Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the calf (HP:0002981)help
Grandparent Node:
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Bowing of the long bones (HP:0006487)help
Parent Node:
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Abnormality of the knee (HP:0002815)help
Parent Node:
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Bowing of the legs (HP:0002979)help
..Starting node
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Genu varum (HP:0002970)help
Term ID: 2970
Name: Genu varum
Synonym: Genu vara; Genua vara; Outward bow-leggedness; Outward bowing at knees
Definition: A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
Comments:
Reference: HP:0002970
Genes and Diseases:
 
       Child Nodes:
........expandWind-swept deformity of the knees (HP:0100531) help

 Sister Nodes: 
..expandFemoral bowing (HP:0002980) help
..expandFibular bowing (HP:0010502) help
..expandGenu valgum (HP:0002857) help
..expandTibial bowing (HP:0002982) 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:0002970HP:0002970Genu varum0ACAN CL E G H176319OMIM:608361Spondyloepiphyseal dysplasia, Kimberley type.34
HP:0002970HP:0002970Genu varum0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional96
HP:0002970HP:0002970Genu varum0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040284 - Very rare2
HP:0002970HP:0002970Genu varum0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040282 - Frequent13
HP:0002970HP:0002970Genu varum0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0002970HP:0002970Genu varum0CANT1 CL E G H12458319721OMIM:617719EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM785
HP:0002970HP:0002970Genu varum0CCN6 CL E G H883812771OMIM:208230Arthropathy, progressive pseudorheumatoid, of childhood.
HP:0002970HP:0002970Genu varum0CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhoodHP:0040283 - Occasional
HP:0002970HP:0002970Genu varum0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional35
HP:0002970HP:0002970Genu varum0COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type.79
HP:0002970HP:0002970Genu varum0COL10A1 CL E G H13002185ORPHA:174Metaphyseal chondrodysplasia, Schmid typeHP:0040282 - Frequent79
HP:0002970HP:0002970Genu varum0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia284
HP:0002970HP:0002970Genu varum0COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance typeHP:0040282 - Frequent284
HP:0002970HP:0002970Genu varum0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040282 - Frequent284
HP:0002970HP:0002970Genu varum0COL2A1 CL E G H12802200OMIM:184255Spondylometaphyseal dysplasia, corner Fracture typeHP:0040284 - Very rare284
HP:0002970HP:0002970Genu varum0COL9A1 CL E G H12972217ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomalyHP:0040283 - Occasional110
HP:0002970HP:0002970Genu varum0COL9A2 CL E G H12982218OMIM:600204Epiphyseal dysplasia, multiple, 2.110
HP:0002970HP:0002970Genu varum0COL9A2 CL E G H12982218ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomalyHP:0040283 - Occasional110
HP:0002970HP:0002970Genu varum0COL9A3 CL E G H12992219ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomalyHP:0040283 - Occasional137
HP:0002970HP:0002970Genu varum0COMP CL E G H13112227ORPHA:93308Multiple epiphyseal dysplasia type 1HP:0040284 - Very rare89
HP:0002970HP:0002970Genu varum0COMP CL E G H13112227ORPHA:750PseudoachondroplasiaHP:0040283 - Occasional89
HP:0002970HP:0002970Genu varum0COMP CL E G H13112227OMIM:177170Pseudoachondroplasia89
HP:0002970HP:0002970Genu varum0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent41
HP:0002970HP:0002970Genu varum0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent5
HP:0002970HP:0002970Genu varum0CYP3A4 CL E G H15762637OMIM:619073VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR32
HP:0002970HP:0002970Genu varum0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0002970HP:0002970Genu varum0DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat typeHP:0040283 - Occasional
HP:0002970HP:0002970Genu varum0DMP1 CL E G H17582932ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040281 - Very frequent48
HP:0002970HP:0002970Genu varum0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0002970HP:0002970Genu varum0DYM CL E G H5480821317OMIM:607326Smith-Mccort dysplasia 1.65
HP:0002970HP:0002970Genu varum0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 2.1
HP:0002970HP:0002970Genu varum0ENPP1 CL E G H51673356ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040281 - Very frequent151
HP:0002970HP:0002970Genu varum0ENPP1 CL E G H51673356OMIM:613312Hypophosphatemic rickets, autosomal recessive, 2.151
HP:0002970HP:0002970Genu varum0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA.145
HP:0002970HP:0002970Genu varum0FGFR3 CL E G H22613690OMIM:146000HYPOCHONDROPLASIA.145
HP:0002970HP:0002970Genu varum0FGFR3 CL E G H22613690ORPHA:429HypochondroplasiaHP:0040282 - Frequent145
HP:0002970HP:0002970Genu varum0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040282 - Frequent9
HP:0002970HP:0002970Genu varum0FN1 CL E G H23353778OMIM:184255Spondylometaphyseal dysplasia, corner Fracture typeHP:0040284 - Very rare9
HP:0002970HP:0002970Genu varum0HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional55
HP:0002970HP:0002970Genu varum0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0002970HP:0002970Genu varum0IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0002970HP:0002970Genu varum0IHH CL E G H35495956ORPHA:63446Acrocapitofemoral dysplasiaHP:0040282 - Frequent44
HP:0002970HP:0002970Genu varum0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0002970HP:0002970Genu varum0KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocationsHP:0040282 - Frequent14
HP:0002970HP:0002970Genu varum0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional13
HP:0002970HP:0002970Genu varum0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional11
HP:0002970HP:0002970Genu varum0LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0002970HP:0002970Genu varum0MATN3 CL E G H41486909ORPHA:93311Multiple epiphyseal dysplasia type 5HP:0040282 - Frequent32
HP:0002970HP:0002970Genu varum0MMP13 CL E G H43227159ORPHA:2501Metaphyseal chondrodysplasia, Spahr typeHP:0040281 - Very frequent52
HP:0002970HP:0002970Genu varum0MMP13 CL E G H43227159OMIM:602111Spondyloepimetaphyseal dysplasia, Missouri type.52
HP:0002970HP:0002970Genu varum0MMP13 CL E G H43227159ORPHA:93356Spondyloepimetaphyseal dysplasia, Missouri typeHP:0040282 - Frequent52
HP:0002970HP:0002970Genu varum0MMP9 CL E G H43187176OMIM:613073METAPHYSEAL ANADYSPLASIA 2; MANDP231
HP:0002970HP:0002970Genu varum0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional745
HP:0002970HP:0002970Genu varum0NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia.10
HP:0002970HP:0002970Genu varum0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0002970HP:0002970Genu varum0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0002970HP:0002970Genu varum0PHEX CL E G H52518918ORPHA:89936X-linked hypophosphatemiaHP:0040282 - Frequent217
HP:0002970HP:0002970Genu varum0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0002970HP:0002970Genu varum0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0002970HP:0002970Genu varum0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0002970HP:0002970Genu varum0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0002970HP:0002970Genu varum0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0002970HP:0002970Genu varum0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040282 - Frequent10
HP:0002970HP:0002970Genu varum0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0002970HP:0002970Genu varum0RMRP CL E G H602310031OMIM:250460Metaphyseal dysplasia without hypotrichosis.37
HP:0002970HP:0002970Genu varum0RPL13 CL E G H613710303OMIM:618728SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0002970HP:0002970Genu varum0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0002970HP:0002970Genu varum0SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional13
HP:0002970HP:0002970Genu varum0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0002970HP:0002970Genu varum0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0002970HP:0002970Genu varum0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional54
HP:0002970HP:0002970Genu varum0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia.133
HP:0002970HP:0002970Genu varum0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040282 - Frequent214
HP:0002970HP:0002970Genu varum0UFSP2 CL E G H5532525640OMIM:617974Spondyloepimetaphyseal dysplasia, DI Rocco type.2
HP:0002970HP:0002970Genu varum0VDR CL E G H742112679ORPHA:93160Hypocalcemic vitamin D-resistant ricketsHP:0040282 - Frequent104
HP:0002970HP:0002970Genu varum0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0002970HP:0002970Genu varum0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 2.14
HP:0002970HP:0100531Wind-swept deformity of the knees1COMP CL E G H13112227ORPHA:750PseudoachondroplasiaHP:0040282 - Frequent89


