Human Phenotype Ontology

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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 elbow movement (HP:0002996)

Parent Node:
Upper-limb joint contracture (HP:0100360)

..Starting node
..Elbow flexion contracture (HP:0002987)

Term ID:

2987

Name:

Elbow flexion contracture

Synonym:

Elbow flexion contractures; Elbow flexion deformity; Fixed flexion at the elbow joint

Definition:

An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.

Comments:

Reference:

HP:0002987

Genes and Diseases:

Child Nodes:

Sister Nodes:

Joint contracture of the hand (HP:0009473)

Shoulder flexion contracture (HP:0003044)

Wrist flexion contracture (HP:0001239)

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:0002987	HP:0002987	Elbow flexion contracture	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0002987	HP:0002987	Elbow flexion contracture	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		96
HP:0002987	HP:0002987	Elbow flexion contracture	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0002987	HP:0002987	Elbow flexion contracture	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional		304
HP:0002987	HP:0002987	Elbow flexion contracture	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0002987	HP:0002987	Elbow flexion contracture	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		38
HP:0002987	HP:0002987	Elbow flexion contracture	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0002987	HP:0002987	Elbow flexion contracture	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent		323
HP:0002987	HP:0002987	Elbow flexion contracture	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0002987	HP:0002987	Elbow flexion contracture	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		65
HP:0002987	HP:0002987	Elbow flexion contracture	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		65
HP:0002987	HP:0002987	Elbow flexion contracture	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0002987	HP:0002987	Elbow flexion contracture	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent		3
HP:0002987	HP:0002987	Elbow flexion contracture	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		442
HP:0002987	HP:0002987	Elbow flexion contracture	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.		442
HP:0002987	HP:0002987	Elbow flexion contracture	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		442
HP:0002987	HP:0002987	Elbow flexion contracture	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		478
HP:0002987	HP:0002987	Elbow flexion contracture	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.		478
HP:0002987	HP:0002987	Elbow flexion contracture	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		478
HP:0002987	HP:0002987	Elbow flexion contracture	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		702
HP:0002987	HP:0002987	Elbow flexion contracture	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.		702
HP:0002987	HP:0002987	Elbow flexion contracture	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		702
HP:0002987	HP:0002987	Elbow flexion contracture	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0002987	HP:0002987	Elbow flexion contracture	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0002987	HP:0002987	Elbow flexion contracture	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0002987	HP:0002987	Elbow flexion contracture	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0002987	HP:0002987	Elbow flexion contracture	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0002987	HP:0002987	Elbow flexion contracture	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	.		37
HP:0002987	HP:0002987	Elbow flexion contracture	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.		107
HP:0002987	HP:0002987	Elbow flexion contracture	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		107
HP:0002987	HP:0002987	Elbow flexion contracture	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0002987	HP:0002987	Elbow flexion contracture	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0002987	HP:0002987	Elbow flexion contracture	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0002987	HP:0002987	Elbow flexion contracture	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent		18
HP:0002987	HP:0002987	Elbow flexion contracture	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040282 - Frequent		18
HP:0002987	HP:0002987	Elbow flexion contracture	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0002987	HP:0002987	Elbow flexion contracture	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		3
HP:0002987	HP:0002987	Elbow flexion contracture	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0002987	HP:0002987	Elbow flexion contracture	0	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0002987	HP:0002987	Elbow flexion contracture	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0002987	HP:0002987	Elbow flexion contracture	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0002987	HP:0002987	Elbow flexion contracture	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002987	HP:0002987	Elbow flexion contracture	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0002987	HP:0002987	Elbow flexion contracture	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		68
HP:0002987	HP:0002987	Elbow flexion contracture	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	HP:0003577 - Congenital onset	61
HP:0002987	HP:0002987	Elbow flexion contracture	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0002987	HP:0002987	Elbow flexion contracture	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0002987	HP:0002987	Elbow flexion contracture	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0002987	HP:0002987	Elbow flexion contracture	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002987	HP:0002987	Elbow flexion contracture	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0002987	HP:0002987	Elbow flexion contracture	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002987	HP:0002987	Elbow flexion contracture	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0002987	HP:0002987	Elbow flexion contracture	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0002987	HP:0002987	Elbow flexion contracture	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0002987	HP:0002987	Elbow flexion contracture	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional		14
