Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 bone structure (HP:0003330)

Grandparent Node:
obsolete Abnormality of the periosteum (HP:0040166)

Parent Node:
Abnormal periosteum morphology (HP:0030313)

..Starting node
..Periostosis (HP:0030314)

Term ID:

30314

Name:

Periostosis

Synonym:

Definition:

Abnormal deposition of periosteal bone.

Comments:

Reference:

HP:0030314

Genes and Diseases:

Child Nodes:

........

Periosteal new bone of humerus (HP:0003878)

........

Periosteal new bone of humeral diaphysis (HP:0003931)

Sister Nodes:

Metacarpal periosteal thickening (HP:0006051)

Metatarsal periosteal thickening (HP:0008074)

Periosteal thickening of long tubular bones (HP:0006465)

Periostitis (HP:0040165)

Proximal phalangeal periosteal thickening (HP:0006175)

Subperiosteal bone formation (HP:0031485)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030314	HP:0030314	Periostosis	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2	.	13
HP:0030314	HP:0003931	Periosteal new bone of humeral diaphysis	1	CL E G H
HP:0030314	HP:0003878	Periosteal new bone of humerus	1	CL E G H

Genes (1) :SLCO2A1

Diseases (1) :OMIM:614441

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.