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:
Deviation of the hand or of fingers of the hand (HP:0009484)

Parent Node:
Radial deviation of the hand or of fingers of the hand (HP:0009485)

..Starting node
..Radial deviation of the hand (HP:0009486)

Term ID:

9486

Name:

Radial deviation of the hand

Synonym:

Radial deviation of hands

Definition:

An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).

Comments:

Reference:

HP:0009486

Genes and Diseases:

Child Nodes:

........

Radial club hand (HP:0004059)

........

Radially deviated wrists (HP:0006190)

Sister Nodes:

Radial deviation of finger (HP:0009466)

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:0009486	HP:0009486	Radial deviation of the hand	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0009486	HP:0009486	Radial deviation of the hand	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0009486	HP:0009486	Radial deviation of the hand	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0009486	HP:0009486	Radial deviation of the hand	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		137
HP:0009486	HP:0009486	Radial deviation of the hand	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0009486	HP:0009486	Radial deviation of the hand	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0009486	HP:0009486	Radial deviation of the hand	0	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly		8
HP:0009486	HP:0009486	Radial deviation of the hand	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009486	HP:0009486	Radial deviation of the hand	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0009486	HP:0009486	Radial deviation of the hand	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0009486	HP:0009486	Radial deviation of the hand	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0009486	HP:0009486	Radial deviation of the hand	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0009486	HP:0006190	Radially deviated wrists	1	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0009486	HP:0006190	Radially deviated wrists	1	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0009486	HP:0006190	Radially deviated wrists	1	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	137
HP:0009486	HP:0004059	Radial club hand	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0009486	HP:0006190	Radially deviated wrists	1	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly	.	8
HP:0009486	HP:0004059	Radial club hand	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent	86
HP:0009486	HP:0004059	Radial club hand	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8

Genes (11) :BGN COL9A1 COL9A2 COL9A3 EIF4A3 GLI3 PITX1 RBM8A SALL4 SAMD9 ZC4H2

Diseases (10) :OMIM:300106 ORPHA:166002 OMIM:268305 ORPHA:93322 OMIM:186550 OMIM:274000 ORPHA:959 OMIM:607323 OMIM:617053 OMIM:301041

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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