Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal thorax morphology (HP:0000765)help
Parent Node:
expand
Abnormal rib cage morphology (HP:0001547)help
..Starting node
..expand
Enlarged thorax (HP:0100625)help
Term ID: 100625
Name: Enlarged thorax
Synonym: Wide rib cage; Wide thorax
Definition:
Comments:
Reference: HP:0100625
Genes and Diseases:
 
       Child Nodes:
........expandShield chest (HP:0000914) help
........expandBarrel-shaped chest (HP:0001552) help
........expandIncreased anterioposterior diameter of thorax (HP:0005253) help
........expandLong thorax (HP:0100818) help

 Sister Nodes: 
..expandAbnormal facility in opposing the shoulders (HP:0005259) help
..expandAbnormal rib morphology (HP:0000772) help
..expandAsymmetry of the thorax (HP:0001555) help
..expandBell-shaped thorax (HP:0001591) help
..expandDeformed rib cage (HP:0000886) help
..expandRestricted chest movement (HP:0006596) help
..expandThoracic dysplasia (HP:0006644) 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:0100625HP:0100625Enlarged thorax0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0100625HP:0100625Enlarged thorax0ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan type34
HP:0100625HP:0100625Enlarged thorax0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0100625HP:0100625Enlarged thorax0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0100625HP:0100625Enlarged thorax0BMPER CL E G H16866724154ORPHA:66637DiaphanospondylodysostosisHP:0040281 - Very frequent78
HP:0100625HP:0100625Enlarged thorax0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0100625HP:0100625Enlarged thorax0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0100625HP:0100625Enlarged thorax0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0100625HP:0100625Enlarged thorax0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0100625HP:0100625Enlarged thorax0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040281 - Very frequent317
HP:0100625HP:0100625Enlarged thorax0CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040282 - Frequent5
HP:0100625HP:0100625Enlarged thorax0CHST3 CL E G H94691971ORPHA:263463CHST3-related skeletal dysplasia165
HP:0100625HP:0100625Enlarged thorax0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0100625HP:0100625Enlarged thorax0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0100625HP:0100625Enlarged thorax0COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II284
HP:0100625HP:0100625Enlarged thorax0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenita284
HP:0100625HP:0100625Enlarged thorax0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0100625HP:0100625Enlarged thorax0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0100625HP:0100625Enlarged thorax0CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040282 - Frequent127
HP:0100625HP:0100625Enlarged thorax0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0100625HP:0100625Enlarged thorax0DYM CL E G H5480821317OMIM:607326Smith-Mccort dysplasia 165
HP:0100625HP:0100625Enlarged thorax0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus65
HP:0100625HP:0100625Enlarged thorax0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040281 - Very frequent1361
HP:0100625HP:0100625Enlarged thorax0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0100625HP:0100625Enlarged thorax0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040282 - Frequent87
HP:0100625HP:0100625Enlarged thorax0GPKOW CL E G H2723830677ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndromeHP:0040282 - Frequent
HP:0100625HP:0100625Enlarged thorax0GUSB CL E G H29904696ORPHA:584Mucopolysaccharidosis type 7HP:0040283 - Occasional54
HP:0100625HP:0100625Enlarged thorax0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0100625HP:0100625Enlarged thorax0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0100625HP:0100625Enlarged thorax0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0100625HP:0100625Enlarged thorax0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0100625HP:0100625Enlarged thorax0KDELR2 CL E G H110146305OMIM:619131OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0100625HP:0100625Enlarged thorax0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040281 - Very frequent196
HP:0100625HP:0100625Enlarged thorax0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0100625HP:0100625Enlarged thorax0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0100625HP:0100625Enlarged thorax0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathy645
HP:0100625HP:0100625Enlarged thorax0LRP5 CL E G H40416697OMIM:259770Osteoporosis-Pseudoglioma syndrome125
HP:0100625HP:0100625Enlarged thorax0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040281 - Very frequent43
HP:0100625HP:0100625Enlarged thorax0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0100625HP:0100625Enlarged thorax0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0100625HP:0100625Enlarged thorax0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0100625HP:0100625Enlarged thorax0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0100625HP:0100625Enlarged thorax0MYH3 CL E G H46217573OMIM:178110Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A166
HP:0100625HP:0100625Enlarged thorax0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0100625HP:0100625Enlarged thorax0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040281 - Very frequent102
HP:0100625HP:0100625Enlarged thorax0OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040282 - Frequent143
HP:0100625HP:0100625Enlarged thorax0P3H1 CL E G H6417519316OMIM:610915Osteogenesis imperfecta, type VIII43
HP:0100625HP:0100625Enlarged thorax0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0100625HP:0100625Enlarged thorax0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 26
HP:0100625HP:0100625Enlarged thorax0PRKACA CL E G H55669380OMIM:619142CARDIOACROFACIAL DYSPLASIA 1; CAFD12
HP:0100625HP:0100625Enlarged thorax0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0100625HP:0100625Enlarged thorax0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040281 - Very frequent291
HP:0100625HP:0100625Enlarged thorax0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0100625HP:0100625Enlarged thorax0RAB33B CL E G H8345216075OMIM:615222Smith-Mccort dysplasia 253
HP:0100625HP:0100625Enlarged thorax0RAB5IF CL E G H5596915870OMIM:616994
HP:0100625HP:0100625Enlarged thorax0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040281 - Very frequent212
HP:0100625HP:0100625Enlarged thorax0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040281 - Very frequent3
HP:0100625HP:0100625Enlarged thorax0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040281 - Very frequent39
HP:0100625HP:0100625Enlarged thorax0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0100625HP:0100625Enlarged thorax0RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0100625HP:0100625Enlarged thorax0RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040281 - Very frequent1
HP:0100625HP:0100625Enlarged thorax0SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040281 - Very frequent315
HP:0100625HP:0100625Enlarged thorax0SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040281 - Very frequent30
