Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008800	HP:0008800	Limited hip movement	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0008800	HP:0008800	Limited hip movement	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome			96
HP:0008800	HP:0008800	Limited hip movement	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0008800	HP:0008800	Limited hip movement	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0008800	HP:0008800	Limited hip movement	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0008800	HP:0008800	Limited hip movement	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0008800	HP:0008800	Limited hip movement	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0008800	HP:0008800	Limited hip movement	0	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent		284
HP:0008800	HP:0008800	Limited hip movement	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0008800	HP:0008800	Limited hip movement	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040283 - Occasional		284
HP:0008800	HP:0008800	Limited hip movement	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.		284
HP:0008800	HP:0008800	Limited hip movement	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.		89
HP:0008800	HP:0008800	Limited hip movement	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0008800	HP:0008800	Limited hip movement	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0008800	HP:0008800	Limited hip movement	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0008800	HP:0008800	Limited hip movement	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040284 - Very rare		600
HP:0008800	HP:0008800	Limited hip movement	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0008800	HP:0008800	Limited hip movement	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0008800	HP:0008800	Limited hip movement	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0008800	HP:0008800	Limited hip movement	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		96
HP:0008800	HP:0008800	Limited hip movement	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		102
HP:0008800	HP:0008800	Limited hip movement	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A			303
HP:0008800	HP:0008800	Limited hip movement	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0008800	HP:0008800	Limited hip movement	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0008800	HP:0008800	Limited hip movement	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0008800	HP:0008800	Limited hip movement	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0008800	HP:0008800	Limited hip movement	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0008800	HP:0008800	Limited hip movement	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0008800	HP:0008800	Limited hip movement	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.		99
HP:0008800	HP:0008800	Limited hip movement	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0008800	HP:0008800	Limited hip movement	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0008800	HP:0008800	Limited hip movement	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0008800	HP:0008800	Limited hip movement	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0008800	HP:0008800	Limited hip movement	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0008800	HP:0008800	Limited hip movement	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0008800	HP:0008800	Limited hip movement	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0008800	HP:0008800	Limited hip movement	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0008800	HP:0008800	Limited hip movement	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0008800	HP:0008800	Limited hip movement	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0008800	HP:0008800	Limited hip movement	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0008800	HP:0008800	Limited hip movement	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0008800	HP:0008800	Limited hip movement	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0008800	HP:0008800	Limited hip movement	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional		32
HP:0008800	HP:0008800	Limited hip movement	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0008800	HP:0008800	Limited hip movement	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0008800	HP:0008800	Limited hip movement	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0008800	HP:0008800	Limited hip movement	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional		1269
HP:0008800	HP:0008800	Limited hip movement	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0008800	HP:0008800	Limited hip movement	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0008800	HP:0008800	Limited hip movement	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0008800	HP:0008800	Limited hip movement	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0008800	HP:0008800	Limited hip movement	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0008800	HP:0008800	Limited hip movement	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0008800	HP:0008800	Limited hip movement	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040282 - Frequent		117
HP:0008800	HP:0008800	Limited hip movement	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0008800	HP:0008800	Limited hip movement	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0008800	HP:0008800	Limited hip movement	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0008800	HP:0008800	Limited hip movement	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0008800	HP:0008800	Limited hip movement	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0008800	HP:0008800	Limited hip movement	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0008800	HP:0008800	Limited hip movement	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0008800	HP:0008800	Limited hip movement	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent		58
HP:0008800	HP:0008800	Limited hip movement	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0008800	HP:0008800	Limited hip movement	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0008800	HP:0008800	Limited hip movement	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0008800	HP:0008800	Limited hip movement	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0008800	HP:0008800	Limited hip movement	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0008800	HP:0008800	Limited hip movement	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0008800	HP:0008800	Limited hip movement	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0008800	HP:0008800	Limited hip movement	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0008800	HP:0008800	Limited hip movement	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome			144
HP:0008800	HP:0008800	Limited hip movement	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0008800	HP:0008800	Limited hip movement	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0008800	HP:0008800	Limited hip movement	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0008800	HP:0008800	Limited hip movement	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0008800	HP:0008800	Limited hip movement	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0008800	HP:0008800	Limited hip movement	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0008800	HP:0008800	Limited hip movement	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0008800	HP:0008800	Limited hip movement	0	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy			37
HP:0008800	HP:0008800	Limited hip movement	0	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0008800	HP:0008800	Limited hip movement	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0008800	HP:0008800	Limited hip movement	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0008800	HP:0008800	Limited hip movement	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0008800	HP:0008800	Limited hip movement	0	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent		214
HP:0008800	HP:0008800	Limited hip movement	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0008800	HP:0008800	Limited hip movement	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0008800	HP:0008800	Limited hip movement	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent		7128
