Human Phenotype Ontology 
Grandparent Node:
expandAbnormal appendicular skeleton morphology (HP:0011844)help
Grandparent Node:
expandAbnormality of limb bone (HP:0040068)help
Parent Node:
expandAbnormal lower limb bone morphology (HP:0040069)help
Parent Node:
expandAbnormality of limb bone morphology (HP:0002813)help
..Starting node
..expandobsolete Abnormal morphology of bones of the lower limbs (HP:0040066)help
Term ID: 40066
Name: obsolete Abnormal morphology of bones of the lower limbs
Synonym:
Definition:
Comments:
Reference: HP:0040066
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of femur morphology (HP:0002823) help
................... HP:0002980 Femoral bowing
................... HP:0003366 Abnormality of the femoral neck or head region
................... HP:0004975 Erlenmeyer flask deformity of the femurs
................... HP:0005613 Aplasia/hypoplasia of the femur
................... HP:0006375 Dumbbell-shaped femur
................... HP:0006384 Club-shaped distal femur
................... HP:0006406 Club-shaped proximal femur
................... HP:0006408 Distal tapering femur
................... HP:0006432 Trapezoidal distal femoral condyles
................... HP:0006437 Disproportionate prominence of the femoral medial condyle
................... HP:0006489 Abnormality of the femoral metaphysis
................... HP:0006499 Abnormality of femoral epiphysis
................... HP:0010443 Bifid femur
................... HP:0012427 Excessive femoral anteversion
................... HP:0031069 Abnormal femoral torsion
................... HP:0031163 Low femoral bone density
................... HP:0031171 Femoral spur
................... HP:0031846 Femur fracture
........expandAbnormality of fibula morphology (HP:0002991) help
................... HP:0003085 Long fibula
................... HP:0003099 Fibular overgrowth
................... HP:0005928 Synostosis involving the fibula
................... HP:0006492 Aplasia/Hypoplasia of the fibula
................... HP:0010502 Fibular bowing
................... HP:0010503 Fibular duplication
................... HP:0012107 Increased fibular diameter
................... HP:0030045 Serpentine fibula
................... HP:0031107 Decreased fibular diameter
................... HP:0100535 Tibiofibular diastasis
........expandAbnormality of tibia morphology (HP:0002992) help
................... HP:0002982 Tibial bowing
................... HP:0003832 Abnormality of the tibial plateaux
................... HP:0005772 Aplasia/Hypoplasia of the tibia
................... HP:0005929 Synostosis involving the tibia
................... HP:0006491 Abnormality of the tibial metaphysis
................... HP:0006508 Abnormality of tibial epiphyses
................... HP:0009736 Tibial pseudoarthrosis
................... HP:0010504 Increased length of the tibia
................... HP:0010890 Morbus Osgood-Schlatter
................... HP:0031173 Tibial spur
................... HP:0031260 Triangular tibia
................... HP:0100535 Tibiofibular diastasis
................... HP:0100694 Tibial torsion
........expandBroad phalanx of the toes (HP:0010174) help
................... HP:0010059 Broad hallux phalanx
................... HP:0010186 Broad distal phalanx of the toes
................... HP:0010195 Broad middle phalanges of the toes
................... HP:0010204 Broad proximal phalanx of toe
................... HP:0010348 Broad phalanges of the 2nd toe
................... HP:0010360 Broad phalanges of the 3rd toe
................... HP:0010372 Broad phalanges of the 4th toe
................... HP:0010384 Broad phalanges of the 5th toe
........expandShort metatarsal (HP:0010743) help
................... HP:0004686 Short third metatarsal
................... HP:0004689 Short fourth metatarsal
................... HP:0004704 Short fifth metatarsal
................... HP:0010105 Short first metatarsal
................... HP:0011845 Short second metatarsal

 Sister Nodes: 
..expandAbnormal digit morphology (HP:0011297) help
..expandAbnormal limb epiphysis morphology (HP:0006505) help
..expandAbnormal metaphysis morphology (HP:0000944) help
..expandAbnormal radial ray morphology (HP:0410049) help
..expandAbsent ray (HP:0030030) help
..expandAcromicria (HP:0031878) help
..expandAplasia/hypoplasia involving bones of the extremities (HP:0045060) help
..expandEctrodactyly (HP:0100257) help
..expandLimb duplication (HP:0100524) help
..expandobsolete Abnormal morphology of bones of the upper limbs (HP:0040065) help
..expandobsolete Anomaly of the limb diaphyses morphology (HP:0006504) help
..expandSubperiosteal bone resorption (HP:0003106) 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:0040066HP:0040066obsolete Abnormal morphology of bones of the lower limbs0 CL E G H


Genes (0) :

Diseases (0) :
 

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