Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Limb joint contracture (HP:0003121)

Parent Node:
Limited hip movement (HP:0008800)

Parent Node:
Lower-limb joint contracture (HP:0005750)

..Starting node
..Hip contracture (HP:0003273)

Term ID:

3273

Name:

Hip contracture

Synonym:

Flexion contracture of hips; Flexion contractures of hips; Hip contractures; Hip flexion contractures

Definition:

Comments:

Reference:

HP:0003273

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adductor longus contractures (HP:0006366)

Ankle flexion contracture (HP:0006466)

Congenital foot contractures (HP:0005745)

Foot joint contracture (HP:0008366)

Hamstring contractures (HP:0003089)

Knee flexion contracture (HP:0006380)

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:0003273	HP:0003273	Hip contracture	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0003273	HP:0003273	Hip contracture	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		96
HP:0003273	HP:0003273	Hip contracture	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0003273	HP:0003273	Hip contracture	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	HP:0040283 - Occasional		46
HP:0003273	HP:0003273	Hip contracture	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0003273	HP:0003273	Hip contracture	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0003273	HP:0003273	Hip contracture	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0003273	HP:0003273	Hip contracture	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003273	HP:0003273	Hip contracture	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0003273	HP:0003273	Hip contracture	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0003273	HP:0003273	Hip contracture	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040284 - Very rare		303
HP:0003273	HP:0003273	Hip contracture	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003273	HP:0003273	Hip contracture	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	HP:0003577 - Congenital onset	61
HP:0003273	HP:0003273	Hip contracture	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003273	HP:0003273	Hip contracture	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003273	HP:0003273	Hip contracture	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0003273	HP:0003273	Hip contracture	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0003273	HP:0003273	Hip contracture	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003273	HP:0003273	Hip contracture	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0003273	HP:0003273	Hip contracture	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0003273	HP:0003273	Hip contracture	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0003273	HP:0003273	Hip contracture	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0003273	HP:0003273	Hip contracture	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent		141
HP:0003273	HP:0003273	Hip contracture	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0003273	HP:0003273	Hip contracture	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0003273	HP:0003273	Hip contracture	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.		11
HP:0003273	HP:0003273	Hip contracture	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0003273	HP:0003273	Hip contracture	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0003273	HP:0003273	Hip contracture	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	HP:0040283 - Occasional		166
HP:0003273	HP:0003273	Hip contracture	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003273	HP:0003273	Hip contracture	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003273	HP:0003273	Hip contracture	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0003273	HP:0003273	Hip contracture	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0003273	HP:0003273	Hip contracture	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		48
HP:0003273	HP:0003273	Hip contracture	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0003273	HP:0003273	Hip contracture	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0003273	HP:0003273	Hip contracture	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0003273	HP:0003273	Hip contracture	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0003273	HP:0003273	Hip contracture	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003273	HP:0003273	Hip contracture	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional		60
HP:0003273	HP:0003273	Hip contracture	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.		58
HP:0003273	HP:0003273	Hip contracture	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0003273	HP:0003273	Hip contracture	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0003273	HP:0003273	Hip contracture	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.		15
HP:0003273	HP:0003273	Hip contracture	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0003273	HP:0003273	Hip contracture	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0003273	HP:0003273	Hip contracture	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0003273	HP:0003273	Hip contracture	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0003273	HP:0003273	Hip contracture	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		144
HP:0003273	HP:0003273	Hip contracture	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0003273	HP:0003273	Hip contracture	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0003273	HP:0003273	Hip contracture	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.		166
HP:0003273	HP:0003273	Hip contracture	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine	.		4
HP:0003273	HP:0003273	Hip contracture	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0003273	HP:0003273	Hip contracture	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.		20
HP:0003273	HP:0003273	Hip contracture	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0003273	HP:0003273	Hip contracture	0	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy	HP:0040282 - Frequent		37
HP:0003273	HP:0003273	Hip contracture	0	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0003273	HP:0003273	Hip contracture	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0003273	HP:0003273	Hip contracture	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0003273	HP:0003273	Hip contracture	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0003273	HP:0003273	Hip contracture	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0003273	HP:0003273	Hip contracture	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0003273	HP:0003273	Hip contracture	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0003273	HP:0003273	Hip contracture	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	HP:0040283 - Occasional		23
HP:0003273	HP:0003273	Hip contracture	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		23
HP:0003273	HP:0003273	Hip contracture	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent		17
HP:0003273	HP:0003273	Hip contracture	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0003273	HP:0003273	Hip contracture	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19

Genes (56) :ACTA1 APC2 BICD2 BIN1 COL25A1 COL2A1 ERCC8 ERGIC1 ERLIN2 F8 FBN2 FKBP10 GARS1 GNB2 GNPTAB HACD1 HS2ST1 HSPG2 ITGA7 KAT6B LGI4 MAP3K20 MAP3K7 MMP2 MYH3 MYL1 MYL11 MYL2 NALCN NSD1 P4HTM PI4KA PIGA PIGY PNPT1 PTH1R RMRP RNU4ATAC RYR1 SCYL2 SELENON SETD2 SLC10A7 SLC26A2 SLC6A9 SPEG TELO2 TNNT1 TPM2 TPM3 TRPV4 TTN UBA1 UNC80 ZBTB20 ZC4H2

Diseases (53) :ORPHA:2020 ORPHA:97244 ORPHA:821 OMIM:615290 ORPHA:169186 ORPHA:1143 OMIM:156550 OMIM:216400 ORPHA:209951 ORPHA:169805 OMIM:121050 OMIM:259450 OMIM:619042 OMIM:619503 ORPHA:576 OMIM:619194 ORPHA:800 OMIM:255800 OMIM:606170 ORPHA:85201 OMIM:617468 OMIM:617137 OMIM:259600 OMIM:193700 OMIM:178110 OMIM:618414 OMIM:619110 OMIM:616266 ORPHA:371364 OMIM:618493 OMIM:619621 OMIM:300868 OMIM:616809 ORPHA:319514 OMIM:156400 OMIM:607095 OMIM:210710 OMIM:616651 ORPHA:353298 OMIM:618363 OMIM:222600 OMIM:617301 OMIM:615959 ORPHA:488642 ORPHA:98902 OMIM:605355 OMIM:108120 OMIM:600175 ORPHA:1145 OMIM:616801 ORPHA:3042 OMIM:259050 OMIM:301041

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen