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 femur morphology (HP:0002823)

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

Parent Node:
Femoral bowing (HP:0002980)

..Starting node
..Lateral femoral bowing (HP:0005090)

Term ID:

5090

Name:

Lateral femoral bowing

Synonym:

Definition:

A lateral bending or abnormal curvature of the femur.

Comments:

Reference:

HP:0005090

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal femoral bowing (HP:0005096)

Femoral bowing present at birth, straightening with time (HP:0005005)

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:0005090	HP:0005090	Lateral femoral bowing	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0005090	HP:0005090	Lateral femoral bowing	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44

Genes (2) :FLNA TNFRSF11B

Diseases (2) :OMIM:311300 OMIM:239000

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