HP:0002987	HP:0002987	Elbow flexion contracture	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0002987	HP:0002987	Elbow flexion contracture	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0002987	HP:0002987	Elbow flexion contracture	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0002987	HP:0002987	Elbow flexion contracture	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0002987	HP:0002987	Elbow flexion contracture	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0002987	HP:0002987	Elbow flexion contracture	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0002987	HP:0002987	Elbow flexion contracture	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0002987	HP:0002987	Elbow flexion contracture	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0002987	HP:0002987	Elbow flexion contracture	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.		645
HP:0002987	HP:0002987	Elbow flexion contracture	0	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	.		645
HP:0002987	HP:0002987	Elbow flexion contracture	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0002987	HP:0002987	Elbow flexion contracture	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040282 - Frequent		165
HP:0002987	HP:0002987	Elbow flexion contracture	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002987	HP:0002987	Elbow flexion contracture	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0002987	HP:0002987	Elbow flexion contracture	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0002987	HP:0002987	Elbow flexion contracture	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.		166
HP:0002987	HP:0002987	Elbow flexion contracture	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0002987	HP:0002987	Elbow flexion contracture	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0002987	HP:0002987	Elbow flexion contracture	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0002987	HP:0002987	Elbow flexion contracture	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0002987	HP:0002987	Elbow flexion contracture	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		48
HP:0002987	HP:0002987	Elbow flexion contracture	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0002987	HP:0002987	Elbow flexion contracture	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002987	HP:0002987	Elbow flexion contracture	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002987	HP:0002987	Elbow flexion contracture	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0002987	HP:0002987	Elbow flexion contracture	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0002987	HP:0002987	Elbow flexion contracture	0	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly	.		8
HP:0002987	HP:0002987	Elbow flexion contracture	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040284 - Very rare		105
HP:0002987	HP:0002987	Elbow flexion contracture	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.	HP:0003577 - Congenital onset	45
HP:0002987	HP:0002987	Elbow flexion contracture	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0002987	HP:0002987	Elbow flexion contracture	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent		76
HP:0002987	HP:0002987	Elbow flexion contracture	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.		20
HP:0002987	HP:0002987	Elbow flexion contracture	0	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0002987	HP:0002987	Elbow flexion contracture	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0002987	HP:0002987	Elbow flexion contracture	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.		53
HP:0002987	HP:0002987	Elbow flexion contracture	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0002987	HP:0002987	Elbow flexion contracture	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0002987	HP:0002987	Elbow flexion contracture	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0002987	HP:0002987	Elbow flexion contracture	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0002987	HP:0002987	Elbow flexion contracture	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.		11
HP:0002987	HP:0002987	Elbow flexion contracture	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0002987	HP:0002987	Elbow flexion contracture	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0002987	HP:0002987	Elbow flexion contracture	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		144
HP:0002987	HP:0002987	Elbow flexion contracture	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0002987	HP:0002987	Elbow flexion contracture	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional		166
HP:0002987	HP:0002987	Elbow flexion contracture	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent		166
HP:0002987	HP:0002987	Elbow flexion contracture	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome	.		68
HP:0002987	HP:0002987	Elbow flexion contracture	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0002987	HP:0002987	Elbow flexion contracture	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine	.		4
HP:0002987	HP:0002987	Elbow flexion contracture	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0002987	HP:0002987	Elbow flexion contracture	0	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.		3
HP:0002987	HP:0002987	Elbow flexion contracture	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.		80
HP:0002987	HP:0002987	Elbow flexion contracture	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0002987	HP:0002987	Elbow flexion contracture	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		1129
HP:0002987	HP:0002987	Elbow flexion contracture	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		508
HP:0002987	HP:0002987	Elbow flexion contracture	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0002987	HP:0002987	Elbow flexion contracture	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040280 - Obligate		5
HP:0002987	HP:0002987	Elbow flexion contracture	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0002987	HP:0002987	Elbow flexion contracture	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0002987	HP:0002987	Elbow flexion contracture	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002987	HP:0002987	Elbow flexion contracture	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		171
HP:0002987	HP:0002987	Elbow flexion contracture	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002987	HP:0002987	Elbow flexion contracture	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0002987	HP:0002987	Elbow flexion contracture	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0002987	HP:0002987	Elbow flexion contracture	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0002987	HP:0002987	Elbow flexion contracture	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0002987	HP:0002987	Elbow flexion contracture	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0002987	HP:0002987	Elbow flexion contracture	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0002987	HP:0002987	Elbow flexion contracture	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		23
HP:0002987	HP:0002987	Elbow flexion contracture	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13

