Human Phenotype Ontology 
Grandparent Node:
expand
Growth abnormality (HP:0001507)help
Parent Node:
expand
Abnormality of the upper limb (HP:0002817)help
Parent Node:
expand
Asymmetric growth (HP:0100555)help
..Starting node
..expand
Upper limb asymmetry (HP:0100560)help
Term ID: 100560
Name: Upper limb asymmetry
Synonym: Unequal size of arms
Definition: Difference in length or size between the right and left arm.
Comments:
Reference: HP:0100560
Genes and Diseases:
 
       Child Nodes:
........expandHemihypertrophy of upper limb (HP:0100554) help
........expandHemiatrophy of upper limb (HP:0100558) help

 Sister Nodes: 
..expandHemiatrophy (HP:0100556) help
..expandHemihypertrophy (HP:0001528) help
..expandLower limb asymmetry (HP:0100559) 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:0100560HP:0100560Upper limb asymmetry0ACTB CL E G H60132ORPHA:64755Becker nevus syndromeHP:0040283 - Occasional72
HP:0100560HP:0100560Upper limb asymmetry0AGGF1 CL E G H5510924684ORPHA:90308Klippel-Trénaunay syndromeHP:0040281 - Very frequent1
HP:0100560HP:0100560Upper limb asymmetry0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040281 - Very frequent54
HP:0100560HP:0100560Upper limb asymmetry0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0100560HP:0100560Upper limb asymmetry0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent4
HP:0100560HP:0100560Upper limb asymmetry0HOXD13 CL E G H32395136ORPHA:93387Brachydactyly type EHP:0040283 - Occasional25
HP:0100560HP:0100560Upper limb asymmetry0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent9
HP:0100560HP:0100560Upper limb asymmetry0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0100560HP:0100560Upper limb asymmetry0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040281 - Very frequent20
HP:0100560HP:0100560Upper limb asymmetry0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040281 - Very frequent948
HP:0100560HP:0100560Upper limb asymmetry0PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeHP:0040281 - Very frequent948
HP:0100560HP:0100560Upper limb asymmetry0PTHLH CL E G H57449607ORPHA:93387Brachydactyly type EHP:0040283 - Occasional6
HP:0100560HP:0100560Upper limb asymmetry0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0100560HP:0100558Hemiatrophy of upper limb1 CL E G H
HP:0100560HP:0100554Hemihypertrophy of upper limb1 CL E G H


Genes (12) :ACTB AGGF1 AKT1 EBP H19 HOXD13 IGF2 MAPRE2 PORCN PTEN PTHLH TUBB

Diseases (9) :ORPHA:64755 ORPHA:90308 ORPHA:744 ORPHA:35173 ORPHA:231140 ORPHA:93387 ORPHA:2505 ORPHA:2092 ORPHA:137608
 

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