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:
Abnormal long bone morphology (HP:0011314)

Grandparent Node:
Abnormal morphology of the radius (HP:0002818)

Grandparent Node:
Obsolete Abnormal forearm bone morphology (HP:0040073)

Parent Node:
Abnormal bone structure (HP:0003330)

Parent Node:
obsolete Abnormal morphology of the radius (HP:0045009)

..Starting node
..Radial dysplasia (HP:0006433)

Term ID:

6433

Name:

Radial dysplasia

Synonym:

Dysplastic radii; Radial longitudinal deficiency

Definition:

Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.

Comments:

Reference:

HP:0006433

Genes and Diseases:

Child Nodes:

........

Asymmetric radial dysplasia (HP:0006420)

Sister Nodes:

Abnormal shape of the radius (HP:0045008)

Broad radius (HP:0003981)

Constricted radius (HP:0003976)

Deformed radius (HP:0003977)

Elongated radius (HP:0006424)

Fractured radius (HP:0003978)

Hypoplasia of the radius (HP:0002984)

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:0006433	HP:0006433	Radial dysplasia	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0006433	HP:0006433	Radial dysplasia	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0006433	HP:0006433	Radial dysplasia	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0006433	HP:0006420	Asymmetric radial dysplasia	1	CL E G H
HP:0006433	HP:0004059	Radial club hand	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0006433	HP:0004059	Radial club hand	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent	86
HP:0006433	HP:0004059	Radial club hand	1	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.

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