HP:0100625HP:0100625Enlarged thorax0SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0100625HP:0100625Enlarged thorax0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0100625HP:0100625Enlarged thorax0TNFRSF11B CL E G H498211909OMIM:239000Paget disease of bone 5, juvenile-onset44
HP:0100625HP:0100625Enlarged thorax0TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tarda46
HP:0100625HP:0100625Enlarged thorax0TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked46
HP:0100625HP:0100625Enlarged thorax0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0100625HP:0100625Enlarged thorax0TRPV4 CL E G H5934118083OMIM:113500Brachyolmia type 3214
HP:0100625HP:0100625Enlarged thorax0TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasia214
HP:0100625HP:0100625Enlarged thorax0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski type214
HP:0100625HP:0100625Enlarged thorax0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders1
HP:0100625HP:0100625Enlarged thorax0WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenism4
HP:0100625HP:0100625Enlarged thorax0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0100625HP:0100625Enlarged thorax0XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome5
HP:0100625HP:0100625Enlarged thorax0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathy83
HP:0100625HP:0100625Enlarged thorax0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83
HP:0100625HP:0001552Barrel-shaped chest1ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0100625HP:0001552Barrel-shaped chest1ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan typeHP:0040281 - Very frequent34
HP:0100625HP:0001552Barrel-shaped chest1ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0100625HP:0100818Long thorax1BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional101
HP:0100625HP:0000914Shield chest1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0100625HP:0000914Shield chest1BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0100625HP:0000914Shield chest1BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0100625HP:0000914Shield chest1BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0100625HP:0001552Barrel-shaped chest1CHST3 CL E G H94691971ORPHA:263463CHST3-related skeletal dysplasiaHP:0040281 - Very frequent165
HP:0100625HP:0001552Barrel-shaped chest1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0100625HP:0000914Shield chest1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0100625HP:0001552Barrel-shaped chest1CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA.
HP:0100625HP:0001552Barrel-shaped chest1COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II.284
HP:0100625HP:0001552Barrel-shaped chest1COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040283 - Occasional284
HP:0100625HP:0001552Barrel-shaped chest1COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita.284
HP:0100625HP:0001552Barrel-shaped chest1COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0100625HP:0000914Shield chest1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0100625HP:0001552Barrel-shaped chest1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0100625HP:0001552Barrel-shaped chest1DYM CL E G H5480821317OMIM:607326Smith-Mccort dysplasia 1.65
HP:0100625HP:0001552Barrel-shaped chest1EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0100625HP:0000914Shield chest1FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0100625HP:0001552Barrel-shaped chest1FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0100625HP:0001552Barrel-shaped chest1HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0100625HP:0000914Shield chest1IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0100625HP:0100818Long thorax1INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly.
HP:0100625HP:0100818Long thorax1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0100625HP:0001552Barrel-shaped chest1KDELR2 CL E G H110146305OMIM:619131OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0100625HP:0000914Shield chest1KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0100625HP:0001552Barrel-shaped chest1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0100625HP:0005253Increased anterioposterior diameter of thorax1LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent645
HP:0100625HP:0001552Barrel-shaped chest1LRP5 CL E G H40416697OMIM:259770Osteoporosis-Pseudoglioma syndrome.125
HP:0100625HP:0000914Shield chest1LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0100625HP:0000914Shield chest1MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0100625HP:0001552Barrel-shaped chest1MYH3 CL E G H46217573OMIM:178110Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1AHP:0040284 - Very rare166
HP:0100625HP:0100818Long thorax1NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional23
HP:0100625HP:0001552Barrel-shaped chest1P3H1 CL E G H6417519316OMIM:610915Osteogenesis imperfecta, type VIII.43
HP:0100625HP:0100818Long thorax1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0100625HP:0000914Shield chest1POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2.6
HP:0100625HP:0100818Long thorax1PRKACA CL E G H55669380OMIM:619142CARDIOACROFACIAL DYSPLASIA 1; CAFD12
HP:0100625HP:0100818Long thorax1PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0100625HP:0000914Shield chest1PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0100625HP:0001552Barrel-shaped chest1RAB33B CL E G H8345216075OMIM:615222Smith-Mccort dysplasia 2.53
HP:0100625HP:0000914Shield chest1RAB5IF CL E G H5596915870OMIM:616994
HP:0100625HP:0001552Barrel-shaped chest1RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0100625HP:0000914Shield chest1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040282 - Frequent138
HP:0100625HP:0001552Barrel-shaped chest1TNFRSF11B CL E G H498211909OMIM:239000Paget disease of bone 5, juvenile-onset.44
HP:0100625HP:0001552Barrel-shaped chest1TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040281 - Very frequent46
HP:0100625HP:0001552Barrel-shaped chest1TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked.46
HP:0100625HP:0000914Shield chest1TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked.46
HP:0100625HP:0001552Barrel-shaped chest1TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA.133
HP:0100625HP:0001552Barrel-shaped chest1TRPV4 CL E G H5934118083OMIM:113500Brachyolmia type 3.214
HP:0100625HP:0100818Long thorax1TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasiaHP:0040281 - Very frequent214
HP:0100625HP:0000914Shield chest1TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040283 - Occasional214
HP:0100625HP:0001552Barrel-shaped chest1VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040283 - Occasional1
HP:0100625HP:0000914Shield chest1WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenismHP:0040283 - Occasional4
HP:0100625HP:0001552Barrel-shaped chest1WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0100625HP:0000914Shield chest1XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome.5
HP:0100625HP:0005253Increased anterioposterior diameter of thorax1ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent83
HP:0100625HP:0005253Increased anterioposterior diameter of thorax1ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83


