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 diaphysis morphology (HP:0000940)

Grandparent Node:
Increased density of long bones (HP:0006392)

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

Parent Node:
Diaphyseal sclerosis (HP:0003034)

..Starting node
..Diaphyseal sclerosis of the upper limbs (HP:0003860)

Term ID:

3860

Name:

Diaphyseal sclerosis of the upper limbs

Synonym:

Increased bone density in central part of long bone of upper limbs

Definition:

An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.

Comments:

Reference:

HP:0003860

Genes and Diseases:

Child Nodes:

........

Sclerosis of humeral diaphysis (HP:0003933)

Sister Nodes:

Diaphyseal cortical sclerosis (HP:0005045)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003860	HP:0003860	Diaphyseal sclerosis of the upper limbs	0	CL E G H
HP:0003860	HP:0003933	Sclerosis of humeral 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.