Genes (99) :ACTA1 ALDH18A1 ANO5 ATR B3GALT6 B3GAT3 CAPN3 CHST3 COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 CPT2 CRLF1 DDR2 DMD ECEL1 EMD ERCC1 ERCC6 ERGIC1 ERLIN2 ESCO2 EXOC6B EXTL3 FBN1 FBN2 FBXO28 FDFT1 FHL1 FKBP10 FLNA GJB2 GNB2 GNS HACD1 HS2ST1 ITGA7 JAG2 KIF22 KY LAMA2 LARGE1 LGI4 LIFR LMNA LMX1B MAP3K20 MAP3K7 MYH3 MYL1 MYL11 MYL2 NALCN NIPBL P4HTM PIGA PIGY PIK3C2A PITX1 PLOD1 PLOD2 PLOD3 POR PSMB8 PSTPIP1 PTDSS1 PYCR1 RMRP RNU4ATAC RSPO2 SCARF2 SCYL2 SELENON SLC25A46 SLC26A2 SLC29A3 SLC39A8 SLC6A9 SNRPB SPRTN SRD5A3 SVIL SYNE1 SYNE2 SYT2 TBX15 TBX3 TFAP2A TMEM222 TMEM43 TOR1A TPM2 TPM3 TRPV4 UBA1 UNC80 WNT7A

Diseases (99) :ORPHA:2020 ORPHA:97244 ORPHA:447757 ORPHA:206549 OMIM:210600 ORPHA:93359 OMIM:245600 ORPHA:267 ORPHA:610 ORPHA:75840 ORPHA:536516 ORPHA:1143 OMIM:158810 OMIM:608836 OMIM:272430 OMIM:271665 OMIM:618175 ORPHA:206546 OMIM:615065 OMIM:310300 ORPHA:98863 OMIM:610758 OMIM:214150 ORPHA:209951 ORPHA:280384 OMIM:268300 ORPHA:508533 OMIM:184900 OMIM:608328 OMIM:121050 OMIM:619777 OMIM:618156 OMIM:259450 ORPHA:1826 OMIM:305620 OMIM:148210 OMIM:619503 OMIM:252940 OMIM:619194 OMIM:619566 ORPHA:93360 OMIM:617114 OMIM:618138 OMIM:608840 OMIM:617468 ORPHA:3206 OMIM:601559 ORPHA:98853 ORPHA:98855 OMIM:181350 OMIM:616516 OMIM:248370 ORPHA:2614 OMIM:193700 OMIM:178110 OMIM:618414 OMIM:619110 OMIM:616266 ORPHA:371364 OMIM:122470 OMIM:618493 OMIM:300868 OMIM:616809 OMIM:618440 OMIM:186550 ORPHA:1900 OMIM:609220 OMIM:612394 ORPHA:95699 OMIM:256040 OMIM:604416 OMIM:151050 OMIM:614438 OMIM:607095 OMIM:226960 OMIM:210710 OMIM:618022 OMIM:600920 OMIM:619303 ORPHA:56304 ORPHA:93307 OMIM:602782 ORPHA:468699 OMIM:617301 OMIM:117650 OMIM:616200 OMIM:612713 OMIM:619040 OMIM:619461 ORPHA:93333 OMIM:181450 OMIM:113620 OMIM:619470 OMIM:618947 OMIM:108120 OMIM:600175 OMIM:184252 ORPHA:1145 OMIM:276820

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

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