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:
Abnormality of the elbow (HP:0009811)

Grandparent Node:
Limitation of joint mobility (HP:0001376)

Parent Node:
Limited elbow movement (HP:0002996)

..Starting node
..Limited elbow extension (HP:0001377)

Term ID:

1377

Name:

Limited elbow extension

Synonym:

Decreased elbow extension; Elbow limited extension; Limitation of elbow extension; Limited elbow extension; Limited extension at elbows; Limited forearm extension; Restricted elbow extension

Definition:

Limited ability to straighten the arm at the elbow joint.

Comments:

Reference:

HP:0001377

Genes and Diseases:

Child Nodes:

........

Limited elbow flexion/extension (HP:0005060)

........

Limited elbow extension and supination (HP:0005852)

Sister Nodes:

Elbow flexion contracture (HP:0002987)

Limited elbow flexion (HP:0006376)

Limited pronation/supination of forearm (HP:0006394)

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:0001377	HP:0001377	Limited elbow extension	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0001377	HP:0001377	Limited elbow extension	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0001377	HP:0001377	Limited elbow extension	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional	38
HP:0001377	HP:0001377	Limited elbow extension	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0001377	HP:0001377	Limited elbow extension	0	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2	.	6
HP:0001377	HP:0001377	Limited elbow extension	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0001377	HP:0001377	Limited elbow extension	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040283 - Occasional	284
HP:0001377	HP:0001377	Limited elbow extension	0	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy		137
HP:0001377	HP:0001377	Limited elbow extension	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0001377	HP:0001377	Limited elbow extension	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0001377	HP:0001377	Limited elbow extension	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0001377	HP:0001377	Limited elbow extension	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001377	HP:0001377	Limited elbow extension	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0001377	HP:0001377	Limited elbow extension	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0001377	HP:0001377	Limited elbow extension	0	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly	.	92
HP:0001377	HP:0001377	Limited elbow extension	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional	3
HP:0001377	HP:0001377	Limited elbow extension	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0001377	HP:0001377	Limited elbow extension	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0001377	HP:0001377	Limited elbow extension	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0001377	HP:0001377	Limited elbow extension	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0001377	HP:0001377	Limited elbow extension	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0001377	HP:0001377	Limited elbow extension	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0001377	HP:0001377	Limited elbow extension	0	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA	.	145
HP:0001377	HP:0001377	Limited elbow extension	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0001377	HP:0001377	Limited elbow extension	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0001377	HP:0001377	Limited elbow extension	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0001377	HP:0001377	Limited elbow extension	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0001377	HP:0001377	Limited elbow extension	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0001377	HP:0001377	Limited elbow extension	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0001377	HP:0001377	Limited elbow extension	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0001377	HP:0001377	Limited elbow extension	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0001377	HP:0001377	Limited elbow extension	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0001377	HP:0001377	Limited elbow extension	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001377	HP:0001377	Limited elbow extension	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0001377	HP:0001377	Limited elbow extension	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001377	HP:0001377	Limited elbow extension	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0001377	HP:0001377	Limited elbow extension	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related	.	32
HP:0001377	HP:0001377	Limited elbow extension	0	MATN3 CL E G H	4148	6909	ORPHA:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type	HP:0040282 - Frequent	32
HP:0001377	HP:0001377	Limited elbow extension	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0001377	HP:0001377	Limited elbow extension	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.	52
HP:0001377	HP:0001377	Limited elbow extension	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0001377	HP:0001377	Limited elbow extension	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0001377	HP:0001377	Limited elbow extension	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0001377	HP:0001377	Limited elbow extension	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	HP:0040283 - Occasional	531
HP:0001377	HP:0001377	Limited elbow extension	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent	76
HP:0001377	HP:0001377	Limited elbow extension	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0001377	HP:0001377	Limited elbow extension	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0001377	HP:0001377	Limited elbow extension	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0001377	HP:0001377	Limited elbow extension	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0001377	HP:0001377	Limited elbow extension	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15
HP:0001377	HP:0001377	Limited elbow extension	0	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:0001377	HP:0001377	Limited elbow extension	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0001377	HP:0001377	Limited elbow extension	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease	.	3
HP:0001377	HP:0001377	Limited elbow extension	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001377	HP:0001377	Limited elbow extension	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional	9
HP:0001377	HP:0001377	Limited elbow extension	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0001377	HP:0001377	Limited elbow extension	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001377	HP:0001377	Limited elbow extension	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0001377	HP:0001377	Limited elbow extension	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0001377	HP:0001377	Limited elbow extension	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0001377	HP:0005852	Limited elbow extension and supination	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0001377	HP:0005060	Limited elbow flexion/extension	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0001377	HP:0005060	Limited elbow flexion/extension	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0001377	HP:0005060	Limited elbow flexion/extension	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional	4
HP:0001377	HP:0005852	Limited elbow extension and supination	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0001377	HP:0005852	Limited elbow extension and supination	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98

Genes (50) :ABCC9 ATP7A B3GALT6 BGN CLCF1 COL2A1 COL9A3 COMP CRLF1 CSGALNACT1 DVL1 DYM ESCO2 EXOC6B EZH2 FBN1 FBN2 FGFR2 FGFR3 FLNA FLNB FZD2 GNB1 GPC6 HDAC8 ITCH KCNK9 LBR LMX1B MAPK1 MATN3 MED12 MMP13 NIPBL NPR2 OPA3 PCNT POR PPP2R3C RMRP RNU4ATAC RSPRY1 SF3B4 SFRP4 SPRED2 STAG1 TBX5 TFE3 TONSL WNT5A

Diseases (58) :OMIM:619719 OMIM:304150 ORPHA:93359 OMIM:300106 OMIM:610313 OMIM:271700 ORPHA:1856 OMIM:600969 ORPHA:750 OMIM:177170 OMIM:272430 OMIM:618870 OMIM:180700 ORPHA:239 OMIM:216100 OMIM:277590 OMIM:154700 OMIM:121050 OMIM:123790 OMIM:100800 ORPHA:15 OMIM:146000 OMIM:309350 OMIM:311300 OMIM:272460 OMIM:164745 OMIM:616973 OMIM:258315 OMIM:300882 OMIM:613385 ORPHA:166108 OMIM:618019 ORPHA:2614 OMIM:161200 OMIM:619087 OMIM:608728 ORPHA:156728 ORPHA:93932 OMIM:602111 OMIM:122470 OMIM:602875 ORPHA:67036 OMIM:210720 ORPHA:95699 OMIM:618419 OMIM:607095 ORPHA:175 OMIM:250250 OMIM:226960 ORPHA:457395 OMIM:154400 OMIM:265900 OMIM:619745 ORPHA:502434 OMIM:142900 OMIM:301066 ORPHA:93357 OMIM:271510

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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