Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the thorax (HP:0000765)help
Parent Node:
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Thoracic hypoplasia (HP:0005257)help
..Starting node
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Narrow chest (HP:0000774)help
Term ID: 774
Name: Narrow chest
Synonym: Low chest circumference; Narrow chest; Narrow shoulders; Narrow thorax; Reduced anterior-posterior chest diameter
Definition: Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Comments:
Reference: HP:0000774
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital microthorax (HP:0006647) help
..expandUnilateral chest hypoplasia (HP:0005254) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000774HP:0000774Narrow chest0ABCC9 CL E G H100601517ORPHA14965860601439
HP:0000774HP:0000774Narrow chest0ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM14965860601439
HP:0000774HP:0000774Narrow chest0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA1438219605011
HP:0000774HP:0000774Narrow chest0AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM118942329103320
HP:0000774HP:0000774Narrow chest0ASXL1 CL E G H17102397297ORPHA14119918318612990
HP:0000774HP:0000774Narrow chest0ATP7A CL E G H538565ORPHA1357607869300011
HP:0000774HP:0000774Narrow chest0ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM1357607869300011
HP:0000774HP:0000774Narrow chest0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0000774HP:0000774Narrow chest0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM19138930604327
HP:0000774HP:0000774Narrow chest0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0000774HP:0000774Narrow chest0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12816619721613165
HP:0000774HP:0000774Narrow chest0CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA14109551514601199
HP:0000774HP:0000774Narrow chest0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM14109551514601199
HP:0000774HP:0000774Narrow chest0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11330529426612753
HP:0000774HP:0000774Narrow chest0CEP120 CL E G H153241474ORPHA198726690613446
HP:0000774HP:0000774Narrow chest0CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM198726690613446
HP:0000774HP:0000774Narrow chest0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0000774HP:0000774Narrow chest0CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0000774HP:0000774Narrow chest0COL11A1 CL E G H1301440354ORPHA11065602186120280
HP:0000774HP:0000774Narrow chest0COL11A1 CL E G H13012021ORPHA11065602186120280
HP:0000774HP:0000774Narrow chest0COL11A2 CL E G H13022021ORPHA1594712187120290
HP:0000774HP:0000774Narrow chest0COL2A1 CL E G H128085166ORPHA15707312200120140
HP:0000774HP:0000774Narrow chest0COL2A1 CL E G H128094068ORPHA15707312200120140
HP:0000774HP:0000774Narrow chest0COL2A1 CL E G H128093296ORPHA15707312200120140
HP:0000774HP:0000774Narrow chest0COL2A1 CL E G H1280151210Platyspondylic lethal skeletal dysplasia Torrance type151210C1835437OMIM15707312200120140
HP:0000774HP:0000774Narrow chest0CRTAP CL E G H10491610682Osteogenesis imperfecta type 7610682C1853162OMIM1303062379605497
HP:0000774HP:0000774Narrow chest0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0000774HP:0000774Narrow chest0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM1116027030617048
HP:0000774HP:0000774Narrow chest0DYNC2H1 CL E G H79659474ORPHA12078892962603297
