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:0002948	HP:0002948	Vertebral fusion	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0002948	HP:0002948	Vertebral fusion	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0002948	HP:0002948	Vertebral fusion	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0002948	HP:0002948	Vertebral fusion	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0002948	HP:0002948	Vertebral fusion	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:0002948	HP:0002948	Vertebral fusion	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0002948	HP:0002948	Vertebral fusion	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0002948	HP:0002948	Vertebral fusion	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0002948	HP:0002948	Vertebral fusion	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0002948	HP:0002948	Vertebral fusion	0	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis		78
HP:0002948	HP:0002948	Vertebral fusion	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0002948	HP:0002948	Vertebral fusion	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0002948	HP:0002948	Vertebral fusion	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0002948	HP:0002948	Vertebral fusion	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0002948	HP:0002948	Vertebral fusion	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0002948	HP:0002948	Vertebral fusion	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0002948	HP:0002948	Vertebral fusion	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0002948	HP:0002948	Vertebral fusion	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia		284
HP:0002948	HP:0002948	Vertebral fusion	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0002948	HP:0002948	Vertebral fusion	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0002948	HP:0002948	Vertebral fusion	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0002948	HP:0002948	Vertebral fusion	0	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements		36
HP:0002948	HP:0002948	Vertebral fusion	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0002948	HP:0002948	Vertebral fusion	0	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1	.	45
HP:0002948	HP:0002948	Vertebral fusion	0	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements		2
HP:0002948	HP:0002948	Vertebral fusion	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0002948	HP:0002948	Vertebral fusion	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0002948	HP:0002948	Vertebral fusion	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0002948	HP:0002948	Vertebral fusion	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0002948	HP:0002948	Vertebral fusion	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome		175
HP:0002948	HP:0002948	Vertebral fusion	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0002948	HP:0002948	Vertebral fusion	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0002948	HP:0002948	Vertebral fusion	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0002948	HP:0002948	Vertebral fusion	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0002948	HP:0002948	Vertebral fusion	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0002948	HP:0002948	Vertebral fusion	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1		493
HP:0002948	HP:0002948	Vertebral fusion	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0002948	HP:0002948	Vertebral fusion	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0002948	HP:0002948	Vertebral fusion	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0002948	HP:0002948	Vertebral fusion	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0002948	HP:0002948	Vertebral fusion	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence		3
HP:0002948	HP:0002948	Vertebral fusion	0	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome		7
HP:0002948	HP:0002948	Vertebral fusion	0	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant		7
HP:0002948	HP:0002948	Vertebral fusion	0	GDF5 CL E G H	8200	4220	OMIM:610017	Multiple synostoses syndrome 2		52
HP:0002948	HP:0002948	Vertebral fusion	0	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome		64
HP:0002948	HP:0002948	Vertebral fusion	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0002948	HP:0002948	Vertebral fusion	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent	73
HP:0002948	HP:0002948	Vertebral fusion	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0002948	HP:0002948	Vertebral fusion	0	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.	10
HP:0002948	HP:0002948	Vertebral fusion	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria	.	77
HP:0002948	HP:0002948	Vertebral fusion	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0002948	HP:0002948	Vertebral fusion	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0002948	HP:0002948	Vertebral fusion	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0002948	HP:0002948	Vertebral fusion	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0002948	HP:0002948	Vertebral fusion	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0002948	HP:0002948	Vertebral fusion	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0002948	HP:0002948	Vertebral fusion	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0002948	HP:0002948	Vertebral fusion	0	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome		5
HP:0002948	HP:0002948	Vertebral fusion	0	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive		5
HP:0002948	HP:0002948	Vertebral fusion	0	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1	.	45
HP:0002948	HP:0002948	Vertebral fusion	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.	166
HP:0002948	HP:0002948	Vertebral fusion	0	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B		166
HP:0002948	HP:0002948	Vertebral fusion	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0002948	HP:0002948	Vertebral fusion	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0002948	HP:0002948	Vertebral fusion	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0002948	HP:0002948	Vertebral fusion	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0002948	HP:0002948	Vertebral fusion	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0002948	HP:0002948	Vertebral fusion	0	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements
HP:0002948	HP:0002948	Vertebral fusion	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0002948	HP:0002948	Vertebral fusion	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040282 - Frequent	665
HP:0002948	HP:0002948	Vertebral fusion	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0002948	HP:0002948	Vertebral fusion	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040282 - Frequent	40
HP:0002948	HP:0002948	Vertebral fusion	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0002948	HP:0002948	Vertebral fusion	0	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.	19
HP:0002948	HP:0002948	Vertebral fusion	0	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements		9
HP:0002948	HP:0002948	Vertebral fusion	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0002948	HP:0002948	Vertebral fusion	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0002948	HP:0002948	Vertebral fusion	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1	.	120
HP:0002948	HP:0002948	Vertebral fusion	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0002948	HP:0002948	Vertebral fusion	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional	86