Genes (58) :ACAN ACTA1 ANAPC1 C12ORF57 CANT1 CCN6 CFL2 COL10A1 COL2A1 COL9A1 COL9A2 COL9A3 COMP CYP27B1 CYP2R1 CYP3A4 DDRGK1 DMP1 DYM EFL1 ENPP1 FGFR3 FN1 HPGD IDH1 IHH KAT6A KIF22 KLHL41 LMOD3 LTBP1 MATN3 MMP13 MMP9 NEB NKX3-2 ORC1 ORC6 PHEX POLR3A POLRMT PRKG2 RAB23 RBM8A RECQL4 RMRP RPL13 SHOX SLCO2A1 TCTN3 TONSL TPM2 TRIP11 TRPV4 UFSP2 VDR WDR62 XYLT1

Diseases (65) :OMIM:608361 ORPHA:171436 ORPHA:221008 ORPHA:1777 OMIM:251450 OMIM:617719 OMIM:208230 ORPHA:1159 OMIM:156500 ORPHA:174 OMIM:156550 ORPHA:85166 ORPHA:93315 OMIM:184255 ORPHA:166002 OMIM:600204 ORPHA:93308 ORPHA:750 OMIM:177170 ORPHA:289157 OMIM:619073 OMIM:602557 ORPHA:93352 ORPHA:289176 OMIM:223800 OMIM:607326 OMIM:617941 OMIM:613312 OMIM:100800 OMIM:146000 ORPHA:429 ORPHA:2796 ORPHA:99646 OMIM:607778 ORPHA:63446 OMIM:616268 ORPHA:93360 OMIM:619451 ORPHA:93311 ORPHA:2501 OMIM:602111 ORPHA:93356 OMIM:613073 OMIM:613330 OMIM:224690 OMIM:613803 ORPHA:89936 OMIM:264090 OMIM:619743 OMIM:619636 OMIM:201000 OMIM:274000 ORPHA:3320 ORPHA:221016 OMIM:250460 OMIM:618728 ORPHA:240 ORPHA:2753 OMIM:271510 OMIM:184260 ORPHA:93314 OMIM:617974 ORPHA:93160 OMIM:604317 OMIM:615777
 

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