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:
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:
Deformed forearm bones (HP:0003959)

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

..Starting node
..Deformed radius (HP:0003977)

Term ID:

3977

Name:

Deformed radius

Synonym:

Definition:

Comments:

Reference:

HP:0003977

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal shape of the radius (HP:0045008)

Broad radius (HP:0003981)

Constricted radius (HP:0003976)

Elongated radius (HP:0006424)

Fractured radius (HP:0003978)

Hypoplasia of the radius (HP:0002984)

Radial dysplasia (HP:0006433)

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:0003977	HP:0003977	Deformed radius	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	96
HP:0003977	HP:0003977	Deformed radius	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	102
HP:0003977	HP:0003977	Deformed radius	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100

Genes (3) :EXT1 EXT2 TBX3

Diseases (2) :ORPHA:321 OMIM:181450

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