Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the upper limb (HP:0002817)help
Grandparent Node:
expandBowing of the long bones (HP:0006487)help
Parent Node:
expandAbnormal humerus morphology (HP:0031095)help
Parent Node:
expandBowing of the arm (HP:0006488)help
..Starting node
..expandBowed humerus (HP:0003865)help
Term ID: 3865
Name: Bowed humerus
Synonym: Bowed long bone in upper arm; Bowing of the humerus; Humeral bowing
Definition: A bending or abnormal curvature of the humerus.
Comments:
Reference: HP:0003865
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBowed forearm bones (HP:0003956) 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:0003865HP:0003865Bowed humerus0B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0003865HP:0003865Bowed humerus0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0003865HP:0003865Bowed humerus0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0003865HP:0003865Bowed humerus0LAMA5 CL E G H39116485OMIM:6200765
HP:0003865HP:0003865Bowed humerus0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0003865HP:0003865Bowed humerus0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0003865HP:0003865Bowed humerus0RSPO2 CL E G H34041928583OMIM:618022Humerofemoral hypoplasia with radiotibial ray deficiency.


Genes (7) :B3GALT6 FLNB KIAA0753 LAMA5 LBR RNU4ATAC RSPO2

Diseases (7) :OMIM:609465 OMIM:272460 OMIM:619479 OMIM:620076 OMIM:618019 OMIM:210710 OMIM:618022
 

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