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 upper limb epiphysis morphology (HP:0003839)

Grandparent Node:
Enlarged epiphyses (HP:0010580)

Parent Node:
Abnormality of the humeral epiphysis (HP:0003891)

Parent Node:
Wide epiphyses of the upper limbs (HP:0003904)

..Starting node
..Broad humeral epiphyses (HP:0003903)

Term ID:

3903

Name:

Broad humeral epiphyses

Synonym:

Wide end part of long bone in upper arm; Wide humeral epiphyses

Definition:

Increased width of the humeral epiphysis.

Comments:

Reference:

HP:0003903

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003903	HP:0003903	Broad humeral epiphyses	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.