HP:0002948	HP:0002948	Vertebral fusion	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0002948	HP:0002948	Vertebral fusion	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0002948	HP:0002948	Vertebral fusion	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0002948	HP:0002948	Vertebral fusion	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0002948	HP:0002948	Vertebral fusion	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0002948	HP:0002948	Vertebral fusion	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0002948	HP:0002948	Vertebral fusion	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040282 - Frequent	11
HP:0002948	HP:0002948	Vertebral fusion	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0002948	HP:0002948	Vertebral fusion	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040282 - Frequent	124
HP:0002948	HP:0002948	Vertebral fusion	0	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5		19
HP:0002948	HP:0002948	Vertebral fusion	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0002948	HP:0002948	Vertebral fusion	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence		111
HP:0002948	HP:0002948	Vertebral fusion	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0002948	HP:0002948	Vertebral fusion	0	WNT4 CL E G H	54361	12783	ORPHA:3109	Mayer-Rokitansky-Küster-Hauser syndrome	HP:0040283 - Occasional	4
HP:0002948	HP:0002948	Vertebral fusion	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	CL E G H
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	CL E G H
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	CL E G H
HP:0002948	HP:0002949	Fused cervical vertebrae	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0002948	HP:0002949	Fused cervical vertebrae	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0002948	HP:0002949	Fused cervical vertebrae	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0002948	HP:0002949	Fused cervical vertebrae	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0002948	HP:0002949	Fused cervical vertebrae	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:0002948	HP:0002949	Fused cervical vertebrae	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0002948	HP:0002949	Fused cervical vertebrae	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis	HP:0040281 - Very frequent	78
HP:0002948	HP:0002949	Fused cervical vertebrae	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0002948	HP:0002949	Fused cervical vertebrae	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	35
HP:0002948	HP:0002949	Fused cervical vertebrae	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0002948	HP:0004557	Anterior vertebral fusion	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040283 - Occasional	284
HP:0002948	HP:0002949	Fused cervical vertebrae	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040283 - Occasional	284
HP:0002948	HP:0002949	Fused cervical vertebrae	1	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare	36
HP:0002948	HP:0002949	Fused cervical vertebrae	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0002948	HP:0003305	Block vertebrae	1	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1	.	45
HP:0002948	HP:0002949	Fused cervical vertebrae	1	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare	2
HP:0002948	HP:0002949	Fused cervical vertebrae	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151
HP:0002948	HP:0002949	Fused cervical vertebrae	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040283 - Occasional	62
HP:0002948	HP:0002949	Fused cervical vertebrae	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome		175
HP:0002948	HP:0002949	Fused cervical vertebrae	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0002948	HP:0002949	Fused cervical vertebrae	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0002948	HP:0002949	Fused cervical vertebrae	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040283 - Occasional	493
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0002948	HP:0002949	Fused cervical vertebrae	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0002948	HP:0003305	Block vertebrae	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent	3
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent	7
HP:0002948	HP:0002949	Fused cervical vertebrae	1	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome		7
HP:0002948	HP:0002949	Fused cervical vertebrae	1	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant		7
HP:0002948	HP:0002949	Fused cervical vertebrae	1	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome		64
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent	64
HP:0002948	HP:0002949	Fused cervical vertebrae	1	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0002948	HP:0003305	Block vertebrae	1	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.	10
HP:0002948	HP:0002949	Fused cervical vertebrae	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	63
HP:0002948	HP:0002949	Fused cervical vertebrae	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0002948	HP:0002949	Fused cervical vertebrae	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0002948	HP:0002949	Fused cervical vertebrae	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent	5
HP:0002948	HP:0002949	Fused cervical vertebrae	1	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome		5
HP:0002948	HP:0002949	Fused cervical vertebrae	1	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.	5
HP:0002948	HP:0003305	Block vertebrae	1	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1	.	45
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B		166
HP:0002948	HP:0002949	Fused cervical vertebrae	1	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B		166
HP:0002948	HP:0002949	Fused cervical vertebrae	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0002948	HP:0002949	Fused cervical vertebrae	1	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0002948	HP:0002949	Fused cervical vertebrae	1	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare
HP:0002948	HP:0002949	Fused cervical vertebrae	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0002948	HP:0002949	Fused cervical vertebrae	1	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare	9
HP:0002948	HP:0002949	Fused cervical vertebrae	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10
HP:0002948	HP:0002949	Fused cervical vertebrae	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	86
HP:0002948	HP:0002949	Fused cervical vertebrae	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0002948	HP:0003305	Block vertebrae	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent	111
HP:0002948	HP:0002949	Fused cervical vertebrae	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0002948	HP:0003305	Block vertebrae	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	CL E G H
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	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:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent	175
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent	7
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant	.	7
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant		7
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent	64
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent	5
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.	5
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5