Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002948	HP:0002948	Vertebral fusion	0	ANKRD11 CL E G H	29123	2332				ORPHA	1	1515	21316	611192
HP:0002948	HP:0002948	Vertebral fusion	0	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1515	21316	611192
HP:0002948	HP:0002948	Vertebral fusion	0	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002948	HP:0002948	Vertebral fusion	0	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002948	HP:0002948	Vertebral fusion	0	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002948	HP:0002948	Vertebral fusion	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	167	2309	605032
HP:0002948	HP:0002948	Vertebral fusion	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	217	2494	602618
HP:0002948	HP:0002948	Vertebral fusion	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	288	3693	605830
HP:0002948	HP:0002948	Vertebral fusion	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0002948	HP:0002948	Vertebral fusion	0	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0002948	HP:0002948	Vertebral fusion	0	GDF5 CL E G H	8200	610017	Multiple synostoses syndrome 2	610017	C1832708	OMIM	1	175	4220	601146
HP:0002948	HP:0002948	Vertebral fusion	0	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0002948	HP:0002948	Vertebral fusion	0	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0002948	HP:0002948	Vertebral fusion	0	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0002948	HP:0002948	Vertebral fusion	0	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	263	6556	604407
HP:0002948	HP:0002948	Vertebral fusion	0	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	641	7573	160720
HP:0002948	HP:0002948	Vertebral fusion	0	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0002948	HP:0002948	Vertebral fusion	0	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	363	12766	602952
HP:0002948	HP:0002948	Vertebral fusion	0	PTCH1 CL E G H	5727	377				ORPHA	1	3848	9585	601309
HP:0002948	HP:0002948	Vertebral fusion	0	PTCH1 CL E G H	5727	109400	Gorlin syndrome	109400	C0004779	OMIM	1	3848	9585	601309
HP:0002948	HP:0002948	Vertebral fusion	0	PTCH2 CL E G H	8643	377				ORPHA	1	617	9586	603673
HP:0002948	HP:0002948	Vertebral fusion	0	PTCH2 CL E G H	8643	109400	Gorlin syndrome	109400	C0004779	OMIM	1	617	9586	603673
HP:0002948	HP:0002948	Vertebral fusion	0	PUF60 CL E G H	22827	615583	Verheij syndrome	615583	C3810023	OMIM	1	190	17042	604819
HP:0002948	HP:0002948	Vertebral fusion	0	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	1	474	10257	602337
HP:0002948	HP:0002948	Vertebral fusion	0	ROR2 CL E G H	4920	113000	Type B brachydactyly	113000	C1862112	OMIM	1	474	10257	602337
HP:0002948	HP:0002948	Vertebral fusion	0	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	78	10892	606326
HP:0002948	HP:0002948	Vertebral fusion	0	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	1	1739	6770	600993
HP:0002948	HP:0002948	Vertebral fusion	0	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	174	11195	184429
HP:0002948	HP:0002948	Vertebral fusion	0	SOX5 CL E G H	6660	313892				ORPHA	1	205	11201	604975
HP:0002948	HP:0002948	Vertebral fusion	0	SUFU CL E G H	51684	377				ORPHA	1	1114	16466	607035
HP:0002948	HP:0002948	Vertebral fusion	0	SUFU CL E G H	51684	109400	Gorlin syndrome	109400	C0004779	OMIM	1	1114	16466	607035
HP:0002948	HP:0002948	Vertebral fusion	0	TBX6 CL E G H	6911	122600	Spondylocostal dysostosis 5	122600	C1852521	OMIM	1	394	11605	602427
HP:0002948	HP:0002948	Vertebral fusion	0	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	ANKRD11 CL E G H	29123	2332				ORPHA	1	1515	21316	611192
HP:0002948	HP:0002949	Fused cervical vertebrae	1	ANKRD11 CL E G H	29123	2332				ORPHA	1	1515	21316	611192
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	ANKRD11 CL E G H	29123	2332				ORPHA	1	1515	21316	611192
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	ANKRD11 CL E G H	29123	2332				ORPHA	1	1515	21316	611192
HP:0002948	HP:0003305	Block vertebrae	1	ANKRD11 CL E G H	29123	2332				ORPHA	1	1515	21316	611192
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	ANKRD11 CL E G H	29123	2332				ORPHA	1	1515	21316	611192
HP:0002948	HP:0004557	Anterior vertebral fusion	1	ANKRD11 CL E G H	29123	2332				ORPHA	1	1515	21316	611192
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	ANKRD11 CL E G H	29123	2332				ORPHA	1	1515	21316	611192
HP:0002948	HP:0002949	Fused cervical vertebrae	1	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1515	21316	611192
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1515	21316	611192
HP:0002948	HP:0003305	Block vertebrae	1	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1515	21316	611192
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1515	21316	611192
HP:0002948	HP:0004557	Anterior vertebral fusion	1	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1515	21316	611192
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1515	21316	611192
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1515	21316	611192
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1515	21316	611192