HP:0008800	HP:0008800	Limited hip movement	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0008800	HP:0008800	Limited hip movement	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0008800	HP:0008800	Limited hip movement	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0008800	HP:0008800	Limited hip movement	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0008800	HP:0008800	Limited hip movement	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0008800	HP:0008800	Limited hip movement	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0008800	HP:0008800	Limited hip movement	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0008800	HP:0003273	Hip contracture	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0008800	HP:0003273	Hip contracture	1	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		96
HP:0008800	HP:0003273	Hip contracture	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0008800	HP:0003273	Hip contracture	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	HP:0040283 - Occasional		46
HP:0008800	HP:0003273	Hip contracture	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0008800	HP:0003184	Decreased hip abduction	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0008800	HP:0003093	Limited hip extension	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0008800	HP:0003273	Hip contracture	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0008800	HP:0003273	Hip contracture	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0008800	HP:0003093	Limited hip extension	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0008800	HP:0003093	Limited hip extension	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional		89
HP:0008800	HP:0003093	Limited hip extension	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.		108
HP:0008800	HP:0003273	Hip contracture	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0008800	HP:0003273	Hip contracture	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0008800	HP:0003273	Hip contracture	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0008800	HP:0003273	Hip contracture	1	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040284 - Very rare		303
HP:0008800	HP:0003273	Hip contracture	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0008800	HP:0003093	Limited hip extension	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.		145
HP:0008800	HP:0003273	Hip contracture	1	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	HP:0003577 - Congenital onset	61
HP:0008800	HP:0003273	Hip contracture	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0008800	HP:0003273	Hip contracture	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0008800	HP:0003273	Hip contracture	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0008800	HP:0003273	Hip contracture	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0008800	HP:0003273	Hip contracture	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0008800	HP:0003273	Hip contracture	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0008800	HP:0003273	Hip contracture	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0008800	HP:0003273	Hip contracture	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0008800	HP:0003273	Hip contracture	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0008800	HP:0003273	Hip contracture	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent		141
HP:0008800	HP:0003093	Limited hip extension	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0008800	HP:0003273	Hip contracture	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0008800	HP:0003273	Hip contracture	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0008800	HP:0003273	Hip contracture	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.		11
HP:0008800	HP:0003184	Decreased hip abduction	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional		32
HP:0008800	HP:0003273	Hip contracture	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0008800	HP:0003273	Hip contracture	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0008800	HP:0003273	Hip contracture	1	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	HP:0040283 - Occasional		166
HP:0008800	HP:0003273	Hip contracture	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0008800	HP:0003273	Hip contracture	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0008800	HP:0003273	Hip contracture	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0008800	HP:0003273	Hip contracture	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0008800	HP:0003273	Hip contracture	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		48
HP:0008800	HP:0003184	Decreased hip abduction	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0008800	HP:0003273	Hip contracture	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0008800	HP:0003273	Hip contracture	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0008800	HP:0003273	Hip contracture	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0008800	HP:0003184	Decreased hip abduction	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0008800	HP:0003273	Hip contracture	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0008800	HP:0003273	Hip contracture	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0008800	HP:0003273	Hip contracture	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional		60
HP:0008800	HP:0003273	Hip contracture	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.		58
HP:0008800	HP:0003273	Hip contracture	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0008800	HP:0003273	Hip contracture	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0008800	HP:0003273	Hip contracture	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0008800	HP:0003273	Hip contracture	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.		15
HP:0008800	HP:0003273	Hip contracture	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0008800	HP:0003273	Hip contracture	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0008800	HP:0003273	Hip contracture	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0008800	HP:0003273	Hip contracture	1	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		144
HP:0008800	HP:0003273	Hip contracture	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0008800	HP:0003273	Hip contracture	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0008800	HP:0003273	Hip contracture	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.		166
HP:0008800	HP:0003273	Hip contracture	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine	.		4
HP:0008800	HP:0003273	Hip contracture	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0008800	HP:0003273	Hip contracture	1	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.		20
HP:0008800	HP:0003273	Hip contracture	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0008800	HP:0003273	Hip contracture	1	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy	HP:0040282 - Frequent		37
HP:0008800	HP:0003273	Hip contracture	1	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0008800	HP:0003184	Decreased hip abduction	1	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0008800	HP:0003184	Decreased hip abduction	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0008800	HP:0003273	Hip contracture	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0008800	HP:0003273	Hip contracture	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0008800	HP:0003273	Hip contracture	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0008800	HP:0003273	Hip contracture	1	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0008800	HP:0003273	Hip contracture	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0008800	HP:0003273	Hip contracture	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0008800	HP:0003273	Hip contracture	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	HP:0040283 - Occasional		23
HP:0008800	HP:0003273	Hip contracture	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		23
HP:0008800	HP:0003273	Hip contracture	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent		17
HP:0008800	HP:0003273	Hip contracture	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0008800	HP:0003273	Hip contracture	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19