Human Phenotype Ontology

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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:
obsolete Abnormal morphology of bones of the lower limbs (HP:0040066)

Parent Node:
Abnormality of femur morphology (HP:0002823)

..Starting node
..Bifid femur (HP:0010443)

Term ID:

10443

Name:

Bifid femur

Synonym:

Notched thighbone; Split thighbone

Definition:

A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.

Comments:

Reference:

HP:0010443

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal femoral metaphysis morphology (HP:0006489)

Abnormal femoral neck/head morphology (HP:0003366)

Abnormal femoral torsion (HP:0031069)

Abnormality of femoral epiphysis (HP:0006499)

Aplasia/hypoplasia of the femur (HP:0005613)

Club-shaped distal femur (HP:0006384)

Club-shaped proximal femur (HP:0006406)

Disproportionate prominence of the femoral medial condyle (HP:0006437)

Distal tapering femur (HP:0006408)

Dumbbell-shaped femur (HP:0006375)

Erlenmeyer flask deformity of the femurs (HP:0004975)

Femoral bowing (HP:0002980)

Femoral spur (HP:0031171)

Femur fracture (HP:0031846)

Increased femoral anteversion (HP:0012427)

Low femoral bone density (HP:0031163)

Trapezoidal distal femoral condyles (HP:0006432)

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:0010443	HP:0010443	Bifid femur	0	BHLHA9 CL E G H	727857	35126	ORPHA:1986	Gollop-Wolfgang complex	HP:0040281 - Very frequent	4
HP:0010443	HP:0010443	Bifid femur	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0010443	HP:0010443	Bifid femur	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	HP:0040283 - Occasional	515
HP:0010443	HP:0010443	Bifid femur	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0010443	HP:0010443	Bifid femur	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16

Genes (4) :BHLHA9 CHD7 RNU4ATAC SEMA3E

Diseases (4) :ORPHA:1986 ORPHA:138 OMIM:214800 ORPHA:2636

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

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