Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of upper limb joint (HP:0009810)help
Parent Node:
expandAbnormal upper limb metaphysis morphology (HP:0009809)help
Parent Node:
expandAbnormality of the elbow (HP:0009811)help
..Starting node
..expandAbnormal elbow metaphysis morphology (HP:0003949)help
Term ID: 3949
Name: Abnormal elbow metaphysis morphology
Synonym: Abnormal wide portion of elbow bone
Definition:
Comments:
Reference: HP:0003949
Genes and Diseases:
 
       Child Nodes:
........expandFlared elbow metaphyses (HP:0003950) help
........expandDistal humeral metaphyseal irregularity (HP:0003951) help
........expandSclerotic foci of metaphyses of the elbow (HP:0003952) help

 Sister Nodes: 
..expandAbnormality of the epiphyses of the elbow (HP:0003946) help
..expandAbnormality of the humeroradial joint (HP:0100744) help
..expandAbnormality of the humeroulnar joint (HP:0100745) help
..expandAbnormality of the joint spaces of the elbow (HP:0003943) help
..expandCubitus valgus (HP:0002967) help
..expandCubitus varus (HP:0025317) help
..expandElbow ankylosis (HP:0003070) help
..expandElbow dislocation (HP:0003042) help
..expandIncreased carrying angle (HP:0003102) help
..expandIrregular articular surfaces of the elbow joints (HP:0003945) help
..expandLarge elbow (HP:0030865) help
..expandLimited elbow movement (HP:0002996) help
..expandOsteoarthritis of the elbow (HP:0003940) help
..expandStippled calcification of the elbow (HP:0003941) help
..expandSynostosis involving the elbow (HP:0003938) help
..expandSynovial chondromatosis of the elbow (HP:0003942) 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:0003949HP:0003949Abnormal elbow metaphysis morphology0 CL E G H
HP:0003949HP:0003952Sclerotic foci of metaphyses of the elbow1 CL E G H
HP:0003949HP:0003951Distal humeral metaphyseal irregularity1 CL E G H
HP:0003949HP:0003950Flared elbow metaphyses1 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.