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

Grandparent Node:
Forearm undergrowth (HP:0009821)

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

Parent Node:
Hypoplasia of the radius (HP:0002984)

..Starting node
..Hypoplasia of proximal radius (HP:0006434)

Term ID:

6434

Name:

Hypoplasia of proximal radius

Synonym:

Proximal radial shortening

Definition:

Proximal radial shortening owing to a congenital defect of development.

Comments:

Reference:

HP:0006434

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0006434	HP:0006434	Hypoplasia of proximal radius	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0006434	HP:0006434	Hypoplasia of proximal radius	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0006434	HP:0006434	Hypoplasia of proximal radius	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16

Genes (3) :AFF4 ATR RBM10

Diseases (3) :ORPHA:444077 OMIM:210600 ORPHA:2886

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