Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the calf (HP:0002981)help
Grandparent Node:
expand
Bowing of the long bones (HP:0006487)help
Parent Node:
expand
Abnormality of tibia morphology (HP:0002992)help
Parent Node:
expand
Bowing of the legs (HP:0002979)help
..Starting node
..expand
Tibial bowing (HP:0002982)help
Term ID: 2982
Name: Tibial bowing
Synonym: Bowed shankbone; Bowed shinbone; Bowed tibia; Bowing of the tibia
Definition: A bending or abnormal curvature of the tibia.
Comments:
Reference: HP:0002982
Genes and Diseases:
 
       Child Nodes:
........expandAnterior tibial bowing (HP:0006390) help
........expandDistal tibial bowing (HP:0006414) help

 Sister Nodes: 
..expandFemoral bowing (HP:0002980) help
..expandFibular bowing (HP:0010502) help
..expandGenu valgum (HP:0002857) help
..expandGenu varum (HP:0002970) 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:0002982HP:0002982Tibial bowing0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0002982HP:0002982Tibial bowing0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0002982HP:0002982Tibial bowing0CLCN5 CL E G H11842023OMIM:300009Dent disease 1.112
HP:0002982HP:0002982Tibial bowing0CLCN5 CL E G H11842023OMIM:300554Hypophosphatemic rickets, X-linked recessive.112
HP:0002982HP:0002982Tibial bowing0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040283 - Occasional6
HP:0002982HP:0002982Tibial bowing0COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type79
HP:0002982HP:0002982Tibial bowing0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040283 - Occasional222
HP:0002982HP:0002982Tibial bowing0COL1A1 CL E G H12772197OMIM:114000Caffey disease.373
HP:0002982HP:0002982Tibial bowing0COL1A1 CL E G H12772197OMIM:166210Osteogenesis imperfecta, type IIA.373
HP:0002982HP:0002982Tibial bowing0COL1A1 CL E G H12772197OMIM:259420Osteogenesis imperfecta, type III.373
HP:0002982HP:0002982Tibial bowing0COL1A2 CL E G H12782198OMIM:166210Osteogenesis imperfecta, type IIA.243
HP:0002982HP:0002982Tibial bowing0COL1A2 CL E G H12782198OMIM:259420Osteogenesis imperfecta, type III.243
HP:0002982HP:0002982Tibial bowing0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia284
HP:0002982HP:0002982Tibial bowing0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional284
HP:0002982HP:0002982Tibial bowing0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0002982HP:0002982Tibial bowing0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent41
HP:0002982HP:0002982Tibial bowing0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0002982HP:0002982Tibial bowing0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent5
HP:0002982HP:0002982Tibial bowing0CYP2R1 CL E G H12022720580OMIM:600081Vitamin D hydroxylation-deficient rickets, type 1B.5
HP:0002982HP:0002982Tibial bowing0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0002982HP:0002982Tibial bowing0DMP1 CL E G H17582932ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040282 - Frequent48
HP:0002982HP:0002982Tibial bowing0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0002982HP:0002982Tibial bowing0ENPP1 CL E G H51673356ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040282 - Frequent151
HP:0002982HP:0002982Tibial bowing0FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndromeHP:0040282 - Frequent145
HP:0002982HP:0002982Tibial bowing0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040283 - Occasional2
HP:0002982HP:0002982Tibial bowing0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0002982HP:0002982Tibial bowing0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0002982HP:0002982Tibial bowing0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0002982HP:0002982Tibial bowing0FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III.233
HP:0002982HP:0002982Tibial bowing0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional9
HP:0002982HP:0002982Tibial bowing0GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum.52
HP:0002982HP:0002982Tibial bowing0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0002982HP:0002982Tibial bowing0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0002982HP:0002982Tibial bowing0MMP13 CL E G H43227159ORPHA:93356Spondyloepimetaphyseal dysplasia, Missouri typeHP:0040282 - Frequent52
HP:0002982HP:0002982Tibial bowing0MMP13 CL E G H43227159OMIM:602111Spondyloepimetaphyseal dysplasia, Missouri type.52
HP:0002982HP:0002982Tibial bowing0P3H1 CL E G H6417519316OMIM:610915Osteogenesis imperfecta, type VIII.43
HP:0002982HP:0002982Tibial bowing0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0002982HP:0002982Tibial bowing0PCYT1A CL E G H51308754OMIM:608940Spondylometaphyseal dysplasia with cone-rod dystrophy.11
HP:0002982HP:0002982Tibial bowing0PHEX CL E G H52518918OMIM:307800Hypophosphatemic rickets, X-linked dominant.217
HP:0002982HP:0002982Tibial bowing0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0002982HP:0002982Tibial bowing0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0002982HP:0002982Tibial bowing0SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0002982HP:0002982Tibial bowing0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0002982HP:0002982Tibial bowing0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0002982HP:0002982Tibial bowing0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0002982HP:0002982Tibial bowing0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0002982HP:0002982Tibial bowing0SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0002982HP:0002982Tibial bowing0SHOX CL E G H647310853ORPHA:314795SHOX-related short statureHP:0040281 - Very frequent66
HP:0002982HP:0002982Tibial bowing0SLC34A3 CL E G H14268020305OMIM:241530Hypophosphatemic rickets with hypercalciuria, hereditary.52
HP:0002982HP:0002982Tibial bowing0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0002982HP:0002982Tibial bowing0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0002982HP:0002982Tibial bowing0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0002982HP:0002982Tibial bowing0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040281 - Very frequent109
HP:0002982HP:0002982Tibial bowing0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104
HP:0002982HP:0006414Distal tibial bowing1COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type.79
HP:0002982HP:0006390Anterior tibial bowing1SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0002982HP:0006390Anterior tibial bowing1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109


Genes (38) :CHST3 CILK1 CLCN5 CLTCL1 COL10A1 COL11A2 COL1A1 COL1A2 COL2A1 CPLANE1 CYP27B1 CYP2R1 DLK1 DMP1 DYM ENPP1 FGFR3 FIBP FLNA FLNB FN1 GORAB LIFR MEG3 MMP13 P3H1 PCNT PCYT1A PHEX RMRP RTL1 SATB2 SETBP1 SHOX SLC34A3 SMOC1 SOX9 VDR

Diseases (47) :OMIM:143095 OMIM:612651 OMIM:300009 OMIM:300554 ORPHA:453510 OMIM:156500 ORPHA:1427 OMIM:114000 OMIM:166210 OMIM:259420 OMIM:156550 ORPHA:93315 OMIM:277170 ORPHA:289157 OMIM:264700 OMIM:600081 ORPHA:96334 ORPHA:289176 OMIM:223800 ORPHA:85165 ORPHA:500095 OMIM:309350 OMIM:304120 OMIM:108720 OMIM:108721 OMIM:231070 OMIM:601559 ORPHA:93356 OMIM:602111 OMIM:610915 OMIM:210720 OMIM:608940 OMIM:307800 ORPHA:175 OMIM:612313 ORPHA:251028 OMIM:269150 ORPHA:798 ORPHA:240 OMIM:127300 ORPHA:314795 OMIM:241530 OMIM:206920 ORPHA:1106 OMIM:114290 ORPHA:140 OMIM:277440
 

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