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 long bone morphology (HP:0011314)

Grandparent Node:
Thickened cortex of bones (HP:0100039)

Parent Node:
Thickened cortex of long bones (HP:0000935)

..Starting node
..Cortically dense long tubular bones (HP:0006415)

Term ID:

6415

Name:

Cortically dense long tubular bones

Synonym:

Definition:

Increased density of the compact bone of long bone.

Comments:

Reference:

HP:0006415

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cortical thickening of long bone diaphyses (HP:0005791)

Humeral cortical thickening (HP:0003868)

Massively thickened long bone cortices (HP:0005665)

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:0006415	HP:0006415	Cortically dense long tubular bones	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26

Genes (1) :SOST

Diseases (1) :OMIM:269500

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