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 widening (HP:0003016)

Parent Node:
Abnormal radial metaphysis morphology (HP:0004015)

Parent Node:
Broad radius (HP:0003981)

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

..Starting node
..Broad radial metaphysis (HP:0004026)

Term ID:

4026

Name:

Broad radial metaphysis

Synonym:

Wide radial metaphysis

Definition:

Increase in width (breadth) of the radial metaphysis.

Comments:

Reference:

HP:0004026

Genes and Diseases:

Child Nodes:

Sister Nodes:

Flared upper limb metaphysis (HP:0003849)

Wide ulnar metaphysis (HP:0004047)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004026	HP:0004026	Broad radial metaphysis	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.