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

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

..Starting node
..Anterior bowing of long bones (HP:0006473)

Term ID:

6473

Name:

Anterior bowing of long bones

Synonym:

Definition:

An abnormal anterior curvature of a long bone.

Comments:

Reference:

HP:0006473

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bowing of the arm (HP:0006488)

Bowing of the legs (HP:0002979)

Progressive bowing of long bones (HP:0006383)

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:0006473	HP:0006473	Anterior bowing of long bones	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345

Genes (1) :HSPG2

Diseases (1) :OMIM:255800

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