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 upper limb metaphysis morphology (HP:0009809)

Grandparent Node:
Metaphyseal irregularity (HP:0003025)

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

Parent Node:
Upper-limb metaphyseal irregularity (HP:0003850)

..Starting node
..Humeral metaphyseal irregularity (HP:0003913)

Term ID:

3913

Name:

Humeral metaphyseal irregularity

Synonym:

Irregular humeral metaphyses; Irregular wide portion of long bone in upper arm

Definition:

Comments:

Reference:

HP:0003913

Genes and Diseases:

Child Nodes:

........

Distal humeral metaphyseal irregularity (HP:0003951)

........

Proximal humeral metaphyseal irregularity (HP:0005043)

Sister Nodes:

Radial metaphyseal irregularity (HP:0004019)

Ulnar metaphyseal irregularity (HP:0004042)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003913	HP:0003913	Humeral metaphyseal irregularity	0	CL E G H
HP:0003913	HP:0005043	Proximal humeral metaphyseal irregularity	1	CL E G H
HP:0003913	HP:0003951	Distal humeral metaphyseal irregularity	1	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.