Human Phenotype Ontology

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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:
Upper extremity joint dislocation (HP:0030310)

Parent Node:
Abnormality of the humeroradial joint (HP:0100744)

Parent Node:
Abnormality of the radial head (HP:0003995)

Parent Node:
Elbow dislocation (HP:0003042)

..Starting node
..Dislocated radial head (HP:0003083)

Term ID:

3083

Name:

Dislocated radial head

Synonym:

Congenital radial head dislocation; Dislocated radial heads; Dislocated radius; Dislocation of radial head; Dislocation of the radial head; Radial dislocation; Radial head dislocation; Radial head dislocation/subluxation

Definition:

A dislocation of the head of the radius from its socket in the elbow joint.

Comments:

Reference:

HP:0003083

Genes and Diseases:

Child Nodes:

........

Anterolateral radial head dislocation (HP:0005050)

........

Proximal radial head dislocation (HP:0005070)

........

Anterior radial head dislocation (HP:0005084)

........

Posterior radial head dislocation (HP:0005798)

........

Ulnar radial head dislocation (HP:0005856)

Sister Nodes:

Bilateral elbow dislocations (HP:0005021)

Radial head subluxation (HP:0003048)

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:0003083	HP:0003083	Dislocated radial head	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0003083	HP:0003083	Dislocated radial head	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0003083	HP:0003083	Dislocated radial head	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0003083	HP:0003083	Dislocated radial head	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0003083	HP:0003083	Dislocated radial head	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional	38
HP:0003083	HP:0003083	Dislocated radial head	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0003083	HP:0003083	Dislocated radial head	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:0003083	HP:0003083	Dislocated radial head	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0003083	HP:0003083	Dislocated radial head	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional	49
HP:0003083	HP:0003083	Dislocated radial head	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0003083	HP:0003083	Dislocated radial head	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040282 - Frequent	83
HP:0003083	HP:0003083	Dislocated radial head	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0003083	HP:0003083	Dislocated radial head	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0003083	HP:0003083	Dislocated radial head	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:0003083	HP:0003083	Dislocated radial head	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0003083	HP:0003083	Dislocated radial head	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0003083	HP:0003083	Dislocated radial head	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0003083	HP:0003083	Dislocated radial head	0	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome	.	1
HP:0003083	HP:0003083	Dislocated radial head	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0003083	HP:0003083	Dislocated radial head	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0003083	HP:0003083	Dislocated radial head	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0003083	HP:0003083	Dislocated radial head	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	.	9
HP:0003083	HP:0003083	Dislocated radial head	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0003083	HP:0003083	Dislocated radial head	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0003083	HP:0003083	Dislocated radial head	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0003083	HP:0003083	Dislocated radial head	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional	3
HP:0003083	HP:0003083	Dislocated radial head	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.	3
HP:0003083	HP:0003083	Dislocated radial head	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0003083	HP:0003083	Dislocated radial head	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0003083	HP:0003083	Dislocated radial head	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0003083	HP:0003083	Dislocated radial head	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0003083	HP:0003083	Dislocated radial head	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0003083	HP:0003083	Dislocated radial head	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0003083	HP:0003083	Dislocated radial head	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0003083	HP:0003083	Dislocated radial head	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V		8
HP:0003083	HP:0003083	Dislocated radial head	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0003083	HP:0003083	Dislocated radial head	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0003083	HP:0003083	Dislocated radial head	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0003083	HP:0003083	Dislocated radial head	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0003083	HP:0003083	Dislocated radial head	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0003083	HP:0003083	Dislocated radial head	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0003083	HP:0003083	Dislocated radial head	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0003083	HP:0003083	Dislocated radial head	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.	134
HP:0003083	HP:0003083	Dislocated radial head	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040283 - Occasional	15
HP:0003083	HP:0003083	Dislocated radial head	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0003083	HP:0003083	Dislocated radial head	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0003083	HP:0003083	Dislocated radial head	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature		66
HP:0003083	HP:0003083	Dislocated radial head	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0003083	HP:0003083	Dislocated radial head	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0003083	HP:0003083	Dislocated radial head	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0003083	HP:0003083	Dislocated radial head	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0003083	HP:0003083	Dislocated radial head	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0003083	HP:0003083	Dislocated radial head	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0003083	HP:0003083	Dislocated radial head	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0003083	HP:0005798	Posterior radial head dislocation	1	CL E G H
HP:0003083	HP:0005070	Proximal radial head dislocation	1	CL E G H
HP:0003083	HP:0005050	Anterolateral radial head dislocation	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0003083	HP:0005084	Anterior radial head dislocation	1	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V		8
HP:0003083	HP:0005856	Ulnar radial head dislocation	1	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent	66

Genes (46) :AFF3 ARID1B ASXL1 ATR B3GALT6 B3GAT3 B4GALT7 BMP1 CD96 CDC45 CHRNG CHST3 CLCN3 COL1A1 COL27A1 COL5A1 COL5A2 CREBBP DONSON DVL1 EP300 ERCC1 EXOC6B EXTL3 FLNA FZD2 GPC6 GSC IFITM5 KIF22 LMX1B MAP3K7 NIPBL NOG NOTCH2 PRKAR1A RNU4ATAC ROR2 SCARF2 SHOX SKI SLC39A13 SOX9 SRCAP TBX15 WNT5A

Diseases (47) :OMIM:619297 OMIM:135900 OMIM:605039 OMIM:210600 ORPHA:93359 OMIM:271640 OMIM:245600 OMIM:130070 OMIM:614856 OMIM:211750 ORPHA:1308 OMIM:617063 OMIM:265000 OMIM:143095 OMIM:619512 ORPHA:287 OMIM:615155 OMIM:180849 OMIM:617604 OMIM:180700 OMIM:610758 OMIM:618395 OMIM:617425 OMIM:305620 ORPHA:1826 OMIM:311300 OMIM:164745 OMIM:258315 OMIM:602471 OMIM:610967 OMIM:603546 ORPHA:2614 OMIM:617137 OMIM:122470 OMIM:186500 OMIM:102500 OMIM:101800 ORPHA:1824 OMIM:268310 OMIM:600920 ORPHA:314795 OMIM:182212 OMIM:612350 OMIM:114290 ORPHA:2044 OMIM:136140 OMIM:260660

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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