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:
Abnormality of tibia morphology (HP:0002992)

Grandparent Node:
Bowing of the legs (HP:0002979)

Parent Node:
Abnormality of the ankles (HP:0003028)

Parent Node:
Tibial bowing (HP:0002982)

..Starting node
..Distal tibial bowing (HP:0006414)

Term ID:

6414

Name:

Distal tibial bowing

Synonym:

Bowing of the distal tibia; Tibial bowing at ankle

Definition:

A bending or abnormal curvature of the distal portion of the tibia.

Comments:

Reference:

HP:0006414

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior tibial bowing (HP:0006390)

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:0006414	HP:0006414	Distal tibial bowing	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79

Genes (1) :COL10A1

Diseases (1) :OMIM:156500

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