Human Phenotype Ontology 
Grandparent Node:
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Abnormal thorax morphology (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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000774HP:0000774Narrow chest0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0000774HP:0000774Narrow chest0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent254
HP:0000774HP:0000774Narrow chest0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0000774HP:0000774Narrow chest0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional96
HP:0000774HP:0000774Narrow chest0ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathyHP:0040283 - Occasional23
HP:0000774HP:0000774Narrow chest0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040282 - Frequent1
HP:0000774HP:0000774Narrow chest0AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8.127
HP:0000774HP:0000774Narrow chest0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040282 - Frequent192
HP:0000774HP:0000774Narrow chest0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0000774HP:0000774Narrow chest0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040283 - Occasional192
HP:0000774HP:0000774Narrow chest0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0000774HP:0000774Narrow chest0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1.29
HP:0000774HP:0000774Narrow chest0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000774HP:0000774Narrow chest0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0000774HP:0000774Narrow chest0CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe.272
HP:0000774HP:0000774Narrow chest0CASR CL E G H8461514ORPHA:417Neonatal severe primary hyperparathyroidismHP:0040281 - Very frequent272
HP:0000774HP:0000774Narrow chest0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040282 - Frequent147
HP:0000774HP:0000774Narrow chest0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndromeHP:0040284 - Very rare
HP:0000774HP:0000774Narrow chest0CEP120 CL E G H15324126690ORPHA:474Jeune syndromeHP:0040281 - Very frequent7
HP:0000774HP:0000774Narrow chest0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0000774HP:0000774Narrow chest0CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial
HP:0000774HP:0000774Narrow chest0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional35
HP:0000774HP:0000774Narrow chest0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0000774HP:0000774Narrow chest0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA.
HP:0000774HP:0000774Narrow chest0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent102
HP:0000774HP:0000774Narrow chest0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeHP:0040281 - Very frequent215
HP:0000774HP:0000774Narrow chest0COL11A1 CL E G H13012186ORPHA:2021FibrochondrogenesisHP:0040281 - Very frequent215
HP:0000774HP:0000774Narrow chest0COL11A2 CL E G H13022187ORPHA:2021FibrochondrogenesisHP:0040281 - Very frequent222
HP:0000774HP:0000774Narrow chest0COL2A1 CL E G H12802200ORPHA:93296Achondrogenesis type 2HP:0040282 - Frequent284
HP:0000774HP:0000774Narrow chest0COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance typeHP:0040281 - Very frequent284
HP:0000774HP:0000774Narrow chest0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type.284
HP:0000774HP:0000774Narrow chest0CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI4
HP:0000774HP:0000774Narrow chest0CRTAP CL E G H104912379OMIM:610682Osteogenesis imperfecta, type VII.124
HP:0000774HP:0000774Narrow chest0CTSK CL E G H15132536ORPHA:763PycnodysostosisHP:0040283 - Occasional39
HP:0000774HP:0000774Narrow chest0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0000774HP:0000774Narrow chest0DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0000774HP:0000774Narrow chest0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000774HP:0000774Narrow chest0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0000774HP:0000774Narrow chest0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome.9
HP:0000774HP:0000774Narrow chest0DYNC2H1 CL E G H796592962ORPHA:474Jeune syndromeHP:0040281 - Very frequent304
HP:0000774HP:0000774Narrow chest0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent304
HP:0000774HP:0000774Narrow chest0DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndromeHP:0040281 - Very frequent
HP:0000774HP:0000774Narrow chest0DYNC2I1 CL E G H5511221862OMIM:615503Short rib-polydactyly syndrome, type VI.
HP:0000774HP:0000774Narrow chest0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent
HP:0000774HP:0000774Narrow chest0DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndromeHP:0040281 - Very frequent
HP:0000774HP:0000774Narrow chest0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent
HP:0000774HP:0000774Narrow chest0DYNC2I2 CL E G H8989128296OMIM:615633Short-Rib thoracic dysplasia 11 with or without polydactyly.
HP:0000774HP:0000774Narrow chest0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent7
HP:0000774HP:0000774Narrow chest0DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndromeHP:0040281 - Very frequent7
HP:0000774HP:0000774Narrow chest0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0000774HP:0000774Narrow chest0DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly.
