Human Phenotype Ontology

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:
Flared metaphysis (HP:0003015)

Grandparent Node:
Upper limb metaphyseal widening (HP:0003856)

Parent Node:
Abnormal humeral metaphysis morphology (HP:0003907)

Parent Node:
Flared upper limb metaphysis (HP:0003849)

..Starting node
..Flared humeral metaphysis (HP:0003911)

Term ID:

3911

Name:

Flared humeral metaphysis

Synonym:

Flared humerus; Flared wide portion of long bone of upper arm; Wide/broad humeral metaphysis

Definition:

Flaring (increase of width with a splayed appearance) of the humeral metaphysis.

Comments:

Reference:

HP:0003911

Genes and Diseases:

Child Nodes:

Sister Nodes:

Flared elbow metaphyses (HP:0003950)

Flared radial metaphysis (HP:0004018)

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:0003911	HP:0003911	Flared humeral metaphysis	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0003911	HP:0003911	Flared humeral metaphysis	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214

Genes (2) :EZH2 TRPV4

Diseases (2) :OMIM:277590 OMIM:156530

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