HP:0000774HP:0000774Narrow chest0DYNC2H1 CL E G H7965993271ORPHA12078892962603297
HP:0000774HP:0000774Narrow chest0DYNC2LI1 CL E G H51626474ORPHA11417324595617083
HP:0000774HP:0000774Narrow chest0DYNC2LI1 CL E G H51626289ORPHA11417324595617083
HP:0000774HP:0000774Narrow chest0EVC CL E G H2121289ORPHA1846523497604831
HP:0000774HP:0000774Narrow chest0EVC CL E G H2121225500Chondroectodermal dysplasia225500C0013903OMIM1846523497604831
HP:0000774HP:0000774Narrow chest0EVC2 CL E G H132884289ORPHA17656719747607261
HP:0000774HP:0000774Narrow chest0EVC2 CL E G H132884225500Chondroectodermal dysplasia225500C0013903OMIM17656719747607261
HP:0000774HP:0000774Narrow chest0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13731723109612411
HP:0000774HP:0000774Narrow chest0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0000774HP:0000774Narrow chest0FGFR2 CL E G H226383ORPHA11593363689176943
HP:0000774HP:0000774Narrow chest0FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM11593363689176943
HP:0000774HP:0000774Narrow chest0FGFR3 CL E G H22611860ORPHA1774313690134934
HP:0000774HP:0000774Narrow chest0FGFR3 CL E G H226193274ORPHA1774313690134934
HP:0000774HP:0000774Narrow chest0FGFR3 CL E G H226115Antisocial personality disorderORPHA1774313690134934
HP:0000774HP:0000774Narrow chest0FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM1774313690134934
HP:0000774HP:0000774Narrow chest0FGFR3 CL E G H2261187601Thanatophoric dysplasia, type 2187601C1300257OMIM1774313690134934
HP:0000774HP:0000774Narrow chest0FLNA CL E G H231690652ORPHA127114723754300017
HP:0000774HP:0000774Narrow chest0FLNA CL E G H23162484Glaucoma type 1CORPHA127114723754300017
HP:0000774HP:0000774Narrow chest0FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM127114723754300017
HP:0000774HP:0000774Narrow chest0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0000774HP:0000774Narrow chest0FLNB CL E G H23171263ORPHA11225203755603381
HP:0000774HP:0000774Narrow chest0FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM11225203755603381
HP:0000774HP:0000774Narrow chest0GLI1 CL E G H2735289ORPHA111334317165220
HP:0000774HP:0000774Narrow chest0GPX4 CL E G H287993317ORPHA14564556138322
HP:0000774HP:0000774Narrow chest0GPX4 CL E G H2879250220Spondylometaphyseal dysplasia Sedaghatian type250220C1855229OMIM14564556138322
HP:0000774HP:0000774Narrow chest0HHAT CL E G H557331422Cohen Hayden syndromeORPHA144818270605743
HP:0000774HP:0000774Narrow chest0HSPG2 CL E G H33391865ORPHA1678625273142461
HP:0000774HP:0000774Narrow chest0IFT122 CL E G H557641515ORPHA12319913556606045
HP:0000774HP:0000774Narrow chest0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12319913556606045
HP:0000774HP:0000774Narrow chest0IFT140 CL E G H9742474ORPHA17253029077614620
HP:0000774HP:0000774Narrow chest0IFT172 CL E G H26160474ORPHA12726930391607386
HP:0000774HP:0000774Narrow chest0IFT43 CL E G H1127521515ORPHA176429669614068
HP:0000774HP:0000774Narrow chest0IFT43 CL E G H112752614099Cranioectodermal dysplasia 3614099C3279807OMIM176429669614068
HP:0000774HP:0000774Narrow chest0IFT52 CL E G H510981515ORPHA153415901617094
HP:0000774HP:0000774Narrow chest0IFT52 CL E G H51098617102Short-rib thoracic dysplasia 16 with or without polydactyly617102C4310718OMIM153415901617094
HP:0000774HP:0000774Narrow chest0IFT80 CL E G H5756093271ORPHA11321129262611177
HP:0000774HP:0000774Narrow chest0IFT80 CL E G H57560474ORPHA11321129262611177
