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:
Abnormality of the elbow (HP:0009811)

Grandparent Node:
Abnormality of upper limb epiphysis morphology (HP:0003839)

Parent Node:
Abnormality of radial epiphyses (HP:0003999)

Parent Node:
Abnormality of the epiphyses of the elbow (HP:0003946)

..Starting node
..Abnormality of the proximal radial epiphysis (HP:0010596)

Term ID:

10596

Name:

Abnormality of the proximal radial epiphysis

Synonym:

Definition:

Any abnormality of the proximal epiphysis of the radius.

Comments:

Reference:

HP:0010596

Genes and Diseases:

Child Nodes:

........

Absent proximal radial epiphyses (HP:0005093)

Sister Nodes:

Abnormal proximal ulnar epiphysis morphology (HP:0010601)

Abnormality of the distal humeral epiphysis (HP:0010599)

Delayed elbow epiphyseal ossification (HP:0003947)

Irregular epiphyses of the elbow (HP:0003948)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010596	HP:0010596	Abnormality of the proximal radial epiphysis	0	CL E G H
HP:0010596	HP:0005093	Absent proximal radial epiphyses	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.