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 enchondral ossification (HP:0003336)

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

Parent Node:
Abnormal humeral metaphysis morphology (HP:0003907)

Parent Node:
Abnormal humeral ossification (HP:0012791)

..Starting node
..Irregular ossification of humeral metaphyses (HP:0003914)

Term ID:

3914

Name:

Irregular ossification of humeral metaphyses

Synonym:

Irregular bone maturation of the wide portion of the long bone in upper arm

Definition:

Comments:

Reference:

HP:0003914

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent humeral epiphyseal ossification (HP:0003892)

Irregular ossification of the humeral epiphyses (HP:0003897)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003914	HP:0003914	Irregular ossification of humeral metaphyses	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.