HP:0000774HP:0000774Narrow chest0IFT80 CL E G H57560611263Asphyxiating thoracic dystrophy 2611263C1970005OMIM11321129262611177
HP:0000774HP:0000774Narrow chest0IFT81 CL E G H28981617895SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY617895CN842245OMIM1106014313605489
HP:0000774HP:0000774Narrow chest0IHH CL E G H3549607778Acrocapitofemoral dysplasia607778C1843096OMIM1331155956600726
HP:0000774HP:0000774Narrow chest0INPPL1 CL E G H36363144Krieble Bixler syndromeORPHA132636080600829
HP:0000774HP:0000774Narrow chest0INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM132636080600829
HP:0000774HP:0000774Narrow chest0INTU CL E G H27152617925SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY617925CN902090OMIM1123229239610621
HP:0000774HP:0000774Narrow chest0ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM111606139605025
HP:0000774HP:0000774Narrow chest0KCNJ8 CL E G H37641517ORPHA18876269600935
HP:0000774HP:0000774Narrow chest0KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM13115519960610178
HP:0000774HP:0000774Narrow chest0KLHL7 CL E G H5597597297ORPHA11412715646611119
HP:0000774HP:0000774Narrow chest0LBR CL E G H39301426Coleman Randall syndromeORPHA1281726518600024
HP:0000774HP:0000774Narrow chest0LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM1281726518600024
HP:0000774HP:0000774Narrow chest0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0000774HP:0000774Narrow chest0NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM1303117744604588
HP:0000774HP:0000774Narrow chest0ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM169017151607213
HP:0000774HP:0000774Narrow chest0PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM124429679614336
HP:0000774HP:0000774Narrow chest0POR CL E G H5447207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM1922259208124015
HP:0000774HP:0000774Narrow chest0PTH1R CL E G H574550945ORPHA1451009608168468
HP:0000774HP:0000774Narrow chest0RMRP CL E G H6023175ORPHA112341110031157660
HP:0000774HP:0000774Narrow chest0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM11759610402603474
HP:0000774HP:0000774Narrow chest0RUNX2 CL E G H8601452ORPHA122018110472600211
HP:0000774HP:0000774Narrow chest0RUNX2 CL E G H860119600Cleidocranial dysostosis119600C0008928OMIM122018110472600211
HP:0000774HP:0000774Narrow chest0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM1906019440607444
HP:0000774HP:0000774Narrow chest0SEC23A CL E G H1048450814ORPHA144810701610511
HP:0000774HP:0000774Narrow chest0SERPINH1 CL E G H871613848Osteogenesis imperfecta type 10613848C3151211OMIM181031546600943
HP:0000774HP:0000774Narrow chest0SLC26A2 CL E G H183693298ORPHA15531810994606718
HP:0000774HP:0000774Narrow chest0SLC26A2 CL E G H183656304ORPHA15531810994606718
HP:0000774HP:0000774Narrow chest0SLC26A2 CL E G H1836600972Achondrogenesis, type IB600972C0265274OMIM15531810994606718
HP:0000774HP:0000774Narrow chest0SLC35D1 CL E G H231693144Krieble Bixler syndromeORPHA175320800610804
HP:0000774HP:0000774Narrow chest0SLC35D1 CL E G H23169269250Schneckenbecken dysplasia269250C0432194OMIM175320800610804
HP:0000774HP:0000774Narrow chest0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0000774HP:0000774Narrow chest0SNX10 CL E G H29887667ORPHA1134614974614780
HP:0000774HP:0000774Narrow chest0SOX9 CL E G H6662140Atresia of small intestineORPHA114915511204608160
HP:0000774HP:0000774Narrow chest0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM133111301604857
HP:0000774HP:0000774Narrow chest0TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0000774HP:0000774Narrow chest0TMCO1 CL E G H544991394ORPHA153318188614123
HP:0000774HP:0000774Narrow chest0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM153318188614123
HP:0000774HP:0000774Narrow chest0TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0000774HP:0000774Narrow chest0TRIP11 CL E G H932193299ORPHA11731512305604505
HP:0000774HP:0000774Narrow chest0TRIP11 CL E G H9321184260Goldblatt hypertension184260C0018036OMIM11731512305604505
HP:0000774HP:0000774Narrow chest0TRPV4 CL E G H593412635ORPHA18253918083605427
HP:0000774HP:0000774Narrow chest0TRPV4 CL E G H59341156530Metatrophic dysplasia156530C0265281OMIM18253918083605427
HP:0000774HP:0000774Narrow chest0TTC21B CL E G H79809474ORPHA16333425660612014
HP:0000774HP:0000774Narrow chest0TTC21B CL E G H79809613819Asphyxiating thoracic dystrophy 4613819C3151185OMIM16333425660612014
HP:0000774HP:0000774Narrow chest0UBA1 CL E G H73171145ORPHA1535112469314370
HP:0000774HP:0000774Narrow chest0UPF3B CL E G H65109300676Mental retardation, syndromic 14, X-linked300676C1970822OMIM12122220439300298
HP:0000774HP:0000774Narrow chest0WDR19 CL E G H57728474ORPHA14529418340608151
HP:0000774HP:0000774Narrow chest0WDR19 CL E G H577281515ORPHA14529418340608151
HP:0000774HP:0000774Narrow chest0WDR19 CL E G H57728614376Asphyxiating thoracic dystrophy 5614376C3280598OMIM14529418340608151
HP:0000774HP:0000774Narrow chest0WDR19 CL E G H57728614378Cranioectodermal dysplasia 4614378C3280616OMIM14529418340608151
HP:0000774HP:0000774Narrow chest0WDR34 CL E G H89891474ORPHA12128296613363
HP:0000774HP:0000774Narrow chest0WDR34 CL E G H8989193271ORPHA12128296613363
HP:0000774HP:0000774Narrow chest0WDR34 CL E G H89891615633Short-rib thoracic dysplasia 11 with or without polydactyly615633C3810200OMIM12128296613363
HP:0000774HP:0000774Narrow chest0WDR35 CL E G H575391515ORPHA13129229250613602
HP:0000774HP:0000774Narrow chest0WDR35 CL E G H5753993271ORPHA13129229250613602
HP:0000774HP:0000774Narrow chest0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0000774HP:0000774Narrow chest0WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM13129229250613602
HP:0000774HP:0000774Narrow chest0WDR60 CL E G H5511293271ORPHA11321862615462
HP:0000774HP:0000774Narrow chest0WDR60 CL E G H55112474ORPHA11321862615462
HP:0000774HP:0000774Narrow chest0WDR60 CL E G H55112615503Short-rib thoracic dysplasia 8 with or without polydactyly615503C3809691OMIM11321862615462
HP:0000774HP:0000774Narrow chest0ZBTB20 CL E G H261373042ORPHA12510913503606025
HP:0000774HP:0000774Narrow chest0ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM12510913503606025
HP:0000774HP:0000774Narrow chest0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM11719424931300897
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000774HP:0000774Narrow chest0ACTA1 CL E G H58171439ORPHA0217272129102610
HP:0000774HP:0000774Narrow chest0ACTA1 CL E G H58171436ORPHA0217272129102610
HP:0000774HP:0000774Narrow chest0ACTG2 CL E G H722604Hashimoto-Pritzker syndromeORPHA02049145102545
HP:0000774HP:0000774Narrow chest0ATP7A CL E G H538198ORPHA0357607869300011
HP:0000774HP:0000774Narrow chest0CCDC47 CL E G H57003618268618268618268OMIM0520248560
HP:0000774HP:0000774Narrow chest0CFL2 CL E G H1073171436ORPHA091081875601443
