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:0002996	HP:0002996	Limited elbow movement	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0002996	HP:0002996	Limited elbow movement	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0002996	HP:0002996	Limited elbow movement	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome			96
HP:0002996	HP:0002996	Limited elbow movement	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0002996	HP:0002996	Limited elbow movement	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0002996	HP:0002996	Limited elbow movement	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0002996	HP:0002996	Limited elbow movement	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0002996	HP:0002996	Limited elbow movement	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0002996	HP:0002996	Limited elbow movement	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0002996	HP:0002996	Limited elbow movement	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:0002996	HP:0002996	Limited elbow movement	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0002996	HP:0002996	Limited elbow movement	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0002996	HP:0002996	Limited elbow movement	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0002996	HP:0002996	Limited elbow movement	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0002996	HP:0002996	Limited elbow movement	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:0002996	HP:0002996	Limited elbow movement	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0002996	HP:0002996	Limited elbow movement	0	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2			6
HP:0002996	HP:0002996	Limited elbow movement	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0002996	HP:0002996	Limited elbow movement	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0002996	HP:0002996	Limited elbow movement	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0002996	HP:0002996	Limited elbow movement	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0002996	HP:0002996	Limited elbow movement	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional		284
HP:0002996	HP:0002996	Limited elbow movement	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.		284
HP:0002996	HP:0002996	Limited elbow movement	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia			284
HP:0002996	HP:0002996	Limited elbow movement	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome			284
HP:0002996	HP:0002996	Limited elbow movement	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0002996	HP:0002996	Limited elbow movement	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0002996	HP:0002996	Limited elbow movement	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0002996	HP:0002996	Limited elbow movement	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0002996	HP:0002996	Limited elbow movement	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0002996	HP:0002996	Limited elbow movement	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0002996	HP:0002996	Limited elbow movement	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0002996	HP:0002996	Limited elbow movement	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0002996	HP:0002996	Limited elbow movement	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0002996	HP:0002996	Limited elbow movement	0	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0002996	HP:0002996	Limited elbow movement	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0002996	HP:0002996	Limited elbow movement	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0002996	HP:0002996	Limited elbow movement	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0002996	HP:0002996	Limited elbow movement	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0002996	HP:0002996	Limited elbow movement	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0002996	HP:0002996	Limited elbow movement	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0002996	HP:0002996	Limited elbow movement	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0002996	HP:0002996	Limited elbow movement	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0002996	HP:0002996	Limited elbow movement	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0002996	HP:0002996	Limited elbow movement	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0002996	HP:0002996	Limited elbow movement	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0002996	HP:0002996	Limited elbow movement	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0002996	HP:0002996	Limited elbow movement	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0002996	HP:0002996	Limited elbow movement	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040284 - Very rare		600
HP:0002996	HP:0002996	Limited elbow movement	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0002996	HP:0002996	Limited elbow movement	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked			107
HP:0002996	HP:0002996	Limited elbow movement	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0002996	HP:0002996	Limited elbow movement	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0002996	HP:0002996	Limited elbow movement	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0002996	HP:0002996	Limited elbow movement	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0002996	HP:0002996	Limited elbow movement	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0002996	HP:0002996	Limited elbow movement	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0002996	HP:0002996	Limited elbow movement	0	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly			92
HP:0002996	HP:0002996	Limited elbow movement	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0002996	HP:0002996	Limited elbow movement	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0002996	HP:0002996	Limited elbow movement	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0002996	HP:0002996	Limited elbow movement	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0002996	HP:0002996	Limited elbow movement	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0002996	HP:0002996	Limited elbow movement	0	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0002996	HP:0002996	Limited elbow movement	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0002996	HP:0002996	Limited elbow movement	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0002996	HP:0002996	Limited elbow movement	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002996	HP:0002996	Limited elbow movement	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0002996	HP:0002996	Limited elbow movement	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0002996	HP:0002996	Limited elbow movement	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0002996	HP:0002996	Limited elbow movement	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0002996	HP:0002996	Limited elbow movement	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0002996	HP:0002996	Limited elbow movement	0	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA			145