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002948	HP:0004557	Anterior vertebral fusion	1	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002948	HP:0002949	Fused cervical vertebrae	1	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002948	HP:0003305	Block vertebrae	1	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002948	HP:0002949	Fused cervical vertebrae	1	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002948	HP:0003305	Block vertebrae	1	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002948	HP:0004557	Anterior vertebral fusion	1	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002948	HP:0004557	Anterior vertebral fusion	1	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002948	HP:0002949	Fused cervical vertebrae	1	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002948	HP:0003305	Block vertebrae	1	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	167	2309	605032
HP:0002948	HP:0002949	Fused cervical vertebrae	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	167	2309	605032
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	167	2309	605032
HP:0002948	HP:0003305	Block vertebrae	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	167	2309	605032
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	167	2309	605032
HP:0002948	HP:0004557	Anterior vertebral fusion	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	167	2309	605032
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	167	2309	605032
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	167	2309	605032
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	217	2494	602618
HP:0002948	HP:0004557	Anterior vertebral fusion	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	217	2494	602618
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	217	2494	602618
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	217	2494	602618
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	217	2494	602618
HP:0002948	HP:0002949	Fused cervical vertebrae	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	217	2494	602618
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	217	2494	602618
HP:0002948	HP:0003305	Block vertebrae	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	217	2494	602618
HP:0002948	HP:0002949	Fused cervical vertebrae	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	288	3693	605830
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	288	3693	605830
HP:0002948	HP:0003305	Block vertebrae	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	288	3693	605830
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	288	3693	605830
HP:0002948	HP:0004557	Anterior vertebral fusion	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	288	3693	605830
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	288	3693	605830
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	288	3693	605830
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	288	3693	605830
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0002948	HP:0004557	Anterior vertebral fusion	1	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0002948	HP:0002949	Fused cervical vertebrae	1	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0002948	HP:0003305	Block vertebrae	1	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0002948	HP:0002949	Fused cervical vertebrae	1	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0002948	HP:0003305	Block vertebrae	1	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0002948	HP:0004557	Anterior vertebral fusion	1	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0002948	HP:0004557	Anterior vertebral fusion	1	GDF5 CL E G H	8200	610017	Multiple synostoses syndrome 2	610017	C1832708	OMIM	1	175	4220	601146
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	GDF5 CL E G H	8200	610017	Multiple synostoses syndrome 2	610017	C1832708	OMIM	1	175	4220	601146
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	GDF5 CL E G H	8200	610017	Multiple synostoses syndrome 2	610017	C1832708	OMIM	1	175	4220	601146
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	GDF5 CL E G H	8200	610017	Multiple synostoses syndrome 2	610017	C1832708	OMIM	1	175	4220	601146
HP:0002948	HP:0002949	Fused cervical vertebrae	1	GDF5 CL E G H	8200	610017	Multiple synostoses syndrome 2	610017	C1832708	OMIM	1	175	4220	601146
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	GDF5 CL E G H	8200	610017	Multiple synostoses syndrome 2	610017	C1832708	OMIM	1	175	4220	601146
HP:0002948	HP:0003305	Block vertebrae	1	GDF5 CL E G H	8200	610017	Multiple synostoses syndrome 2	610017	C1832708	OMIM	1	175	4220	601146
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	GDF5 CL E G H	8200	610017	Multiple synostoses syndrome 2	610017	C1832708	OMIM	1	175	4220	601146
