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 bone structure (HP:0003330)

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

Parent Node:
Abnormal long bone morphology (HP:0011314)

Parent Node:
Abnormal periosteum morphology (HP:0030313)

..Starting node
..Periosteal thickening of long tubular bones (HP:0006465)

Term ID:

6465

Name:

Periosteal thickening of long tubular bones

Synonym:

Definition:

Thickening of the periosteum of long bone.

Comments:

Reference:

HP:0006465

Genes and Diseases:

Child Nodes:

Sister Nodes:

Metacarpal periosteal thickening (HP:0006051)

Metatarsal periosteal thickening (HP:0008074)

Periostitis (HP:0040165)

Periostosis (HP:0030314)

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:0006465	HP:0006465	Periosteal thickening of long tubular bones	0	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease	.	373
HP:0006465	HP:0006465	Periosteal thickening of long tubular bones	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040282 - Frequent	373
HP:0006465	HP:0006465	Periosteal thickening of long tubular bones	0	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13

Genes (2) :COL1A1 SLCO2A1

Diseases (3) :OMIM:114000 ORPHA:1310 OMIM:167100

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