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

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

..Starting node
..Increased femoral anteversion (HP:0012427)

Term ID:

12427

Name:

Increased femoral anteversion

Synonym:

Excessive femoral anteversion; Increased femoral neck anteversion; Internally rotated hips

Definition:

An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward.

Comments:

Reference:

HP:0012427

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)

Bifid femur (HP:0010443)

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)

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:0012427	HP:0012427	Increased femoral anteversion	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0012427	HP:0012427	Increased femoral anteversion	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166

Genes (2) :MADD SLC26A2

Diseases (2) :OMIM:619005 ORPHA:56304

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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