HP:0002948	HP:0002949	Fused cervical vertebrae	1	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0002948	HP:0003305	Block vertebrae	1	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0002948	HP:0004557	Anterior vertebral fusion	1	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0002948	HP:0004557	Anterior vertebral fusion	1	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0002948	HP:0002949	Fused cervical vertebrae	1	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0002948	HP:0003305	Block vertebrae	1	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0002948	HP:0002949	Fused cervical vertebrae	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0002948	HP:0003305	Block vertebrae	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0002948	HP:0004557	Anterior vertebral fusion	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0002948	HP:0004557	Anterior vertebral fusion	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	263	6556	604407
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	263	6556	604407
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	263	6556	604407
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	263	6556	604407
HP:0002948	HP:0002949	Fused cervical vertebrae	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	263	6556	604407
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	263	6556	604407
HP:0002948	HP:0003305	Block vertebrae	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	263	6556	604407
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	263	6556	604407
HP:0002948	HP:0004557	Anterior vertebral fusion	1	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	641	7573	160720
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	641	7573	160720
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	641	7573	160720
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	641	7573	160720
HP:0002948	HP:0002949	Fused cervical vertebrae	1	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	641	7573	160720
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	641	7573	160720
HP:0002948	HP:0003305	Block vertebrae	1	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	641	7573	160720
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	641	7573	160720
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0002948	HP:0002949	Fused cervical vertebrae	1	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0002948	HP:0003305	Block vertebrae	1	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0002948	HP:0004557	Anterior vertebral fusion	1	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	363	12766	602952
HP:0002948	HP:0002949	Fused cervical vertebrae	1	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	363	12766	602952
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	363	12766	602952
HP:0002948	HP:0003305	Block vertebrae	1	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	363	12766	602952
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	363	12766	602952
HP:0002948	HP:0004557	Anterior vertebral fusion	1	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	363	12766	602952
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	363	12766	602952
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	363	12766	602952
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	PTCH1 CL E G H	5727	377				ORPHA	1	3848	9585	601309
HP:0002948	HP:0002949	Fused cervical vertebrae	1	PTCH1 CL E G H	5727	377				ORPHA	1	3848	9585	601309
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	PTCH1 CL E G H	5727	377				ORPHA	1	3848	9585	601309
HP:0002948	HP:0003305	Block vertebrae	1	PTCH1 CL E G H	5727	377				ORPHA	1	3848	9585	601309
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	PTCH1 CL E G H	5727	377				ORPHA	1	3848	9585	601309
HP:0002948	HP:0004557	Anterior vertebral fusion	1	PTCH1 CL E G H	5727	377				ORPHA	1	3848	9585	601309
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	PTCH1 CL E G H	5727	377				ORPHA	1	3848	9585	601309
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	PTCH1 CL E G H	5727	377				ORPHA	1	3848	9585	601309
HP:0002948	HP:0004557	Anterior vertebral fusion	1	PTCH1 CL E G H	5727	109400	Gorlin syndrome	109400	C0004779	OMIM	1	3848	9585	601309
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	PTCH1 CL E G H	5727	109400	Gorlin syndrome	109400	C0004779	OMIM	1	3848	9585	601309
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	PTCH1 CL E G H	5727	109400	Gorlin syndrome	109400	C0004779	OMIM	1	3848	9585	601309
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	PTCH1 CL E G H	5727	109400	Gorlin syndrome	109400	C0004779	OMIM	1	3848	9585	601309
HP:0002948	HP:0002949	Fused cervical vertebrae	1	PTCH1 CL E G H	5727	109400	Gorlin syndrome	109400	C0004779	OMIM	1	3848	9585	601309
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	PTCH1 CL E G H	5727	109400	Gorlin syndrome	109400	C0004779	OMIM	1	3848	9585	601309
HP:0002948	HP:0003305	Block vertebrae	1	PTCH1 CL E G H	5727	109400	Gorlin syndrome	109400	C0004779	OMIM	1	3848	9585	601309
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	PTCH1 CL E G H	5727	109400	Gorlin syndrome	109400	C0004779	OMIM	1	3848	9585	601309
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	PTCH2 CL E G H	8643	377				ORPHA	1	617	9586	603673
HP:0002948	HP:0004557	Anterior vertebral fusion	1	PTCH2 CL E G H	8643	377				ORPHA	1	617	9586	603673
