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

Term ID:

5005

Name:

Femoral bowing present at birth, straightening with time

Synonym:

Bowing of thighbone at birth, straightening with time

Definition:

Congenital onset bending or abnormal curvature of the femur that normalizes with age.

Comments:

Reference:

HP:0005005

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal femoral bowing (HP:0005096)

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:0005005	HP:0005005	Femoral bowing present at birth, straightening with time	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.	373
HP:0005005	HP:0005005	Femoral bowing present at birth, straightening with time	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.	243

Genes (2) :COL1A1 COL1A2

Diseases (1) :OMIM:166220

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