HP:0000774HP:0000774Narrow chest0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent209
HP:0000774HP:0000774Narrow chest0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0000774HP:0000774Narrow chest0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent137
HP:0000774HP:0000774Narrow chest0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0000774HP:0000774Narrow chest0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040282 - Frequent114
HP:0000774HP:0000774Narrow chest0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0000774HP:0000774Narrow chest0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000774HP:0000774Narrow chest0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional1361
HP:0000774HP:0000774Narrow chest0FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.175
HP:0000774HP:0000774Narrow chest0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1HP:0040281 - Very frequent145
HP:0000774HP:0000774Narrow chest0FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2HP:0040281 - Very frequent145
HP:0000774HP:0000774Narrow chest0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I.145
HP:0000774HP:0000774Narrow chest0FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II.145
HP:0000774HP:0000774Narrow chest0FLNA CL E G H23163754ORPHA:2484Melnick-Needles syndromeHP:0040281 - Very frequent493
HP:0000774HP:0000774Narrow chest0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0000774HP:0000774Narrow chest0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040281 - Very frequent493
HP:0000774HP:0000774Narrow chest0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0000774HP:0000774Narrow chest0FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type IHP:0040282 - Frequent233
HP:0000774HP:0000774Narrow chest0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0000774HP:0000774Narrow chest0FLNB CL E G H23173755ORPHA:1263Boomerang dysplasiaHP:0040281 - Very frequent233
HP:0000774HP:0000774Narrow chest0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0000774HP:0000774Narrow chest0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent1
HP:0000774HP:0000774Narrow chest0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040282 - Frequent240
HP:0000774HP:0000774Narrow chest0GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian typeHP:0040282 - Frequent3
HP:0000774HP:0000774Narrow chest0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0000774HP:0000774Narrow chest0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndromeHP:0040281 - Very frequent
HP:0000774HP:0000774Narrow chest0HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0000774HP:0000774Narrow chest0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040282 - Frequent345
HP:0000774HP:0000774Narrow chest0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0000774HP:0000774Narrow chest0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent93
HP:0000774HP:0000774Narrow chest0IFT140 CL E G H974229077ORPHA:474Jeune syndromeHP:0040281 - Very frequent148
HP:0000774HP:0000774Narrow chest0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0000774HP:0000774Narrow chest0IFT172 CL E G H2616030391ORPHA:474Jeune syndromeHP:0040281 - Very frequent48
HP:0000774HP:0000774Narrow chest0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent11
HP:0000774HP:0000774Narrow chest0IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 3.11
HP:0000774HP:0000774Narrow chest0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent4
HP:0000774HP:0000774Narrow chest0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0000774HP:0000774Narrow chest0IFT80 CL E G H5756029262OMIM:611263Asphyxiating thoracic dystrophy 2.65
HP:0000774HP:0000774Narrow chest0IFT80 CL E G H5756029262ORPHA:474Jeune syndromeHP:0040281 - Very frequent65
HP:0000774HP:0000774Narrow chest0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent65
HP:0000774HP:0000774Narrow chest0IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly.2
HP:0000774HP:0000774Narrow chest0IHH CL E G H35495956ORPHA:63446Acrocapitofemoral dysplasiaHP:0040283 - Occasional44
HP:0000774HP:0000774Narrow chest0IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0000774HP:0000774Narrow chest0INPPL1 CL E G H36366080ORPHA:2746OpsismodysplasiaHP:0040283 - Occasional18
HP:0000774HP:0000774Narrow chest0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0000774HP:0000774Narrow chest0INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent18
HP:0000774HP:0000774Narrow chest0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly.
HP:0000774HP:0000774Narrow chest0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.6
HP:0000774HP:0000774Narrow chest0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000774HP:0000774Narrow chest0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0000774HP:0000774Narrow chest0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent23
HP:0000774HP:0000774Narrow chest0KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly.24
HP:0000774HP:0000774Narrow chest0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0000774HP:0000774Narrow chest0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0000774HP:0000774Narrow chest0KLHL41 CL E G H1032416905OMIM:615731Nemaline myopathy 9HP:0040283 - Occasional13
HP:0000774HP:0000774Narrow chest0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional13
HP:0000774HP:0000774Narrow chest0KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 2.5
HP:0000774HP:0000774Narrow chest0LBR CL E G H39306518ORPHA:1426Greenberg dysplasiaHP:0040282 - Frequent70
HP:0000774HP:0000774Narrow chest0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0000774HP:0000774Narrow chest0LMNA CL E G H40006636ORPHA:157973Congenital muscular dystrophy due to LMNA mutationHP:0040283 - