Human Phenotype Ontology 
Grandparent Node:
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Growth abnormality (HP:0001507)help
Parent Node:
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Abnormality of the lower limb (HP:0002814)help
Parent Node:
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Asymmetric growth (HP:0100555)help
..Starting node
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Lower limb asymmetry (HP:0100559)help
Term ID: 100559
Name: Lower limb asymmetry
Synonym: Left and right leg differ in length or width; Leg length discrepancy
Definition: A difference in length or diameter between the left and right leg.
Comments:
Reference: HP:0100559
Genes and Diseases:
 
       Child Nodes:
........expandHemihypertrophy of lower limb (HP:0100553) help
........expandHemiatrophy of lower limb (HP:0100557) help

 Sister Nodes: 
..expandHemiatrophy (HP:0100556) help
..expandHemihypertrophy (HP:0001528) help
..expandUpper limb asymmetry (HP:0100560) 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:0100559HP:0100559Lower limb asymmetry0ACTB CL E G H60132ORPHA:64755Becker nevus syndromeHP:0040283 - Occasional72
HP:0100559HP:0100559Lower limb asymmetry0AGGF1 CL E G H5510924684ORPHA:90308Klippel-Trénaunay syndromeHP:0040281 - Very frequent1
HP:0100559HP:0100559Lower limb asymmetry0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040281 - Very frequent54
HP:0100559HP:0100559Lower limb asymmetry0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0100559HP:0100559Lower limb asymmetry0COL2A1 CL E G H12802200ORPHA:85198DysspondyloenchondromatosisHP:0040281 - Very frequent284
HP:0100559HP:0100559Lower limb asymmetry0COL2A1 CL E G H12802200ORPHA:86820Familial avascular necrosis of femoral headHP:0040282 - Frequent284
HP:0100559HP:0100559Lower limb asymmetry0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional284
HP:0100559HP:0100559Lower limb asymmetry0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0100559HP:0100559Lower limb asymmetry0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0100559HP:0100559Lower limb asymmetry0DMP1 CL E G H17582932ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040281 - Very frequent48
HP:0100559HP:0100559Lower limb asymmetry0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0100559HP:0100559Lower limb asymmetry0ENPP1 CL E G H51673356ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040281 - Very frequent151
HP:0100559HP:0100559Lower limb asymmetry0EXT1 CL E G H21313512ORPHA:321Multiple osteochondromasHP:0040283 - Occasional96
HP:0100559HP:0100559Lower limb asymmetry0EXT2 CL E G H21323513ORPHA:321Multiple osteochondromasHP:0040283 - Occasional102
HP:0100559HP:0100559Lower limb asymmetry0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional9
HP:0100559HP:0100559Lower limb asymmetry0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0100559HP:0100559Lower limb asymmetry0GNAQ CL E G H27764390ORPHA:624Familial multiple nevi flammeiHP:0040283 - Occasional7
HP:0100559HP:0100559Lower limb asymmetry0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0100559HP:0100559Lower limb asymmetry0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent4
HP:0100559HP:0100559Lower limb asymmetry0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0100559HP:0100559Lower limb asymmetry0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent9
HP:0100559HP:0100559Lower limb asymmetry0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0100559HP:0100559Lower limb asymmetry0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0100559HP:0100559Lower limb asymmetry0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome.196
HP:0100559HP:0100559Lower limb asymmetry0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0100559HP:0100559Lower limb asymmetry0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0100559HP:0100559Lower limb asymmetry0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0100559HP:0100559Lower limb asymmetry0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0100559HP:0100559Lower limb asymmetry0MNX1 CL E G H31104979ORPHA:1552Currarino syndromeHP:0040283 - Occasional17
HP:0100559HP:0100559Lower limb asymmetry0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0100559HP:0100559Lower limb asymmetry0PIK3CA CL E G H52908975OMIM:612918Congenital lipomatous overgrowth, vascular malformations, and epidermal neviHP:0040283 - Occasional162
HP:0100559HP:0100559Lower limb asymmetry0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040281 - Very frequent20
HP:0100559HP:0100559Lower limb asymmetry0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0100559HP:0100559Lower limb asymmetry0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0100559HP:0100559Lower limb asymmetry0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040281 - Very frequent948
HP:0100559HP:0100559Lower limb asymmetry0PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040281 - Very frequent948
HP:0100559HP:0100559Lower limb asymmetry0PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeHP:0040281 - Very frequent948
HP:0100559HP:0100559Lower limb asymmetry0RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndrome88
HP:0100559HP:0100559Lower limb asymmetry0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0100559HP:0100559Lower limb asymmetry0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0100559HP:0100559Lower limb asymmetry0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040283 - Occasional34
HP:0100559HP:0100559Lower limb asymmetry0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0100559HP:0100559Lower limb asymmetry0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0100559HP:0100559Lower limb asymmetry0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0100559HP:0100559Lower limb asymmetry0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0100559HP:0100559Lower limb asymmetry0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0100559HP:0100559Lower limb asymmetry0TRPV4 CL E G H5934118083ORPHA:86820Familial avascular necrosis of femoral headHP:0040282 - Frequent214
HP:0100559HP:0100559Lower limb asymmetry0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0100559HP:0100559Lower limb asymmetry0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0100559HP:0100559Lower limb asymmetry0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted27
HP:0100559HP:0100557Hemiatrophy of lower limb1 CL E G H
HP:0100559HP:0100553Hemihypertrophy of lower limb1RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndromeHP:0040282 - Frequent88


Genes (45) :ACTB AGGF1 AKT1 CASZ1 COL2A1 CTSK DACT1 DMP1 EBP ENPP1 EXT1 EXT2 FN1 GABRD GNAQ GRB10 H19 HSPG2 IGF2 KAT6A KCNAB2 KRAS LUZP1 MAPK1 MAPRE2 MMP23B MNX1 PDPN PIK3CA PORCN PRDM16 PRKCZ PTEN RASA1 RERE SALL1 SATB2 SETD5 SKI SPEN TONSL TRPV4 TUBB UBE4B USP9X

Diseases (30) :ORPHA:64755 ORPHA:90308 ORPHA:744 ORPHA:1606 ORPHA:85198 ORPHA:86820 ORPHA:93315 ORPHA:763 ORPHA:857 ORPHA:289176 ORPHA:35173 ORPHA:321 ORPHA:624 ORPHA:96182 ORPHA:231140 OMIM:616268 OMIM:600268 OMIM:619087 ORPHA:2505 ORPHA:1552 OMIM:612918 ORPHA:2092 ORPHA:2969 ORPHA:137608 ORPHA:90307 ORPHA:576283 ORPHA:404440 OMIM:615761 ORPHA:93357 OMIM:300968
 

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