Genes (62) :ACAN ACP5 BCOR BMPER BRAF CBL CCDC8 CHST3 CILK1 COL2A1 CUL7 DYM EIF2AK3 FBN1 FUCA1 GATA4 GPKOW GUSB HRAS IDH1 INTU KAT6A KDELR2 KRAS LBR LMNA LRP5 LZTR1 MAP2K1 MAPK1 MRAS MYH3 NAA10 NRAS OBSL1 P3H1 PCGF2 POP1 PRKACA PRKACB PTPN11 RAB33B RAB5IF RAF1 RASA2 RIT1 RMRP RRAS RRAS2 SOS1 SOS2 SPRED2 SRCAP TNFRSF11B TRAPPC2 TRIP11 TRPV4 VPS33A WNT4 WNT7A XYLT2 ZMPSTE24

Diseases (59) :OMIM:612813 ORPHA:171866 OMIM:607944 ORPHA:568 ORPHA:66637 OMIM:115150 OMIM:613707 OMIM:163950 OMIM:613706 ORPHA:648 ORPHA:2616 ORPHA:263463 OMIM:143095 OMIM:612651 OMIM:200610 ORPHA:94068 OMIM:183900 OMIM:271700 OMIM:223800 OMIM:607326 OMIM:226980 ORPHA:284979 OMIM:230000 ORPHA:251071 ORPHA:2570 ORPHA:584 OMIM:218040 ORPHA:99646 OMIM:617925 OMIM:616268 OMIM:619131 OMIM:609942 OMIM:215140 ORPHA:1662 OMIM:259770 OMIM:605275 OMIM:619087 OMIM:178110 OMIM:610915 OMIM:618371 OMIM:617396 OMIM:619142 OMIM:619143 OMIM:615222 OMIM:616994 OMIM:607095 ORPHA:2044 OMIM:239000 ORPHA:93284 OMIM:313400 OMIM:200600 OMIM:113500 ORPHA:2635 ORPHA:93314 ORPHA:505248 ORPHA:247768 OMIM:276820 OMIM:605822 OMIM:275210
 

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