Human Phenotype Ontology 
Grandparent Node:
expandAbnormal appendicular skeleton morphology (HP:0011844)help
Grandparent Node:
expandAbnormality of limb bone (HP:0040068)help
Parent Node:
expandAbnormal diaphysis morphology (HP:0000940)help
Parent Node:
expandAbnormality of limb bone morphology (HP:0002813)help
..Starting node
..expandobsolete Anomaly of the limb diaphyses morphology (HP:0006504)help
Term ID: 6504
Name: obsolete Anomaly of the limb diaphyses morphology
Synonym: Abnormality of shaft of long bone of the limbs
Definition:
Comments:
Reference: HP:0006504
Genes and Diseases:
 
       Child Nodes:
........expandBroad long bone diaphyses (HP:0006371) help
........expandIncreased density of long bone diaphyses (HP:0006440) help
........expandThin long bone diaphyses (HP:0006470) help
........expandBowing of the long bones (HP:0006487) help
................... HP:0002979 Bowing of the legs
................... HP:0006383 Progressive bowing of long bones
................... HP:0006473 Anterior bowing of long bones
................... HP:0006488 Bowing of the arm
........expandAnomaly of the upper limb diaphyses (HP:0009808) help
................... HP:0003858 Cortical diaphyseal irregularity of the upper limbs
................... HP:0003859 Cortical diaphyseal thickening of the upper limbs
................... HP:0003860 Diaphyseal sclerosis of the upper limbs
................... HP:0003861 Broad diaphyses of the upper limbs
................... HP:0003926 Abnormality of the humeral diaphysis
................... HP:0004027 Abnormality of radial diaphysis
................... HP:0005925 Abnormalities of the diaphyses of the hand
........expandAnomaly of lower limb diaphyses (HP:0012699) help

 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 lower limbs (HP:0040066) help
..expandobsolete Abnormal morphology of bones of the upper limbs (HP:0040065) 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:0006504HP:0006504obsolete Anomaly of the limb diaphyses morphology0 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.