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:
Flared metaphysis (HP:0003015)

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

Parent Node:
Abnormal elbow metaphysis morphology (HP:0003949)

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

..Starting node
..Flared elbow metaphyses (HP:0003950)

Term ID:

3950

Name:

Flared elbow metaphyses

Synonym:

Flared wide portion of elbow bone

Definition:

Comments:

Reference:

HP:0003950

Genes and Diseases:

Child Nodes:

Sister Nodes:

Flared humeral metaphysis (HP:0003911)

Flared radial metaphysis (HP:0004018)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003950	HP:0003950	Flared elbow metaphyses	0	CL E G H

Genes (0) :

Diseases (0) :

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