Human Phenotype Ontology 
Grandparent Node:
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Abnormal forearm bone morphology (HP:0040072)help
Grandparent Node:
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obsolete Abnormal morphology of bones of the upper limbs (HP:0040065)help
Parent Node:
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Bowing of the arm (HP:0006488)help
Parent Node:
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Obsolete Abnormal forearm bone morphology (HP:0040073)help
..Starting node
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Bowed forearm bones (HP:0003956)help
Term ID: 3956
Name: Bowed forearm bones
Synonym: Bowed forearm bones
Definition: A bending or abnormal curvature affecting either the radius, the ulna, or both.
Comments:
Reference: HP:0003956
Genes and Diseases:
 
       Child Nodes:
........expandRadial bowing (HP:0002986) help
........expandUlnar bowing (HP:0003031) help
........expandProgressive forearm bowing (HP:0005891) help

 Sister Nodes: 
..expandAbnormal morphology of ulna (HP:0040071) help
..expandAngulated forearm bones (HP:0003954) help
..expandBroad forearm bones (HP:0003971) help
..expandDeformed forearm bones (HP:0003959) help
..expandDistal ulnar epiphyseal stippling (HP:0006370) help
..expandFractured forearm bones (HP:0003961) help
..expandobsolete Abnormal morphology of the radius (HP:0045009) help
..expandSlender forearm bones (HP:0003969) 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:0003956HP:0003956Bowed forearm bones0B2M CL E G H567914OMIM:241600Immunodeficiency 438
HP:0003956HP:0003956Bowed forearm bones0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0003956HP:0003956Bowed forearm bones0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0003956HP:0003956Bowed forearm bones0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0003956HP:0003956Bowed forearm bones0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0003956HP:0003956Bowed forearm bones0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0003956HP:0003956Bowed forearm bones0FGF23 CL E G H80743680OMIM:617993TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC251
HP:0003956HP:0003956Bowed forearm bones0FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis175
HP:0003956HP:0003956Bowed forearm bones0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0003956HP:0003956Bowed forearm bones0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II493
HP:0003956HP:0003956Bowed forearm bones0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0003956HP:0003956Bowed forearm bones0FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III233
HP:0003956HP:0003956Bowed forearm bones0GDF5 CL E G H82004220OMIM:201250Acromesomelic dysplasia, Hunter-Thompson type52
HP:0003956HP:0003956Bowed forearm bones0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0003956HP:0003956Bowed forearm bones0HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia3
HP:0003956HP:0003956Bowed forearm bones0IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0003956HP:0003956Bowed forearm bones0LAMA5 CL E G H39116485OMIM:6200765
HP:0003956HP:0003956Bowed forearm bones0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0003956HP:0003956Bowed forearm bones0MMP13 CL E G H43227159OMIM:602111Spondyloepimetaphyseal dysplasia, Missouri type52
HP:0003956HP:0003956Bowed forearm bones0NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type53
HP:0003956HP:0003956Bowed forearm bones0P3H1 CL E G H6417519316OMIM:610915Osteogenesis imperfecta, type VIII43
HP:0003956HP:0003956Bowed forearm bones0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0003956HP:0003956Bowed forearm bones0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis76
HP:0003956HP:0003956Bowed forearm bones0POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis76
HP:0003956HP:0003956Bowed forearm bones0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0003956HP:0003956Bowed forearm bones0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0003956HP:0003956Bowed forearm bones0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome445
HP:0003956HP:0003956Bowed forearm bones0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0003956HP:0003956Bowed forearm bones0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0003956HP:0003956Bowed forearm bones0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0003956HP:0003956Bowed forearm bones0SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia66
HP:0003956HP:0003956Bowed forearm bones0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosis66
HP:0003956HP:0003956Bowed forearm bones0SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0003956HP:0003956Bowed forearm bones0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4166
HP:0003956HP:0003956Bowed forearm bones0TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome166
HP:0003956HP:0003956Bowed forearm bones0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski type214
HP:0003956HP:0003956Bowed forearm bones0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0003956HP:0003956Bowed forearm bones0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0003956HP:0003956Bowed forearm bones0WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel type13