HP:0000774HP:0000774Narrow chest0CTSK CL E G H1513763ORPHA058972536601105
HP:0000774HP:0000774Narrow chest0DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM0171962902300189
HP:0000774HP:0000774Narrow chest0FBN1 CL E G H22002462ORPHA0272142843603134797
HP:0000774HP:0000774Narrow chest0IHH CL E G H354963446ORPHA0331155956600726
HP:0000774HP:0000774Narrow chest0INPPL1 CL E G H36362746Hoyeraal syndromeORPHA032636080600829
HP:0000774HP:0000774Narrow chest0KBTBD13 CL E G H390594171439ORPHA01126037227613727
HP:0000774HP:0000774Narrow chest0KLHL41 CL E G H10324171436ORPHA099816905607701
HP:0000774HP:0000774Narrow chest0KLHL41 CL E G H10324171439ORPHA099816905607701
HP:0000774HP:0000774Narrow chest0KLHL41 CL E G H10324615731Nemaline myopathy 9615731C3810384OMIM099816905607701
HP:0000774HP:0000774Narrow chest0LMNA CL E G H4000157973ORPHA057411526636150330
HP:0000774HP:0000774Narrow chest0LMOD3 CL E G H56203171436ORPHA0181686649616112
HP:0000774HP:0000774Narrow chest0MYPN CL E G H84665171439ORPHA04666423246608517
HP:0000774HP:0000774Narrow chest0NEB CL E G H4703171439ORPHA032130107720161650
HP:0000774HP:0000774Narrow chest0NEB CL E G H4703171436ORPHA032130107720161650
HP:0000774HP:0000774Narrow chest0PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM08888516068605925
HP:0000774HP:0000774Narrow chest0PIGN CL E G H235562059ORPHA0344168967606097
HP:0000774HP:0000774Narrow chest0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA0344168967606097
HP:0000774HP:0000774Narrow chest0PUF60 CL E G H22827508488ORPHA03212917042604819
HP:0000774HP:0000774Narrow chest0SKI CL E G H64972462ORPHA02450210896164780
HP:0000774HP:0000774Narrow chest0TPM2 CL E G H7169171439ORPHA04019912011190990
HP:0000774HP:0000774Narrow chest0TPM2 CL E G H7169171436ORPHA04019912011190990
HP:0000774HP:0000774Narrow chest0TPM3 CL E G H7170171439ORPHA02822512012191030
HP:0000774HP:0000774Narrow chest0TRPV4 CL E G H5934193314ORPHA08253918083605427
HP:0000774HP:0000774Narrow chest0XYLT1 CL E G H64131615777Desbuquois dysplasia 2615777C4014294OMIM02316715516608124


Genes (100) :ABCC9 ACTA1 ACTG2 ADAMTS3 AGRN ASXL1 ATP7A B3GAT3 B4GALT7 BCOR CANT1 CASR CCBE1 CCDC47 CEP120 CFL2 CHST3 CLCN7 COL11A1 COL11A2 COL2A1 CRTAP CTSK DCHS1 DLG3 DNAJC21 DYNC2H1 DYNC2LI1 EVC EVC2 FAT4 FBN1 FGFR2 FGFR3 FLNA FLNB GLI1 GPX4 HHAT HSPG2 IFT122 IFT140 IFT172 IFT43 IFT52 IFT80 IFT81 IHH INPPL1 INTU ITGA3 KBTBD13 KCNJ8 KIAA0586 KLHL41 KLHL7 LBR LMNA LMOD3 MYPN NAA10 NEB NEK1 ORC6 PAM16 PCNT PIGN POR PTH1R PUF60 RMRP RPS19 RUNX2 SBDS SEC23A SERPINH1 SKI SLC26A2 SLC35D1 SLC9A6 SNX10 SOX9 SRP54 TCIRG1 TMCO1 TNFSF11 TPM2 TPM3 TRIP11 TRPV4 TTC21B UBA1 UPF3B WDR19 WDR34 WDR35 WDR60 XYLT1 ZBTB20 ZC4H2

Diseases (112) :1517 239850 171436 171439 2604 2136 615120 97297 565 198 304150 245600 130070 309800 251450 417 239200 618268 474 616300 667 2021 440354 93296 85166 94068 151210 610682 763 601390 300850 260400 93271 289 225500 615546 2462 83 207410 1860 93274 15 187600 187601 90652 2484 309350 304120 1263 108720 93317 250220 1422 1865 1515 218330 614099 617102 611263 617895 63446 607778 2746 3144 258480 617925 614748 616546 615731 1426 215140 157973 263520 613803 613320 210720 2059 280633 50945 508488 175 105650 1452 119600 50814 613848 56304 93298 600972 269250 300243 140 1394 213980 93299 184260 2635 93314 156530 613819 1145 300676 614376 614378 615633 613610 614091 615503 615777 3042 259050 314580
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.