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
..Club-shaped proximal femur (HP:0006406)

Term ID:

6406

Name:

Club-shaped proximal femur

Synonym:

Club-shaped innermost end of thighbone

Definition:

An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.

Comments:

Reference:

HP:0006406

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)

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:0006406	HP:0006406	Club-shaped proximal femur	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0006406	HP:0006406	Club-shaped proximal femur	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233

Genes (2) :COL2A1 FLNB

Diseases (2) :OMIM:184250 OMIM:108720

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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