HP:0002996	HP:0002996	Limited elbow movement	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.		68
HP:0002996	HP:0002996	Limited elbow movement	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0002996	HP:0002996	Limited elbow movement	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0002996	HP:0002996	Limited elbow movement	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0002996	HP:0002996	Limited elbow movement	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0002996	HP:0002996	Limited elbow movement	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0002996	HP:0002996	Limited elbow movement	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0002996	HP:0002996	Limited elbow movement	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0002996	HP:0002996	Limited elbow movement	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0002996	HP:0002996	Limited elbow movement	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0002996	HP:0002996	Limited elbow movement	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0002996	HP:0002996	Limited elbow movement	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002996	HP:0002996	Limited elbow movement	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0002996	HP:0002996	Limited elbow movement	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0002996	HP:0002996	Limited elbow movement	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002996	HP:0002996	Limited elbow movement	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0002996	HP:0002996	Limited elbow movement	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia			3
HP:0002996	HP:0002996	Limited elbow movement	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0002996	HP:0002996	Limited elbow movement	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0002996	HP:0002996	Limited elbow movement	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V			8
HP:0002996	HP:0002996	Limited elbow movement	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002996	HP:0002996	Limited elbow movement	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0002996	HP:0002996	Limited elbow movement	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0002996	HP:0002996	Limited elbow movement	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0002996	HP:0002996	Limited elbow movement	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0002996	HP:0002996	Limited elbow movement	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0002996	HP:0002996	Limited elbow movement	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0002996	HP:0002996	Limited elbow movement	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0002996	HP:0002996	Limited elbow movement	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0002996	HP:0002996	Limited elbow movement	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0002996	HP:0002996	Limited elbow movement	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0002996	HP:0002996	Limited elbow movement	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0002996	HP:0002996	Limited elbow movement	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0002996	HP:0002996	Limited elbow movement	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0002996	HP:0002996	Limited elbow movement	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0002996	HP:0002996	Limited elbow movement	0	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive			645
HP:0002996	HP:0002996	Limited elbow movement	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0002996	HP:0002996	Limited elbow movement	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0002996	HP:0002996	Limited elbow movement	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0002996	HP:0002996	Limited elbow movement	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0002996	HP:0002996	Limited elbow movement	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002996	HP:0002996	Limited elbow movement	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0002996	HP:0002996	Limited elbow movement	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0002996	HP:0002996	Limited elbow movement	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0002996	HP:0002996	Limited elbow movement	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related			32
HP:0002996	HP:0002996	Limited elbow movement	0	MATN3 CL E G H	4148	6909	ORPHA:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type			32
HP:0002996	HP:0002996	Limited elbow movement	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0002996	HP:0002996	Limited elbow movement	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0002996	HP:0002996	Limited elbow movement	0	MET CL E G H	4233	7029	OMIM:620019				375
HP:0002996	HP:0002996	Limited elbow movement	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0002996	HP:0002996	Limited elbow movement	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0002996	HP:0002996	Limited elbow movement	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0002996	HP:0002996	Limited elbow movement	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0002996	HP:0002996	Limited elbow movement	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0002996	HP:0002996	Limited elbow movement	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0002996	HP:0002996	Limited elbow movement	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A			75
HP:0002996	HP:0002996	Limited elbow movement	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0002996	HP:0002996	Limited elbow movement	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0002996	HP:0002996	Limited elbow movement	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0002996	HP:0002996	Limited elbow movement	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type			53
HP:0002996	HP:0002996	Limited elbow movement	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract			163
HP:0002996	HP:0002996	Limited elbow movement	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002996	HP:0002996	Limited elbow movement	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0002996	HP:0002996	Limited elbow movement	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002996	HP:0002996	Limited elbow movement	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0002996	HP:0002996	Limited elbow movement	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0002996	HP:0002996	Limited elbow movement	0	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly			8