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	PTCH2 CL E G H	8643	377				ORPHA	1	617	9586	603673
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	PTCH2 CL E G H	8643	377				ORPHA	1	617	9586	603673
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	PTCH2 CL E G H	8643	377				ORPHA	1	617	9586	603673
HP:0002948	HP:0002949	Fused cervical vertebrae	1	PTCH2 CL E G H	8643	377				ORPHA	1	617	9586	603673
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	PTCH2 CL E G H	8643	377				ORPHA	1	617	9586	603673
HP:0002948	HP:0003305	Block vertebrae	1	PTCH2 CL E G H	8643	377				ORPHA	1	617	9586	603673
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	PTCH2 CL E G H	8643	109400	Gorlin syndrome	109400	C0004779	OMIM	1	617	9586	603673
HP:0002948	HP:0002949	Fused cervical vertebrae	1	PTCH2 CL E G H	8643	109400	Gorlin syndrome	109400	C0004779	OMIM	1	617	9586	603673
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	PTCH2 CL E G H	8643	109400	Gorlin syndrome	109400	C0004779	OMIM	1	617	9586	603673
HP:0002948	HP:0003305	Block vertebrae	1	PTCH2 CL E G H	8643	109400	Gorlin syndrome	109400	C0004779	OMIM	1	617	9586	603673
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	PTCH2 CL E G H	8643	109400	Gorlin syndrome	109400	C0004779	OMIM	1	617	9586	603673
HP:0002948	HP:0004557	Anterior vertebral fusion	1	PTCH2 CL E G H	8643	109400	Gorlin syndrome	109400	C0004779	OMIM	1	617	9586	603673
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	PTCH2 CL E G H	8643	109400	Gorlin syndrome	109400	C0004779	OMIM	1	617	9586	603673
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	PTCH2 CL E G H	8643	109400	Gorlin syndrome	109400	C0004779	OMIM	1	617	9586	603673
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	PUF60 CL E G H	22827	615583	Verheij syndrome	615583	C3810023	OMIM	1	190	17042	604819
HP:0002948	HP:0004557	Anterior vertebral fusion	1	PUF60 CL E G H	22827	615583	Verheij syndrome	615583	C3810023	OMIM	1	190	17042	604819
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	PUF60 CL E G H	22827	615583	Verheij syndrome	615583	C3810023	OMIM	1	190	17042	604819
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	PUF60 CL E G H	22827	615583	Verheij syndrome	615583	C3810023	OMIM	1	190	17042	604819
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	PUF60 CL E G H	22827	615583	Verheij syndrome	615583	C3810023	OMIM	1	190	17042	604819
HP:0002948	HP:0002949	Fused cervical vertebrae	1	PUF60 CL E G H	22827	615583	Verheij syndrome	615583	C3810023	OMIM	1	190	17042	604819
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	PUF60 CL E G H	22827	615583	Verheij syndrome	615583	C3810023	OMIM	1	190	17042	604819
HP:0002948	HP:0003305	Block vertebrae	1	PUF60 CL E G H	22827	615583	Verheij syndrome	615583	C3810023	OMIM	1	190	17042	604819
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	1	474	10257	602337
HP:0002948	HP:0002949	Fused cervical vertebrae	1	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	1	474	10257	602337
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	1	474	10257	602337
HP:0002948	HP:0003305	Block vertebrae	1	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	1	474	10257	602337
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	1	474	10257	602337
HP:0002948	HP:0004557	Anterior vertebral fusion	1	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	1	474	10257	602337
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	1	474	10257	602337
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	1	474	10257	602337
HP:0002948	HP:0002949	Fused cervical vertebrae	1	ROR2 CL E G H	4920	113000	Type B brachydactyly	113000	C1862112	OMIM	1	474	10257	602337
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	ROR2 CL E G H	4920	113000	Type B brachydactyly	113000	C1862112	OMIM	1	474	10257	602337
HP:0002948	HP:0003305	Block vertebrae	1	ROR2 CL E G H	4920	113000	Type B brachydactyly	113000	C1862112	OMIM	1	474	10257	602337
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	ROR2 CL E G H	4920	113000	Type B brachydactyly	113000	C1862112	OMIM	1	474	10257	602337
HP:0002948	HP:0004557	Anterior vertebral fusion	1	ROR2 CL E G H	4920	113000	Type B brachydactyly	113000	C1862112	OMIM	1	474	10257	602337
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	ROR2 CL E G H	4920	113000	Type B brachydactyly	113000	C1862112	OMIM	1	474	10257	602337
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	ROR2 CL E G H	4920	113000	Type B brachydactyly	113000	C1862112	OMIM	1	474	10257	602337
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	ROR2 CL E G H	4920	113000	Type B brachydactyly	113000	C1862112	OMIM	1	474	10257	602337
HP:0002948	HP:0004557	Anterior vertebral fusion	1	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	78	10892	606326
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	78	10892	606326
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	78	10892	606326
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	78	10892	606326
HP:0002948	HP:0002949	Fused cervical vertebrae	1	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	78	10892	606326
