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:
Abnormality of femur morphology (HP:0002823)

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

Parent Node:
Femoral bowing (HP:0002980)

..Starting node
..Distal femoral bowing (HP:0005096)

Term ID:

5096

Name:

Distal femoral bowing

Synonym:

Definition:

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

Comments:

Reference:

HP:0005096

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Lateral femoral bowing (HP:0005090)

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:0005096	HP:0005096	Distal femoral bowing	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0005096	HP:0005096	Distal femoral bowing	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0005096	HP:0005096	Distal femoral bowing	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0005096	HP:0005096	Distal femoral bowing	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2

Genes (4) :DMP1 ENPP1 GDF5 RSPRY1

Diseases (3) :ORPHA:289176 OMIM:201250 ORPHA:457395

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