HP:0002996	HP:0002996	Limited elbow movement	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0002996	HP:0002996	Limited elbow movement	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0002996	HP:0002996	Limited elbow movement	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0002996	HP:0002996	Limited elbow movement	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0002996	HP:0002996	Limited elbow movement	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0002996	HP:0002996	Limited elbow movement	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0002996	HP:0002996	Limited elbow movement	0	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0002996	HP:0002996	Limited elbow movement	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0002996	HP:0002996	Limited elbow movement	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome			58
HP:0002996	HP:0002996	Limited elbow movement	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0002996	HP:0002996	Limited elbow movement	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0002996	HP:0002996	Limited elbow movement	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.		445
HP:0002996	HP:0002996	Limited elbow movement	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0002996	HP:0002996	Limited elbow movement	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0002996	HP:0002996	Limited elbow movement	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0002996	HP:0002996	Limited elbow movement	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0002996	HP:0002996	Limited elbow movement	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0002996	HP:0002996	Limited elbow movement	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0002996	HP:0002996	Limited elbow movement	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0002996	HP:0002996	Limited elbow movement	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.		86
HP:0002996	HP:0002996	Limited elbow movement	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0002996	HP:0002996	Limited elbow movement	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0002996	HP:0002996	Limited elbow movement	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0002996	HP:0002996	Limited elbow movement	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome			144
HP:0002996	HP:0002996	Limited elbow movement	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0002996	HP:0002996	Limited elbow movement	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease			3
HP:0002996	HP:0002996	Limited elbow movement	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis	.		66
HP:0002996	HP:0002996	Limited elbow movement	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0002996	HP:0002996	Limited elbow movement	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0002996	HP:0002996	Limited elbow movement	0	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4			166
HP:0002996	HP:0002996	Limited elbow movement	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0002996	HP:0002996	Limited elbow movement	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002996	HP:0002996	Limited elbow movement	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0002996	HP:0002996	Limited elbow movement	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0002996	HP:0002996	Limited elbow movement	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.		135
HP:0002996	HP:0002996	Limited elbow movement	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0002996	HP:0002996	Limited elbow movement	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0002996	HP:0002996	Limited elbow movement	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0002996	HP:0002996	Limited elbow movement	0	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0002996	HP:0002996	Limited elbow movement	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome			80
HP:0002996	HP:0002996	Limited elbow movement	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0002996	HP:0002996	Limited elbow movement	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0002996	HP:0002996	Limited elbow movement	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0002996	HP:0002996	Limited elbow movement	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0002996	HP:0002996	Limited elbow movement	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0002996	HP:0002996	Limited elbow movement	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0002996	HP:0002996	Limited elbow movement	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0002996	HP:0002996	Limited elbow movement	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0002996	HP:0002996	Limited elbow movement	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0002996	HP:0002996	Limited elbow movement	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0002996	HP:0002996	Limited elbow movement	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002996	HP:0002996	Limited elbow movement	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002996	HP:0002996	Limited elbow movement	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0002996	HP:0002996	Limited elbow movement	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0002996	HP:0002996	Limited elbow movement	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0002996	HP:0002996	Limited elbow movement	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002996	HP:0002996	Limited elbow movement	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0002996	HP:0002996	Limited elbow movement	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0002996	HP:0002996	Limited elbow movement	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0002996	HP:0002996	Limited elbow movement	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional		46
HP:0002996	HP:0002996	Limited elbow movement	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0002996	HP:0002996	Limited elbow movement	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0002996	HP:0002996	Limited elbow movement	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0002996	HP:0002996	Limited elbow movement	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0002996	HP:0002996	Limited elbow movement	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0002996	HP:0002996	Limited elbow movement	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0002996	HP:0001377	Limited elbow extension	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0002996	HP:0002987	Elbow flexion contracture	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0002996	HP:0002987	Elbow flexion contracture	1	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		96
HP:0002996	HP:0002987	Elbow flexion contracture	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0002996	HP:0002987	Elbow flexion contracture	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional		304
HP:0002996	HP:0006376	Limited elbow flexion	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0002996	HP:0001377	Limited elbow extension	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.		192
HP:0002996	HP:0002987	Elbow flexion contracture	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0002996	HP:0002987	Elbow flexion contracture	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		38
HP:0002996	HP:0001377	Limited elbow extension	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		38
HP:0002996	HP:0002987	Elbow flexion contracture	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0002996	HP:0001377	Limited elbow extension	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.		7
HP:0002996	HP:0002987	Elbow flexion contracture	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent		323
HP:0002996	HP:0002987	Elbow flexion contracture	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0002996	HP:0006376	Limited elbow flexion	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0002996	HP:0001377	Limited elbow extension	1	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2	.		6
HP:0002996	HP:0002987	Elbow flexion contracture	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		65
HP:0002996	HP:0002987	Elbow flexion contracture	1	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		65
HP:0002996	HP:0002987	Elbow flexion contracture	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0002996	HP:0002987	Elbow flexion contracture	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent		3
HP:0002996	HP:0001377	Limited elbow extension	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.		284
HP:0002996	HP:0001377	Limited elbow extension	1	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040283 - Occasional		284
HP:0002996	HP:0002987	Elbow flexion contracture	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		442
HP:0002996	HP:0002987	Elbow flexion contracture	1	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.		442
HP:0002996	HP:0002987	Elbow flexion contracture	1	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		442
HP:0002996	HP:0002987	Elbow flexion contracture	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		478
HP:0002996	HP:0002987	Elbow flexion contracture	1	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.		478
HP:0002996	HP:0002987	Elbow flexion contracture	1	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		478
HP:0002996	HP:0002987	Elbow flexion contracture	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		702
HP:0002996	HP:0002987	Elbow flexion contracture	1	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.		702
HP:0002996	HP:0002987	Elbow flexion contracture	1	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		702
HP:0002996	HP:0001377	Limited elbow extension	1	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0002996	HP:0006394	Limited pronation/supination of forearm	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent		3
HP:0002996	HP:0006394	Limited pronation/supination of forearm	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent		9
HP:0002996	HP:0001377	Limited elbow extension	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional		89
HP:0002996	HP:0001377	Limited elbow extension	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0002996	HP:0002987	Elbow flexion contracture	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0002996	HP:0001377	Limited elbow extension	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0002996	HP:0002987	Elbow flexion contracture	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0002996	HP:0001377	Limited elbow extension	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0002996	HP:0002987	Elbow flexion contracture	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0002996	HP:0002987	Elbow flexion contracture	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0002996	HP:0002987	Elbow flexion contracture	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0002996	HP:0001377	Limited elbow extension	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0002996	HP:0001377	Limited elbow extension	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional		65
HP:0002996	HP:0002987	Elbow flexion contracture	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	.		37
HP:0002996	HP:0002987	Elbow flexion contracture	1	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.		107
HP:0002996	HP:0002987	Elbow flexion contracture	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		107
HP:0002996	HP:0002987	Elbow flexion contracture	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0002996	HP:0002987	Elbow flexion contracture	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0002996	HP:0002987	Elbow flexion contracture	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0002996	HP:0002987	Elbow flexion contracture	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent		18
HP:0002996	HP:0002987	Elbow flexion contracture	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040282 - Frequent		18
HP:0002996	HP:0001377	Limited elbow extension	1	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly	.		92
HP:0002996	HP:0002987	Elbow flexion contracture	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0002996	HP:0001377	Limited elbow extension	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		3
HP:0002996	HP:0002987	Elbow flexion contracture	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		3
HP:0002996	HP:0002987	Elbow flexion contracture	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0002996	HP:0001377	Limited elbow extension	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0002996	HP:0001377	Limited elbow extension	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0002996	HP:0002987	Elbow flexion contracture	1	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0002996	HP:0002987	Elbow flexion contracture	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0002996	HP:0001377	Limited elbow extension	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0002996	HP:0002987	Elbow flexion contracture	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0002996	HP:0002987	Elbow flexion contracture	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002996	HP:0002987	Elbow flexion contracture	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0002996	HP:0001377	Limited elbow extension	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.		175
HP:0002996	HP:0001377	Limited elbow extension	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.		145
HP:0002996	HP:0001377	Limited elbow extension	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent		145
HP:0002996	HP:0001377	Limited elbow extension	1	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA	.		145
HP:0002996	HP:0002987	Elbow flexion contracture	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		68
HP:0002996	HP:0002987	Elbow flexion contracture	1	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	HP:0003577 - Congenital onset	61
HP:0002996	HP:0002987	Elbow flexion contracture	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0002996	HP:0002987	Elbow flexion contracture	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0002996	HP:0001377	Limited elbow extension	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0002996	HP:0001377	Limited elbow extension	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.		493
HP:0002996	HP:0001377	Limited elbow extension	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.		233
