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:
Metaphyseal widening (HP:0003016)

Parent Node:
Dumbbell-shaped long bone (HP:0000947)

..Starting node
..Dumbbell-shaped humerus (HP:0005009)

Term ID:

5009

Name:

Dumbbell-shaped humerus

Synonym:

Dumbbell-shaped long bone in upper arm

Definition:

The humerus is shortened and displays flaring (widening) of the metaphyses.

Comments:

Reference:

HP:0005009

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dumbbell-shaped femur (HP:0006375)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005009	HP:0005009	Dumbbell-shaped humerus	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.