Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the curvature of the vertebral column (HP:0010674)help
Parent Node:
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Abnormal thoracic spine morphology (HP:0100711)help
Parent Node:
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Kyphosis (HP:0002808)help
..Starting node
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Thoracic kyphosis (HP:0002942)help
Term ID: 2942
Name: Thoracic kyphosis
Synonym: Accentuated thoracic kyphosis; Exaggerated thoracic kyphosis
Definition: Over curvature of the thoracic region, leading to a round back or if sever to a hump.
Comments:
Reference: HP:0002942
Genes and Diseases:
 
       Child Nodes:
........expandLower thoracic kyphosis (HP:0004633) help
........expandThoracolumbar kyphosis (HP:0005619) help
................... HP:0003423 Thoracolumbar kyphoscoliosis

 Sister Nodes: 
..expandCervical kyphosis (HP:0002947) help
..expandKyphoscoliosis (HP:0002751) 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:0002942HP:0002942Thoracic kyphosis0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0002942HP:0002942Thoracic kyphosis0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome.87
HP:0002942HP:0002942Thoracic kyphosis0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0002942HP:0002942Thoracic kyphosis0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0002942HP:0002942Thoracic kyphosis0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0002942HP:0002942Thoracic kyphosis0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0002942HP:0002942Thoracic kyphosis0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0002942HP:0002942Thoracic kyphosis0CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhood
HP:0002942HP:0002942Thoracic kyphosis0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0002942HP:0002942Thoracic kyphosis0COL2A1 CL E G H12802200OMIM:609162Czech dysplasia, Metatarsal type.284
HP:0002942HP:0002942Thoracic kyphosis0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0002942HP:0002942Thoracic kyphosis0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0002942HP:0002942Thoracic kyphosis0DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0002942HP:0002942Thoracic kyphosis0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0002942HP:0002942Thoracic kyphosis0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0002942HP:0002942Thoracic kyphosis0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0002942HP:0002942Thoracic kyphosis0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities3
HP:0002942HP:0002942Thoracic kyphosis0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0002942HP:0002942Thoracic kyphosis0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002942HP:0002942Thoracic kyphosis0FGFR3 CL E G H22613690ORPHA:15Achondroplasia145
HP:0002942HP:0002942Thoracic kyphosis0FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type III233
HP:0002942HP:0002942Thoracic kyphosis0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002942HP:0002942Thoracic kyphosis0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0002942HP:0002942Thoracic kyphosis0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0002942HP:0002942Thoracic kyphosis0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0002942HP:0002942Thoracic kyphosis0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0002942HP:0002942Thoracic kyphosis0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0002942HP:0002942Thoracic kyphosis0KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocations14
HP:0002942HP:0002942Thoracic kyphosis0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0002942HP:0002942Thoracic kyphosis0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0002942HP:0002942Thoracic kyphosis0LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome51
HP:0002942HP:0002942Thoracic kyphosis0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis136
HP:0002942HP:0002942Thoracic kyphosis0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0002942HP:0002942Thoracic kyphosis0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0002942HP:0002942Thoracic kyphosis0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0002942HP:0002942Thoracic kyphosis0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0002942HP:0002942Thoracic kyphosis0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002942HP:0002942Thoracic kyphosis0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0002942HP:0002942Thoracic kyphosis0NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type53
HP:0002942HP:0002942Thoracic kyphosis0PHF8 CL E G H2313320672OMIM:300263Siderius X-linked mental retardation syndrome.23
HP:0002942HP:0002942Thoracic kyphosis0PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndromeHP:0040283 - Occasional
HP:0002942HP:0002942Thoracic kyphosis0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome.
HP:0002942HP:0002942Thoracic kyphosis0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 26
HP:0002942HP:0002942Thoracic kyphosis0PRKG2 CL E G H55939416OMIM:619638SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0002942HP:0002942Thoracic kyphosis0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0002942HP:0002942Thoracic kyphosis0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0002942HP:0002942Thoracic kyphosis0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0002942HP:0002942Thoracic kyphosis0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0002942HP:0002942Thoracic kyphosis0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0002942HP:0002942Thoracic kyphosis0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0002942HP:0002942Thoracic kyphosis0SRD5A3 CL E G H7964425812OMIM:612713Kahrizi syndrome.80
HP:0002942HP:0002942Thoracic kyphosis0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0002942HP:0002942Thoracic kyphosis0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0002942HP:0002942Thoracic kyphosis0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0002942HP:0002942Thoracic kyphosis0TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040283 - Occasional46
HP:0002942HP:0002942Thoracic kyphosis0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040283 - Occasional214
HP:0002942HP:0002942Thoracic kyphosis0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040283 - Occasional1
HP:0002942HP:0002942Thoracic kyphosis0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0002942HP:0002942Thoracic kyphosis0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndromeHP:0040281 - Very frequent5
HP:0002942HP:0005619Thoracolumbar kyphosis1AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0002942HP:0005619Thoracolumbar kyphosis1CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhood
HP:0002942HP:0005619Thoracolumbar kyphosis1CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0002942HP:0005619Thoracolumbar kyphosis1COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0002942HP:0005619Thoracolumbar kyphosis1EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities3
HP:0002942HP:0005619Thoracolumbar kyphosis1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0002942HP:0005619Thoracolumbar kyphosis1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002942HP:0005619Thoracolumbar kyphosis1FGFR3 CL E G H22613690ORPHA:15AchondroplasiaHP:0040281 - Very frequent145
HP:0002942HP:0005619Thoracolumbar kyphosis1FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type IIIHP:0040283 - Occasional233
HP:0002942HP:0005619Thoracolumbar kyphosis1GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0002942HP:0005619Thoracolumbar kyphosis1GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0002942HP:0005619Thoracolumbar kyphosis1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0002942HP:0005619Thoracolumbar kyphosis1GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII.54
HP:0002942HP:0005619Thoracolumbar kyphosis1KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocationsHP:0040283 - Occasional14
HP:0002942HP:0005619Thoracolumbar kyphosis1LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0002942HP:0005619Thoracolumbar kyphosis1LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome51
HP:0002942HP:0005619Thoracolumbar kyphosis1MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0002942HP:0005619Thoracolumbar kyphosis1MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0002942HP:0005619Thoracolumbar kyphosis1MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0002942HP:0005619Thoracolumbar kyphosis1NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002942HP:0004633Lower thoracic kyphosis1NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type.53
HP:0002942HP:0005619Thoracolumbar kyphosis1NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type.53
HP:0002942HP:0005619Thoracolumbar kyphosis1POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 26
HP:0002942HP:0005619Thoracolumbar kyphosis1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0002942HP:0003423Thoracolumbar kyphoscoliosis2CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhoodHP:0040282 - Frequent
HP:0002942HP:0003423Thoracolumbar kyphoscoliosis2CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040282 - Frequent2
HP:0002942HP:0003423Thoracolumbar kyphoscoliosis2GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0002942HP:0003423Thoracolumbar kyphoscoliosis2LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndromeHP:0040281 - Very frequent51
HP:0002942HP:0003423Thoracolumbar kyphoscoliosis2MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0002942HP:0003423Thoracolumbar kyphoscoliosis2NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002942HP:0003423Thoracolumbar kyphoscoliosis2POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2.6
HP:0002942HP:0003423Thoracolumbar kyphoscoliosis2SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166