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	78	10892	606326
HP:0002948	HP:0003305	Block vertebrae	1	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	78	10892	606326
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	78	10892	606326
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	1	1739	6770	600993
HP:0002948	HP:0004557	Anterior vertebral fusion	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	1	1739	6770	600993
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	1	1739	6770	600993
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	1	1739	6770	600993
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	1	1739	6770	600993
HP:0002948	HP:0002949	Fused cervical vertebrae	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	1	1739	6770	600993
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	1	1739	6770	600993
HP:0002948	HP:0003305	Block vertebrae	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	1	1739	6770	600993
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	174	11195	184429
HP:0002948	HP:0002949	Fused cervical vertebrae	1	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	174	11195	184429
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	174	11195	184429
HP:0002948	HP:0003305	Block vertebrae	1	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	174	11195	184429
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	174	11195	184429
HP:0002948	HP:0004557	Anterior vertebral fusion	1	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	174	11195	184429
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	174	11195	184429
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	174	11195	184429
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	SOX5 CL E G H	6660	313892				ORPHA	1	205	11201	604975
HP:0002948	HP:0003305	Block vertebrae	1	SOX5 CL E G H	6660	313892				ORPHA	1	205	11201	604975
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	SOX5 CL E G H	6660	313892				ORPHA	1	205	11201	604975
HP:0002948	HP:0004557	Anterior vertebral fusion	1	SOX5 CL E G H	6660	313892				ORPHA	1	205	11201	604975
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	SOX5 CL E G H	6660	313892				ORPHA	1	205	11201	604975
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	SOX5 CL E G H	6660	313892				ORPHA	1	205	11201	604975
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	SOX5 CL E G H	6660	313892				ORPHA	1	205	11201	604975
HP:0002948	HP:0002949	Fused cervical vertebrae	1	SOX5 CL E G H	6660	313892				ORPHA	1	205	11201	604975
HP:0002948	HP:0002949	Fused cervical vertebrae	1	SUFU CL E G H	51684	377				ORPHA	1	1114	16466	607035
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	SUFU CL E G H	51684	377				ORPHA	1	1114	16466	607035
HP:0002948	HP:0003305	Block vertebrae	1	SUFU CL E G H	51684	377				ORPHA	1	1114	16466	607035
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	SUFU CL E G H	51684	377				ORPHA	1	1114	16466	607035
HP:0002948	HP:0004557	Anterior vertebral fusion	1	SUFU CL E G H	51684	377				ORPHA	1	1114	16466	607035
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	SUFU CL E G H	51684	377				ORPHA	1	1114	16466	607035
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	SUFU CL E G H	51684	377				ORPHA	1	1114	16466	607035
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	SUFU CL E G H	51684	377				ORPHA	1	1114	16466	607035
HP:0002948	HP:0004557	Anterior vertebral fusion	1	SUFU CL E G H	51684	109400	Gorlin syndrome	109400	C0004779	OMIM	1	1114	16466	607035
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	SUFU CL E G H	51684	109400	Gorlin syndrome	109400	C0004779	OMIM	1	1114	16466	607035
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	SUFU CL E G H	51684	109400	Gorlin syndrome	109400	C0004779	OMIM	1	1114	16466	607035
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	SUFU CL E G H	51684	109400	Gorlin syndrome	109400	C0004779	OMIM	1	1114	16466	607035
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	SUFU CL E G H	51684	109400	Gorlin syndrome	109400	C0004779	OMIM	1	1114	16466	607035
HP:0002948	HP:0002949	Fused cervical vertebrae	1	SUFU CL E G H	51684	109400	Gorlin syndrome	109400	C0004779	OMIM	1	1114	16466	607035
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	SUFU CL E G H	51684	109400	Gorlin syndrome	109400	C0004779	OMIM	1	1114	16466	607035
HP:0002948	HP:0003305	Block vertebrae	1	SUFU CL E G H	51684	109400	Gorlin syndrome	109400	C0004779	OMIM	1	1114	16466	607035
HP:0002948	HP:0004557	Anterior vertebral fusion	1	TBX6 CL E G H	6911	122600	Spondylocostal dysostosis 5	122600	C1852521	OMIM	1	394	11605	602427
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	TBX6 CL E G H	6911	122600	Spondylocostal dysostosis 5	122600	C1852521	OMIM	1	394	11605	602427
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	TBX6 CL E G H	6911	122600	Spondylocostal dysostosis 5	122600	C1852521	OMIM	1	394	11605	602427
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	TBX6 CL E G H	6911	122600	Spondylocostal dysostosis 5	122600	C1852521	OMIM	1	394	11605	602427
