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:
obsolete Anomaly of the limb diaphyses morphology (HP:0006504)

Parent Node:
Bowing of the long bones (HP:0006487)

..Starting node
..Progressive bowing of long bones (HP:0006383)

Term ID:

6383

Name:

Progressive bowing of long bones

Synonym:

Definition:

Progressive bending or abnormal curvature of a long bone.

Comments:

Reference:

HP:0006383

Genes and Diseases:

Child Nodes:

........

Progressive forearm bowing (HP:0005891)

........

Progressive leg bowing (HP:0006409)

Sister Nodes:

Anterior bowing of long bones (HP:0006473)

Bowing of the arm (HP:0006488)

Bowing of the legs (HP:0002979)

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:0006383	HP:0006383	Progressive bowing of long bones	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0006383	HP:0006383	Progressive bowing of long bones	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0006383	HP:0006383	Progressive bowing of long bones	0	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type		52
HP:0006383	HP:0006383	Progressive bowing of long bones	0	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type		52
HP:0006383	HP:0005891	Progressive forearm bowing	1	CL E G H
HP:0006383	HP:0006409	Progressive leg bowing	1	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type	HP:0040281 - Very frequent	52
HP:0006383	HP:0006409	Progressive leg bowing	1	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type	.	52

Genes (3) :FLNA MAP3K7 MMP13

Diseases (3) :ORPHA:1826 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.