HP:0002996	HP:0001377	Limited elbow extension	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0002996	HP:0006376	Limited elbow flexion	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0002996	HP:0002987	Elbow flexion contracture	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0002996	HP:0001377	Limited elbow extension	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0002996	HP:0002987	Elbow flexion contracture	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002996	HP:0002987	Elbow flexion contracture	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0002996	HP:0001377	Limited elbow extension	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.		99
HP:0002996	HP:0006376	Limited elbow flexion	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.		99
HP:0002996	HP:0002987	Elbow flexion contracture	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002996	HP:0001377	Limited elbow extension	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0002996	HP:0006394	Limited pronation/supination of forearm	1	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.		3
HP:0002996	HP:0002987	Elbow flexion contracture	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0002996	HP:0006394	Limited pronation/supination of forearm	1	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V	.		8
HP:0002996	HP:0001377	Limited elbow extension	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002996	HP:0002987	Elbow flexion contracture	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0002996	HP:0002987	Elbow flexion contracture	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0002996	HP:0001377	Limited elbow extension	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0002996	HP:0006376	Limited elbow flexion	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0002996	HP:0002987	Elbow flexion contracture	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional		14
HP:0002996	HP:0002987	Elbow flexion contracture	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0002996	HP:0002987	Elbow flexion contracture	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0002996	HP:0002987	Elbow flexion contracture	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0002996	HP:0001377	Limited elbow extension	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0002996	HP:0002987	Elbow flexion contracture	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0002996	HP:0002987	Elbow flexion contracture	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0002996	HP:0002987	Elbow flexion contracture	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0002996	HP:0002987	Elbow flexion contracture	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0002996	HP:0002987	Elbow flexion contracture	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0002996	HP:0002987	Elbow flexion contracture	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.		645
HP:0002996	HP:0002987	Elbow flexion contracture	1	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	.		645
HP:0002996	HP:0002987	Elbow flexion contracture	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0002996	HP:0006376	Limited elbow flexion	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0002996	HP:0001377	Limited elbow extension	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0002996	HP:0006394	Limited pronation/supination of forearm	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0002996	HP:0002987	Elbow flexion contracture	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040282 - Frequent		165
HP:0002996	HP:0001377	Limited elbow extension	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0002996	HP:0002987	Elbow flexion contracture	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002996	HP:0002987	Elbow flexion contracture	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0002996	HP:0001377	Limited elbow extension	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0002996	HP:0006394	Limited pronation/supination of forearm	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent		21
HP:0002996	HP:0001377	Limited elbow extension	1	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related	.		32
HP:0002996	HP:0001377	Limited elbow extension	1	MATN3 CL E G H	4148	6909	ORPHA:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type	HP:0040282 - Frequent		32
HP:0002996	HP:0006394	Limited pronation/supination of forearm	1	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0002996	HP:0001377	Limited elbow extension	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0002996	HP:0006394	Limited pronation/supination of forearm	1	MET CL E G H	4233	7029	OMIM:620019				375
HP:0002996	HP:0001377	Limited elbow extension	1	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.		52
HP:0002996	HP:0002987	Elbow flexion contracture	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0002996	HP:0002987	Elbow flexion contracture	1	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.		166
HP:0002996	HP:0002987	Elbow flexion contracture	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0002996	HP:0002987	Elbow flexion contracture	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0002996	HP:0002987	Elbow flexion contracture	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0002996	HP:0006376	Limited elbow flexion	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent		75
HP:0002996	HP:0002987	Elbow flexion contracture	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0002996	HP:0002987	Elbow flexion contracture	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		48
HP:0002996	HP:0002987	Elbow flexion contracture	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0002996	HP:0001377	Limited elbow extension	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0002996	HP:0001377	Limited elbow extension	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.		53
HP:0002996	HP:0001377	Limited elbow extension	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional		163
HP:0002996	HP:0002987	Elbow flexion contracture	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002996	HP:0001377	Limited elbow extension	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	HP:0040283 - Occasional		531
HP:0002996	HP:0002987	Elbow flexion contracture	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002996	HP:0002987	Elbow flexion contracture	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0002996	HP:0002987	Elbow flexion contracture	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0002996	HP:0002987	Elbow flexion contracture	1	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly	.		8
HP:0002996	HP:0002987	Elbow flexion contracture	1	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:0002996	HP:0002987	Elbow flexion contracture	1	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.	HP:0003577 - Congenital onset	45
HP:0002996	HP:0002987	Elbow flexion contracture	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0002996	HP:0002987	Elbow flexion contracture	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent		76
