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:
Bowing of the long bones (HP:0006487)

Parent Node:
Progressive bowing of long bones (HP:0006383)

..Starting node
..Progressive leg bowing (HP:0006409)

Term ID:

6409

Name:

Progressive leg bowing

Synonym:

Definition:

Progressive bending or abnormal curvature of the leg.

Comments:

Reference:

HP:0006409

Genes and Diseases:

Child Nodes:

Sister Nodes:

Progressive forearm bowing (HP:0005891)

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:0006409	HP:0006409	Progressive leg bowing	0	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type	HP:0040281 - Very frequent	52
HP:0006409	HP:0006409	Progressive leg bowing	0	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type	.	52

Genes (1) :MMP13

Diseases (2) :ORPHA:2501 OMIM:250400

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