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:0005986	HP:0005986	Limitation of neck motion	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0005986	HP:0005986	Limitation of neck motion	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine		239
HP:0005986	HP:0005986	Limitation of neck motion	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine		449
HP:0005986	HP:0005986	Limitation of neck motion	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type		284
HP:0005986	HP:0005986	Limitation of neck motion	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive		478
HP:0005986	HP:0005986	Limitation of neck motion	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0005986	HP:0005986	Limitation of neck motion	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18		18
HP:0005986	HP:0005986	Limitation of neck motion	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0005986	HP:0005986	Limitation of neck motion	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome		134
HP:0005986	HP:0005986	Limitation of neck motion	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome		139
HP:0005986	HP:0005986	Limitation of neck motion	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0005986	HP:0005986	Limitation of neck motion	0	IRF3 CL E G H	3661	6118	OMIM:616532	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7		1
HP:0005986	HP:0005986	Limitation of neck motion	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0005986	HP:0005986	Limitation of neck motion	0	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive		5
HP:0005986	HP:0005986	Limitation of neck motion	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0005986	HP:0005986	Limitation of neck motion	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy		1269
HP:0005986	HP:0005986	Limitation of neck motion	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0005986	HP:0005986	Limitation of neck motion	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0005986	HP:0005986	Limitation of neck motion	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly		96
HP:0005986	HP:0005986	Limitation of neck motion	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0005986	HP:0005986	Limitation of neck motion	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0005986	HP:0005986	Limitation of neck motion	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0005986	HP:0005986	Limitation of neck motion	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome		225
HP:0005986	HP:0005986	Limitation of neck motion	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine		94
HP:0005986	HP:0005986	Limitation of neck motion	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome		1053
HP:0005986	HP:0005986	Limitation of neck motion	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine		1053
HP:0005986	HP:0005986	Limitation of neck motion	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome		126
HP:0005986	HP:0005986	Limitation of neck motion	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome		427
HP:0005986	HP:0005986	Limitation of neck motion	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome		318
HP:0005986	HP:0005986	Limitation of neck motion	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy		144
HP:0005986	HP:0005986	Limitation of neck motion	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0005986	HP:0005986	Limitation of neck motion	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis		20
HP:0005986	HP:0005986	Limitation of neck motion	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis		6
HP:0005986	HP:0005986	Limitation of neck motion	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis		3
HP:0005986	HP:0005986	Limitation of neck motion	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis		2
HP:0005986	HP:0005986	Limitation of neck motion	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy		7128
HP:0005986	HP:0005986	Limitation of neck motion	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis		5
HP:0005986	HP:0033481	Limited lateral neck flexion	1	CL E G H
HP:0005986	HP:0033453	Limited neck extension	1	CL E G H
HP:0005986	HP:0031179	Nuchal rigidity	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	239
HP:0005986	HP:0031179	Nuchal rigidity	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	449
HP:0005986	HP:0025258	Stiff neck	1	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.	284
HP:0005986	HP:0005997	Neck joint contracture	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.	478
HP:0005986	HP:0025258	Stiff neck	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0005986	HP:0005997	Neck joint contracture	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional	18
HP:0005986	HP:0005991	Limited neck flexion	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0005986	HP:0000466	Limited neck range of motion	1	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0005986	HP:0000466	Limited neck range of motion	1	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0005986	HP:0000466	Limited neck range of motion	1	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0005986	HP:0031179	Nuchal rigidity	1	IRF3 CL E G H	3661	6118	OMIM:616532	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7	.	1
HP:0005986	HP:0005997	Neck joint contracture	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0005986	HP:0000466	Limited neck range of motion	1	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.	5
HP:0005986	HP:0005997	Neck joint contracture	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0005986	HP:0005991	Limited neck flexion	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	1269
HP:0005986	HP:0005991	Limited neck flexion	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0005986	HP:0033357	Limited head rotation	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0005986	HP:0000466	Limited neck range of motion	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0005986	HP:0025258	Stiff neck	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96
HP:0005986	HP:0025258	Stiff neck	1	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0005986	HP:0025258	Stiff neck	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.	9
HP:0005986	HP:0000466	Limited neck range of motion	1	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0005986	HP:0000466	Limited neck range of motion	1	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0005986	HP:0031179	Nuchal rigidity	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	94
HP:0005986	HP:0000466	Limited neck range of motion	1	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0005986	HP:0031179	Nuchal rigidity	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	1053
HP:0005986	HP:0000466	Limited neck range of motion	1	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0005986	HP:0000466	Limited neck range of motion	1	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0005986	HP:0000466	Limited neck range of motion	1	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318
HP:0005986	HP:0005991	Limited neck flexion	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	144
HP:0005986	HP:0005991	Limited neck flexion	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0005986	HP:0031179	Nuchal rigidity	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	20
HP:0005986	HP:0031179	Nuchal rigidity	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	6
HP:0005986	HP:0031179	Nuchal rigidity	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	3
HP:0005986	HP:0031179	Nuchal rigidity	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	2
HP:0005986	HP:0005991	Limited neck flexion	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	7128
HP:0005986	HP:0031179	Nuchal rigidity	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	5