HP:0002996	HP:0001377	Limited elbow extension	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent		76
HP:0002996	HP:0001377	Limited elbow extension	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0002996	HP:0002987	Elbow flexion contracture	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.		20
HP:0002996	HP:0002987	Elbow flexion contracture	1	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0002996	HP:0002987	Elbow flexion contracture	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0002996	HP:0006376	Limited elbow flexion	1	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040281 - Very frequent		58
HP:0002996	HP:0002987	Elbow flexion contracture	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.		53
HP:0002996	HP:0002987	Elbow flexion contracture	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0002996	HP:0001377	Limited elbow extension	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0002996	HP:0001377	Limited elbow extension	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0002996	HP:0001377	Limited elbow extension	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.		37
HP:0002996	HP:0002987	Elbow flexion contracture	1	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0002996	HP:0001377	Limited elbow extension	1	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0002996	HP:0002987	Elbow flexion contracture	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0002996	HP:0002987	Elbow flexion contracture	1	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0002996	HP:0001377	Limited elbow extension	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0002996	HP:0002987	Elbow flexion contracture	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.		11
HP:0002996	HP:0002987	Elbow flexion contracture	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0002996	HP:0002987	Elbow flexion contracture	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0002996	HP:0002987	Elbow flexion contracture	1	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		144
HP:0002996	HP:0001377	Limited elbow extension	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0002996	HP:0001377	Limited elbow extension	1	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease	.		3
HP:0002996	HP:0002987	Elbow flexion contracture	1	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0002996	HP:0002987	Elbow flexion contracture	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional		166
HP:0002996	HP:0006376	Limited elbow flexion	1	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4	.		166
HP:0002996	HP:0002987	Elbow flexion contracture	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent		166
HP:0002996	HP:0002987	Elbow flexion contracture	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome	.		68
HP:0002996	HP:0002987	Elbow flexion contracture	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0002996	HP:0002987	Elbow flexion contracture	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine	.		4
HP:0002996	HP:0002987	Elbow flexion contracture	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0002996	HP:0001377	Limited elbow extension	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0002996	HP:0002987	Elbow flexion contracture	1	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.		3
HP:0002996	HP:0002987	Elbow flexion contracture	1	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.		80
HP:0002996	HP:0001377	Limited elbow extension	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional		9
HP:0002996	HP:0006376	Limited elbow flexion	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0002996	HP:0002987	Elbow flexion contracture	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0002996	HP:0002987	Elbow flexion contracture	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		1129
HP:0002996	HP:0002987	Elbow flexion contracture	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		508
HP:0002996	HP:0002987	Elbow flexion contracture	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0002996	HP:0002987	Elbow flexion contracture	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040280 - Obligate		5
HP:0002996	HP:0002987	Elbow flexion contracture	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0002996	HP:0001377	Limited elbow extension	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0002996	HP:0002987	Elbow flexion contracture	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0002996	HP:0001377	Limited elbow extension	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002996	HP:0002987	Elbow flexion contracture	1	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002996	HP:0002987	Elbow flexion contracture	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		171
HP:0002996	HP:0001377	Limited elbow extension	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0002996	HP:0001377	Limited elbow extension	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0002996	HP:0002987	Elbow flexion contracture	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002996	HP:0002987	Elbow flexion contracture	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0002996	HP:0002987	Elbow flexion contracture	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0002996	HP:0002987	Elbow flexion contracture	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0002996	HP:0002987	Elbow flexion contracture	1	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0002996	HP:0002987	Elbow flexion contracture	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0002996	HP:0002987	Elbow flexion contracture	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0002996	HP:0002987	Elbow flexion contracture	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		23
HP:0002996	HP:0001377	Limited elbow extension	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0002996	HP:0002987	Elbow flexion contracture	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0002996	HP:0006471	Fixed elbow flexion	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0002996	HP:0006471	Fixed elbow flexion	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0002996	HP:0005852	Limited elbow extension and supination	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0002996	HP:0005060	Limited elbow flexion/extension	2	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0002996	HP:0005060	Limited elbow flexion/extension	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.		99
HP:0002996	HP:0005060	Limited elbow flexion/extension	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional		4
HP:0002996	HP:0006471	Fixed elbow flexion	2	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		165
HP:0002996	HP:0005852	Limited elbow extension and supination	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0002996	HP:0006471	Fixed elbow flexion	2	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		237
HP:0002996	HP:0005852	Limited elbow extension and supination	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98