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 upper limb (HP:0002817)

Grandparent Node:
obsolete Anomaly of the limb diaphyses morphology (HP:0006504)

Parent Node:
Abnormal morphology of the radius (HP:0002818)

Parent Node:
Anomaly of the upper limb diaphyses (HP:0009808)

..Starting node
..Abnormality of radial diaphysis (HP:0004027)

Term ID:

4027

Name:

Abnormality of radial diaphysis

Synonym:

Definition:

An anomaly of the radial diaphysis.

Comments:

Reference:

HP:0004027

Genes and Diseases:

Child Nodes:

........

Spurs of radial diaphysis (HP:0004028)

........

Lytic defects of radial diaphysis (HP:0004029)

........

Patchy sclerosis of radial diaphysis (HP:0004030)

........

Broad radial diaphysis (HP:0004031)

Sister Nodes:

Abnormal hand diaphysis morphology (HP:0005925)

Abnormal humeral diaphysis morphology (HP:0003926)

Broad diaphyses of the upper limbs (HP:0003861)

Cortical diaphyseal irregularity of the upper limbs (HP:0003858)

Cortical diaphyseal thickening of the upper limbs (HP:0003859)

Diaphyseal sclerosis of the upper limbs (HP:0003860)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004027	HP:0004027	Abnormality of radial diaphysis	0	CL E G H
HP:0004027	HP:0004031	Broad radial diaphysis	1	CL E G H
HP:0004027	HP:0004030	Patchy sclerosis of radial diaphysis	1	CL E G H
HP:0004027	HP:0004029	Lytic defects of radial diaphysis	1	CL E G H
HP:0004027	HP:0004028	Spurs of radial diaphysis	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.