxa vara	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	14
HP:0003367	HP:0002673	Coxa valga	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	14
HP:0003367	HP:0002673	Coxa valga	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent	14
HP:0003367	HP:0100864	Short femoral neck	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent	14
HP:0003367	HP:0002673	Coxa valga	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83
HP:0003367	HP:0010665	Bilateral coxa valga	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0003367	HP:0010665	Bilateral coxa valga	2	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0003367	HP:0010665	Bilateral coxa valga	2	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0003367	HP:0010665	Bilateral coxa valga	2	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0003367	HP:0010665	Bilateral coxa valga	2	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	137
HP:0003367	HP:0010665	Bilateral coxa valga	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0003367	HP:0010665	Bilateral coxa valga	2	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	165
HP:0003367	HP:0010665	Bilateral coxa valga	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0003367	HP:0010665	Bilateral coxa valga	2	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0003367	HP:0010665	Bilateral coxa valga	2	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	237
HP:0003367	HP:0010665	Bilateral coxa valga	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85