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:0002949	HP:0002949	Fused cervical vertebrae	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0002949	HP:0002949	Fused cervical vertebrae	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0002949	HP:0002949	Fused cervical vertebrae	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0002949	HP:0002949	Fused cervical vertebrae	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0002949	HP:0002949	Fused cervical vertebrae	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:0002949	HP:0002949	Fused cervical vertebrae	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0002949	HP:0002949	Fused cervical vertebrae	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0002949	HP:0002949	Fused cervical vertebrae	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0002949	HP:0002949	Fused cervical vertebrae	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0002949	HP:0002949	Fused cervical vertebrae	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0002949	HP:0002949	Fused cervical vertebrae	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040283 - Occasional	284
HP:0002949	HP:0002949	Fused cervical vertebrae	0	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare	36
HP:0002949	HP:0002949	Fused cervical vertebrae	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0002949	HP:0002949	Fused cervical vertebrae	0	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare	2
HP:0002949	HP:0002949	Fused cervical vertebrae	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151
HP:0002949	HP:0002949	Fused cervical vertebrae	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0002949	HP:0002949	Fused cervical vertebrae	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0002949	HP:0002949	Fused cervical vertebrae	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome		175
HP:0002949	HP:0002949	Fused cervical vertebrae	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0002949	HP:0002949	Fused cervical vertebrae	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0002949	HP:0002949	Fused cervical vertebrae	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0002949	HP:0002949	Fused cervical vertebrae	0	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome		7
HP:0002949	HP:0002949	Fused cervical vertebrae	0	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant		7
HP:0002949	HP:0002949	Fused cervical vertebrae	0	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome		64
HP:0002949	HP:0002949	Fused cervical vertebrae	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0002949	HP:0002949	Fused cervical vertebrae	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0002949	HP:0002949	Fused cervical vertebrae	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0002949	HP:0002949	Fused cervical vertebrae	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0002949	HP:0002949	Fused cervical vertebrae	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0002949	HP:0002949	Fused cervical vertebrae	0	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome		5
HP:0002949	HP:0002949	Fused cervical vertebrae	0	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.	5
HP:0002949	HP:0002949	Fused cervical vertebrae	0	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B		166
HP:0002949	HP:0002949	Fused cervical vertebrae	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0002949	HP:0002949	Fused cervical vertebrae	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0002949	HP:0002949	Fused cervical vertebrae	0	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare
HP:0002949	HP:0002949	Fused cervical vertebrae	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0002949	HP:0002949	Fused cervical vertebrae	0	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare	9
HP:0002949	HP:0002949	Fused cervical vertebrae	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10
HP:0002949	HP:0002949	Fused cervical vertebrae	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0002949	HP:0002949	Fused cervical vertebrae	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0002949	HP:0002949	Fused cervical vertebrae	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0002949	HP:0004575	Fusion of midcervical facet joints	1	CL E G H
HP:0002949	HP:0008449	Progressive cervical vertebral spine fusion	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0002949	HP:0004602	Cervical C2/C3 vertebral fusion	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0002949	HP:0004602	Cervical C2/C3 vertebral fusion	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0002949	HP:0004602	Cervical C2/C3 vertebral fusion	1	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:0002949	HP:0004602	Cervical C2/C3 vertebral fusion	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0002949	HP:0004602	Cervical C2/C3 vertebral fusion	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0002949	HP:0004602	Cervical C2/C3 vertebral fusion	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0002949	HP:0004602	Cervical C2/C3 vertebral fusion	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0002949	HP:0004635	Cervical C5/C6 vertebrae fusion	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0002949	HP:0004635	Cervical C5/C6 vertebrae fusion	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent	175
HP:0002949	HP:0004602	Cervical C2/C3 vertebral fusion	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0002949	HP:0004602	Cervical C2/C3 vertebral fusion	1	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent	7
HP:0002949	HP:0004635	Cervical C5/C6 vertebrae fusion	1	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant	.	7
HP:0002949	HP:0030281	Cervical C3/C4 vertebral fusion	1	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant		7
HP:0002949	HP:0004602	Cervical C2/C3 vertebral fusion	1	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent	64
HP:0002949	HP:0004602	Cervical C2/C3 vertebral fusion	1	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0002949	HP:0004602	Cervical C2/C3 vertebral fusion	1	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040281 - Very frequent	5
HP:0002949	HP:0004602	Cervical C2/C3 vertebral fusion	1	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.	5
HP:0002949	HP:0004602	Cervical C2/C3 vertebral fusion	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5