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 long bone morphology (HP:0011314)

Grandparent Node:
Increased bone mineral density (HP:0011001)

Parent Node:
Abnormality of the humerus (HP:0003063)

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

..Starting node
..Humeral sclerosis (HP:0003881)

Term ID:

3881

Name:

Humeral sclerosis

Synonym:

Increased bone density in long bone of upper arm; Sclerosis of humerus

Definition:

Comments:

Reference:

HP:0003881

Genes and Diseases:

Child Nodes:

........

Sclerotic foci of the humerus (HP:0003880)

Sister Nodes:

Diaphyseal sclerosis (HP:0003034)

Increased density of long bone diaphyses (HP:0006440)

Osteosclerosis of the ulna (HP:0003991)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003881	HP:0003881	Humeral sclerosis	0	CL E G H
HP:0003881	HP:0003880	Sclerotic foci of the humerus	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.