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:
Abnormal skeletal muscle morphology (HP:0011805)

Grandparent Node:
Abnormal tendon morphology (HP:0100261)

Grandparent Node:
Abnormality of connective tissue (HP:0003549)

Grandparent Node:
Abnormality of joint mobility (HP:0011729)

Parent Node:
Flexion contracture (HP:0001371)

..Starting node
..Multiple joint contractures (HP:0002828)

Term ID:

2828

Name:

Multiple joint contractures

Synonym:

Definition:

Comments:

Reference:

HP:0002828

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital contracture (HP:0002803)

Contractures of the large joints (HP:0005781)

Decreased cervical spine flexion due to contractures of posterior cervical muscles (HP:0004631)

Flexion contracture of digit (HP:0030044)

Limb joint contracture (HP:0003121)

Neck joint contracture (HP:0005997)

obsolete Joint contractures involving the joints of the feet (HP:0100492)

Progressive flexion contractures (HP:0005876)

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:0002828	HP:0002828	Multiple joint contractures	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0002828	HP:0002828	Multiple joint contractures	0	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15		12
HP:0002828	HP:0002828	Multiple joint contractures	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	38
HP:0002828	HP:0002828	Multiple joint contractures	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002828	HP:0002828	Multiple joint contractures	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0002828	HP:0002828	Multiple joint contractures	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	65
HP:0002828	HP:0002828	Multiple joint contractures	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0002828	HP:0002828	Multiple joint contractures	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	442
HP:0002828	HP:0002828	Multiple joint contractures	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	478
HP:0002828	HP:0002828	Multiple joint contractures	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	702
HP:0002828	HP:0002828	Multiple joint contractures	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0002828	HP:0002828	Multiple joint contractures	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	91
HP:0002828	HP:0002828	Multiple joint contractures	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0002828	HP:0002828	Multiple joint contractures	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0002828	HP:0002828	Multiple joint contractures	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0002828	HP:0002828	Multiple joint contractures	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	157
HP:0002828	HP:0002828	Multiple joint contractures	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0002828	HP:0002828	Multiple joint contractures	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040281 - Very frequent
HP:0002828	HP:0002828	Multiple joint contractures	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	34
HP:0002828	HP:0002828	Multiple joint contractures	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040281 - Very frequent
HP:0002828	HP:0002828	Multiple joint contractures	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0002828	HP:0002828	Multiple joint contractures	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002828	HP:0002828	Multiple joint contractures	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0002828	HP:0002828	Multiple joint contractures	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0002828	HP:0002828	Multiple joint contractures	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040281 - Very frequent	1
HP:0002828	HP:0002828	Multiple joint contractures	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0002828	HP:0002828	Multiple joint contractures	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	136
HP:0002828	HP:0002828	Multiple joint contractures	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0002828	HP:0002828	Multiple joint contractures	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0002828	HP:0002828	Multiple joint contractures	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0002828	HP:0002828	Multiple joint contractures	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0002828	HP:0002828	Multiple joint contractures	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	72
HP:0002828	HP:0002828	Multiple joint contractures	0	MYBPC1 CL E G H	4604	7549	OMIM:614915	Lethal congenital contracture syndrome 4	.	66
HP:0002828	HP:0002828	Multiple joint contractures	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	1269
HP:0002828	HP:0002828	Multiple joint contractures	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0002828	HP:0002828	Multiple joint contractures	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040282 - Frequent	75
HP:0002828	HP:0002828	Multiple joint contractures	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0002828	HP:0002828	Multiple joint contractures	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0002828	HP:0002828	Multiple joint contractures	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002828	HP:0002828	Multiple joint contractures	0	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3	.	1
HP:0002828	HP:0002828	Multiple joint contractures	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0002828	HP:0002828	Multiple joint contractures	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	213
HP:0002828	HP:0002828	Multiple joint contractures	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	221
HP:0002828	HP:0002828	Multiple joint contractures	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	73
HP:0002828	HP:0002828	Multiple joint contractures	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent	1
HP:0002828	HP:0002828	Multiple joint contractures	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0002828	HP:0002828	Multiple joint contractures	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0002828	HP:0002828	Multiple joint contractures	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0002828	HP:0002828	Multiple joint contractures	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0002828	HP:0002828	Multiple joint contractures	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002828	HP:0002828	Multiple joint contractures	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0002828	HP:0002828	Multiple joint contractures	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040282 - Frequent	113
HP:0002828	HP:0002828	Multiple joint contractures	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent	1200
HP:0002828	HP:0002828	Multiple joint contractures	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent	1200
HP:0002828	HP:0002828	Multiple joint contractures	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0002828	HP:0002828	Multiple joint contractures	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	144
HP:0002828	HP:0002828	Multiple joint contractures	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	2
HP:0002828	HP:0002828	Multiple joint contractures	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0002828	HP:0002828	Multiple joint contractures	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0002828	HP:0002828	Multiple joint contractures	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002828	HP:0002828	Multiple joint contractures	0	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis	HP:0040283 - Occasional	98
HP:0002828	HP:0002828	Multiple joint contractures	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0002828	HP:0002828	Multiple joint contractures	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0002828	HP:0002828	Multiple joint contractures	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040283 - Occasional	4
HP:0002828	HP:0002828	Multiple joint contractures	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	7128
HP:0002828	HP:0002828	Multiple joint contractures	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	106
HP:0002828	HP:0002828	Multiple joint contractures	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0002828	HP:0002828	Multiple joint contractures	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	1
HP:0002828	HP:0002828	Multiple joint contractures	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83

Genes (67) :ADAR ALG14 B3GALT6 CARS1 CHRNG COL12A1 COL6A1 COL6A2 COL6A3 DNA2 DOK7 ERCC2 ERCC3 EXOSC9 FKRP FLNA FLRT1 GMPPB GPKOW GTF2E2 GTF2H5 IDH1 IFIH1 KLC2 KY LARGE1 LMNA LSM11 MED12 MPLKIP MUSK MYBPC1 MYH7 MYOD1 MYOT NDE1 NUP88 PIGS PIP5K1C PMM2 POMT1 POMT2 RAPSN RBM28 RFC1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNU7-1 RTTN RYR1 SAMHD1 SELENON SLC18A3 SLC1A4 SLC39A14 TARS1 TGM1 TOR1A TREX1 TRIP4 TTN TUBA1A UBA1 VPS11 ZMPSTE24

Diseases (37) :ORPHA:51 OMIM:616227 ORPHA:536467 ORPHA:33364 OMIM:265000 ORPHA:610 ORPHA:536516 ORPHA:352470 ORPHA:994 OMIM:618065 ORPHA:370968 OMIM:300244 ORPHA:320406 ORPHA:2570 ORPHA:99646 OMIM:617114 ORPHA:1662 OMIM:305450 OMIM:614915 ORPHA:324604 ORPHA:98911 OMIM:605013 OMIM:618143 OMIM:611369 ORPHA:79318 ORPHA:157954 ORPHA:504476 ORPHA:468631 ORPHA:597 ORPHA:424107 ORPHA:447997 ORPHA:521406 ORPHA:100976 OMIM:128100 ORPHA:486815 OMIM:301830 ORPHA:466934

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