HP:0002948	HP:0002949	Fused cervical vertebrae	1	TBX6 CL E G H	6911	122600	Spondylocostal dysostosis 5	122600	C1852521	OMIM	1	394	11605	602427
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	TBX6 CL E G H	6911	122600	Spondylocostal dysostosis 5	122600	C1852521	OMIM	1	394	11605	602427
HP:0002948	HP:0003305	Block vertebrae	1	TBX6 CL E G H	6911	122600	Spondylocostal dysostosis 5	122600	C1852521	OMIM	1	394	11605	602427
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	TBX6 CL E G H	6911	122600	Spondylocostal dysostosis 5	122600	C1852521	OMIM	1	394	11605	602427
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0002948	HP:0004557	Anterior vertebral fusion	1	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0002948	HP:0002949	Fused cervical vertebrae	1	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0002948	HP:0003305	Block vertebrae	1	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	ANKRD11 CL E G H	29123	2332				ORPHA	1	1515	21316	611192
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	ANKRD11 CL E G H	29123	2332				ORPHA	1	1515	21316	611192
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	ANKRD11 CL E G H	29123	2332				ORPHA	1	1515	21316	611192
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	ANKRD11 CL E G H	29123	2332				ORPHA	1	1515	21316	611192
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	ANKRD11 CL E G H	29123	2332				ORPHA	1	1515	21316	611192
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1515	21316	611192
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1515	21316	611192
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1515	21316	611192
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1515	21316	611192
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1515	21316	611192
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	167	2309	605032
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	167	2309	605032
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	167	2309	605032
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	167	2309	605032
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	167	2309	605032
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	217	2494	602618
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	217	2494	602618
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	217	2494	602618
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	217	2494	602618
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	217	2494	602618
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	288	3693	605830
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	288	3693	605830
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	288	3693	605830
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	288	3693	605830
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	288	3693	605830
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	GDF5 CL E G H	8200	610017	Multiple synostoses syndrome 2	610017	C1832708	OMIM	1	175	4220	601146
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	GDF5 CL E G H	8200	610017	Multiple synostoses syndrome 2	610017	C1832708	OMIM	1	175	4220	601146
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	GDF5 CL E G H	8200	610017	Multiple synostoses syndrome 2	610017	C1832708	OMIM	1	175	4220	601146
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	GDF5 CL E G H	8200	610017	Multiple synostoses syndrome 2	610017	C1832708	OMIM	1	175	4220	601146
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	GDF5 CL E G H	8200	610017	Multiple synostoses syndrome 2	610017	C1832708	OMIM	1	175	4220	601146
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	263	6556	604407
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	263	6556	604407
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	263	6556	604407
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	263	6556	604407
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	263	6556	604407
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	641	7573	160720
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	641	7573	160720
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	641	7573	160720
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	641	7573	160720
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	641	7573	160720
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	363	12766	602952
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	363	12766	602952
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	363	12766	602952
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	363	12766	602952
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	363	12766	602952
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	PTCH1 CL E G H	5727	377				ORPHA	1	3848	9585	601309
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	PTCH1 CL E G H	5727	377				ORPHA	1	3848	9585	601309
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	PTCH1 CL E G H	5727	377				ORPHA	1	3848	9585	601309
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	PTCH1 CL E G H	5727	377				ORPHA	1	3848	9585	601309
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	PTCH1 CL E G H	5727	377				ORPHA	1	3848	9585	601309
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	PTCH1 CL E G H	5727	109400	Gorlin syndrome	109400	C0004779	OMIM	1	3848	9585	601309
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	PTCH1 CL E G H	5727	109400	Gorlin syndrome	109400	C0004779	OMIM	1	3848	9585	601309
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	PTCH1 CL E G H	5727	109400	Gorlin syndrome	109400	C0004779	OMIM	1	3848	9585	601309
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	PTCH1 CL E G H	5727	109400	Gorlin syndrome	109400	C0004779	OMIM	1	3848	9585	601309
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	PTCH1 CL E G H	5727	109400	Gorlin syndrome	109400	C0004779	OMIM	1	3848	9585	601309
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	PTCH2 CL E G H	8643	377				ORPHA	1	617	9586	603673
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	PTCH2 CL E G H	8643	377				ORPHA	1	617	9586	603673
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	PTCH2 CL E G H	8643	377				ORPHA	1	617	9586	603673
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	PTCH2 CL E G H	8643	377				ORPHA	1	617	9586	603673
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	PTCH2 CL E G H	8643	377				ORPHA	1	617	9586	603673
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	PTCH2 CL E G H	8643	109400	Gorlin syndrome	109400	C0004779	OMIM	1	617	9586	603673
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	PTCH2 CL E G H	8643	109400	Gorlin syndrome	109400	C0004779	OMIM	1	617	9586	603673
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	PTCH2 CL E G H	8643	109400	Gorlin syndrome	109400	C0004779	OMIM	1	617	9586	603673
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	PTCH2 CL E G H	8643	109400	Gorlin syndrome	109400	C0004779	OMIM	1	617	9586	603673
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	PTCH2 CL E G H	8643	109400	Gorlin syndrome	109400	C0004779	OMIM	1	617	9586	603673
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	PUF60 CL E G H	22827	615583	Verheij syndrome	615583	C3810023	OMIM	1	190	17042	604819
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	PUF60 CL E G H	22827	615583	Verheij syndrome	615583	C3810023	OMIM	1	190	17042	604819
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	PUF60 CL E G H	22827	615583	Verheij syndrome	615583	C3810023	OMIM	1	190	17042	604819
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	PUF60 CL E G H	22827	615583	Verheij syndrome	615583	C3810023	OMIM	1	190	17042	604819
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	PUF60 CL E G H	22827	615583	Verheij syndrome	615583	C3810023	OMIM	1	190	17042	604819
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	1	474	10257	602337
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	1	474	10257	602337
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	1	474	10257	602337
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	1	474	10257	602337
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	1	474	10257	602337
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	ROR2 CL E G H	4920	113000	Type B brachydactyly	113000	C1862112	OMIM	1	474	10257	602337
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	ROR2 CL E G H	4920	113000	Type B brachydactyly	113000	C1862112	OMIM	1	474	10257	602337
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	ROR2 CL E G H	4920	113000	Type B brachydactyly	113000	C1862112	OMIM	1	474	10257	602337
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	ROR2 CL E G H	4920	113000	Type B brachydactyly	113000	C1862112	OMIM	1	474	10257	602337
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	ROR2 CL E G H	4920	113000	Type B brachydactyly	113000	C1862112	OMIM	1	474	10257	602337
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	78	10892	606326
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	78	10892	606326
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	78	10892	606326
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	78	10892	606326
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	78	10892	606326
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	1	1739	6770	600993
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	1	1739	6770	600993
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	1	1739	6770	600993
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	1	1739	6770	600993
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	1	1739	6770	600993
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	174	11195	184429
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	174	11195	184429
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	174	11195	184429
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	174	11195	184429
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	174	11195	184429
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	SOX5 CL E G H	6660	313892				ORPHA	1	205	11201	604975
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	SOX5 CL E G H	6660	313892				ORPHA	1	205	11201	604975
