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 epiphyseal ossification (HP:0010656)

Grandparent Node:
Abnormal epiphysis morphology (HP:0005930)

Parent Node:
Abnormality of upper limb epiphysis morphology (HP:0003839)

Parent Node:
Delayed epiphyseal ossification (HP:0002663)

..Starting node
..Delayed upper limb epiphyseal ossification (HP:0003840)

Term ID:

3840

Name:

Delayed upper limb epiphyseal ossification

Synonym:

Delayed maturation fo the end part of the upper limb bone

Definition:

A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.

Comments:

Reference:

HP:0003840

Genes and Diseases:

Child Nodes:

........

Delayed humeral epiphyseal ossification (HP:0003894)

........

Delayed elbow epiphyseal ossification (HP:0003947)

Sister Nodes:

Delayed phalangeal epiphyseal ossification (HP:0006016)

Delayed proximal femoral epiphyseal ossification (HP:0008828)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003840	HP:0003840	Delayed upper limb epiphyseal ossification	0	CL E G H
HP:0003840	HP:0003947	Delayed elbow epiphyseal ossification	1	CL E G H
HP:0003840	HP:0003894	Delayed humeral epiphyseal ossification	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.