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

Parent Node:
Aplasia/Hypoplasia of the radius (HP:0006501)

Parent Node:
Radial deviation of the hand (HP:0009486)

..Starting node
..Radial club hand (HP:0004059)

Term ID:

4059

Name:

Radial club hand

Synonym:

Definition:

Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.

Comments:

Reference:

HP:0004059

Genes and Diseases:

Child Nodes:

Sister Nodes:

Radially deviated wrists (HP:0006190)

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:0004059	HP:0004059	Radial club hand	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0004059	HP:0004059	Radial club hand	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent	86
HP:0004059	HP:0004059	Radial club hand	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8

Genes (3) :GLI3 SALL4 SAMD9

Diseases (3) :ORPHA:93322 ORPHA:959 OMIM:617053

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