Human Phenotype Ontology 
Grandparent Node:
expandobsolete Abnormal morphology of bones of the lower limbs (HP:0040066)help
Parent Node:
expandAbnormality of femur morphology (HP:0002823)help
..Starting node
..expandClub-shaped distal femur (HP:0006384)help
Term ID: 6384
Name: Club-shaped distal femur
Synonym: Club-shaped distal femora; Club-shaped outermost end of thighbone
Definition: An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.
Comments:
Reference: HP:0006384
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal femoral metaphysis morphology (HP:0006489) help
..expandAbnormal femoral neck/head morphology (HP:0003366) help
..expandAbnormal femoral torsion (HP:0031069) help
..expandAbnormality of femoral epiphysis (HP:0006499) help
..expandAplasia/hypoplasia of the femur (HP:0005613) help
..expandBifid femur (HP:0010443) help
..expandClub-shaped proximal femur (HP:0006406) help
..expandDisproportionate prominence of the femoral medial condyle (HP:0006437) help
..expandDistal tapering femur (HP:0006408) help
..expandDumbbell-shaped femur (HP:0006375) help
..expandErlenmeyer flask deformity of the femurs (HP:0004975) help
..expandFemoral bowing (HP:0002980) help
..expandFemoral spur (HP:0031171) help
..expandFemur fracture (HP:0031846) help
..expandIncreased femoral anteversion (HP:0012427) help
..expandLow femoral bone density (HP:0031163) help
..expandTrapezoidal distal femoral condyles (HP:0006432) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006384HP:0006384Club-shaped distal femur0ANKH CL E G H5617215492OMIM:123000Craniometaphyseal dysplasia, autosomal dominant.164
HP:0006384HP:0006384Club-shaped distal femur0FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type IIIHP:0040283 - Occasional233
HP:0006384HP:0006384Club-shaped distal femur0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive.68


Genes (3) :ANKH FLNB GJA1

Diseases (3) :OMIM:123000 ORPHA:56305 OMIM:218400
 

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