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	SOX5 CL E G H	6660	313892				ORPHA	1	205	11201	604975
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	SOX5 CL E G H	6660	313892				ORPHA	1	205	11201	604975
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	SOX5 CL E G H	6660	313892				ORPHA	1	205	11201	604975
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	SUFU CL E G H	51684	377				ORPHA	1	1114	16466	607035
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	SUFU CL E G H	51684	377				ORPHA	1	1114	16466	607035
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	SUFU CL E G H	51684	377				ORPHA	1	1114	16466	607035
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	SUFU CL E G H	51684	377				ORPHA	1	1114	16466	607035
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	SUFU CL E G H	51684	377				ORPHA	1	1114	16466	607035
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	SUFU CL E G H	51684	109400	Gorlin syndrome	109400	C0004779	OMIM	1	1114	16466	607035
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	SUFU CL E G H	51684	109400	Gorlin syndrome	109400	C0004779	OMIM	1	1114	16466	607035
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	SUFU CL E G H	51684	109400	Gorlin syndrome	109400	C0004779	OMIM	1	1114	16466	607035
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	SUFU CL E G H	51684	109400	Gorlin syndrome	109400	C0004779	OMIM	1	1114	16466	607035
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	SUFU CL E G H	51684	109400	Gorlin syndrome	109400	C0004779	OMIM	1	1114	16466	607035
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	TBX6 CL E G H	6911	122600	Spondylocostal dysostosis 5	122600	C1852521	OMIM	1	394	11605	602427
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	TBX6 CL E G H	6911	122600	Spondylocostal dysostosis 5	122600	C1852521	OMIM	1	394	11605	602427
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	TBX6 CL E G H	6911	122600	Spondylocostal dysostosis 5	122600	C1852521	OMIM	1	394	11605	602427
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	TBX6 CL E G H	6911	122600	Spondylocostal dysostosis 5	122600	C1852521	OMIM	1	394	11605	602427
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	TBX6 CL E G H	6911	122600	Spondylocostal dysostosis 5	122600	C1852521	OMIM	1	394	11605	602427
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002948	HP:0002948	Vertebral fusion	0	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	0	1218	24565	612452
HP:0002948	HP:0002948	Vertebral fusion	0	SALL4 CL E G H	57167	959				ORPHA	0	211	15924	607343
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	0	1218	24565	612452
HP:0002948	HP:0002949	Fused cervical vertebrae	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	0	1218	24565	612452
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	0	1218	24565	612452
HP:0002948	HP:0003305	Block vertebrae	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	0	1218	24565	612452
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	0	1218	24565	612452
HP:0002948	HP:0004557	Anterior vertebral fusion	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	0	1218	24565	612452
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	0	1218	24565	612452
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	0	1218	24565	612452
HP:0002948	HP:0004557	Anterior vertebral fusion	1	SALL4 CL E G H	57167	959				ORPHA	0	211	15924	607343
HP:0002948	HP:0030040	Fused lumbar vertebrae	1	SALL4 CL E G H	57167	959				ORPHA	0	211	15924	607343
HP:0002948	HP:0005640	Abnormal vertebral segmentation and fusion	1	SALL4 CL E G H	57167	959				ORPHA	0	211	15924	607343
HP:0002948	HP:0030125	Sacralization of the fifth lumbar vertebra	1	SALL4 CL E G H	57167	959				ORPHA	0	211	15924	607343
HP:0002948	HP:0002949	Fused cervical vertebrae	1	SALL4 CL E G H	57167	959				ORPHA	0	211	15924	607343
HP:0002948	HP:0005626	Posterior fusion of lumbosacral vertebrae	1	SALL4 CL E G H	57167	959				ORPHA	0	211	15924	607343
HP:0002948	HP:0003305	Block vertebrae	1	SALL4 CL E G H	57167	959				ORPHA	0	211	15924	607343
HP:0002948	HP:0030039	Fused thoracic vertebrae	1	SALL4 CL E G H	57167	959				ORPHA	0	211	15924	607343
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	0	1218	24565	612452
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	0	1218	24565	612452
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	0	1218	24565	612452
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	0	1218	24565	612452
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	0	1218	24565	612452
HP:0002948	HP:0030281	Cervical C3/C4 vertebral fusion	2	SALL4 CL E G H	57167	959				ORPHA	0	211	15924	607343
HP:0002948	HP:0004602	Cervical C2/C3 vertebral fusion	2	SALL4 CL E G H	57167	959				ORPHA	0	211	15924	607343
HP:0002948	HP:0008449	Progressive cervical vertebral spine fusion	2	SALL4 CL E G H	57167	959				ORPHA	0	211	15924	607343
HP:0002948	HP:0004575	Fusion of midcervical facet joints	2	SALL4 CL E G H	57167	959				ORPHA	0	211	15924	607343
HP:0002948	HP:0004635	Cervical C5/C6 vertebrae fusion	2	SALL4 CL E G H	57167	959				ORPHA	0	211	15924	607343