HP:0003956HP:0003956Bowed forearm bones0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0003956HP:0005891Progressive forearm bowing1 CL E G H
HP:0003956HP:0002986Radial bowing1B2M CL E G H567914OMIM:241600Immunodeficiency 43.8
HP:0003956HP:0002986Radial bowing1B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0003956HP:0003031Ulnar bowing1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0003956HP:0003031Ulnar bowing1COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0003956HP:0002986Radial bowing1COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0003956HP:0002986Radial bowing1COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0003956HP:0002986Radial bowing1FGF23 CL E G H80743680OMIM:617993TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC251
HP:0003956HP:0003031Ulnar bowing1FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.175
HP:0003956HP:0002986Radial bowing1FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0003956HP:0003031Ulnar bowing1FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0003956HP:0003031Ulnar bowing1FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0003956HP:0002986Radial bowing1FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0003956HP:0002986Radial bowing1FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0003956HP:0002986Radial bowing1FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III.233
HP:0003956HP:0002986Radial bowing1GDF5 CL E G H82004220OMIM:201250Acromesomelic dysplasia, Hunter-Thompson type.52
HP:0003956HP:0002986Radial bowing1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0003956HP:0003031Ulnar bowing1HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia.3
HP:0003956HP:0002986Radial bowing1HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia.3
HP:0003956HP:0003031Ulnar bowing1IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0003956HP:0002986Radial bowing1IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0003956HP:0003031Ulnar bowing1LAMA5 CL E G H39116485OMIM:6200765
HP:0003956HP:0002986Radial bowing1LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0003956HP:0002986Radial bowing1MMP13 CL E G H43227159OMIM:602111Spondyloepimetaphyseal dysplasia, Missouri type.52
HP:0003956HP:0003031Ulnar bowing1MMP13 CL E G H43227159OMIM:602111Spondyloepimetaphyseal dysplasia, Missouri type.52
HP:0003956HP:0002986Radial bowing1NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type.53
HP:0003956HP:0002986Radial bowing1P3H1 CL E G H6417519316OMIM:610915Osteogenesis imperfecta, type VIII.43
HP:0003956HP:0003031Ulnar bowing1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0003956HP:0002986Radial bowing1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0003956HP:0003031Ulnar bowing1POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0003956HP:0003031Ulnar bowing1POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.76
HP:0003956HP:0002986Radial bowing1PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0003956HP:0003031Ulnar bowing1PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0003956HP:0003031Ulnar bowing1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0003956HP:0003031Ulnar bowing1RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0003956HP:0003031Ulnar bowing1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0003956HP:0002986Radial bowing1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0003956HP:0003031Ulnar bowing1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0003956HP:0002986Radial bowing1SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia.66
HP:0003956HP:0003031Ulnar bowing1SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0003956HP:0002986Radial bowing1SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0003956HP:0002986Radial bowing1SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0003956HP:0002986Radial bowing1SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040283 - Occasional166
HP:0003956HP:0003031Ulnar bowing1SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040283 - Occasional166
HP:0003956HP:0002986Radial bowing1TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome.166
HP:0003956HP:0002986Radial bowing1TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040283 - Occasional214
HP:0003956HP:0003031Ulnar bowing1VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0003956HP:0002986Radial bowing1WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0003956HP:0002986Radial bowing1WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel typeHP:0040282 - Frequent13
HP:0003956HP:0002986Radial bowing1WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13


Genes (34) :B2M B3GALT6 CHST3 CILK1 COL11A1 COL2A1 FGF23 FGFR2 FGFR3 FLNA FLNB GDF5 GLI3 HOXA11 IFT43 LAMA5 LBR MMP13 NPR2 P3H1 PCNT POR PRKG2 RBM8A RECQL4 RIPK4 ROR2 SCARF2 SHOX SLC26A2 TMEM67 TRPV4 VPS35L WNT7A

Diseases (39) :OMIM:241600 OMIM:271640 OMIM:143095 OMIM:612651 OMIM:154780 OMIM:151210 OMIM:617993 OMIM:207410 OMIM:100800 OMIM:304120 OMIM:108720 OMIM:108721 OMIM:201250 ORPHA:672 OMIM:605432 OMIM:617866 OMIM:620076 OMIM:618019 OMIM:602111 OMIM:602875 OMIM:610915 OMIM:210720 OMIM:201750 OMIM:619636 OMIM:274000 OMIM:218600 OMIM:263650 OMIM:268310 OMIM:600920 OMIM:249700 ORPHA:240 OMIM:127300 ORPHA:93307 OMIM:602152 ORPHA:93314 OMIM:619135 OMIM:228930 ORPHA:2879 OMIM:276820
 

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