Genes (55) :AIFM1 ALDH3A2 AMER1 ANKRD11 AP1G1 CARS1 CCN6 CDH11 COL2A1 CYP27A1 DMD DYM ERCC2 ERCC3 EXTL3 FBXO28 FGFR3 FLNB GBA1 GLB1 GNPTAB GTF2E2 GTF2H5 GUSB KIF22 KY LBR LHX3 MAN2B1 MED12L MGAT2 MPLKIP NARS1 NEPRO NFIX NPR2 PHF8 PIK3C2A POP1 PRKG2 PUF60 RMRP RNF113A RYR1 SLC26A2 SMARCAL1 SRD5A3 TARS1 TMEM231 TONSL TRAPPC2 TRPV4 VPS33A WDR81 XYLT2

Diseases (52) :OMIM:300232 OMIM:270200 OMIM:300373 OMIM:148050 ORPHA:2332 OMIM:619467 ORPHA:33364 ORPHA:1159 ORPHA:1299 OMIM:609162 OMIM:151210 ORPHA:909 ORPHA:206546 OMIM:223800 OMIM:617425 ORPHA:508533 OMIM:619777 ORPHA:15 ORPHA:56305 ORPHA:2072 OMIM:230600 OMIM:252500 OMIM:253220 ORPHA:93360 OMIM:617114 OMIM:618019 ORPHA:231720 OMIM:248500 OMIM:618872 OMIM:212066 OMIM:619092 OMIM:618853 OMIM:602535 OMIM:602875 OMIM:300263 ORPHA:557003 OMIM:618440 OMIM:617396 OMIM:619638 ORPHA:508498 OMIM:607095 OMIM:619542 ORPHA:56304 OMIM:242900 OMIM:612713 ORPHA:2752 OMIM:271510 ORPHA:93284 ORPHA:93314 ORPHA:505248 OMIM:610185 ORPHA:85194
 

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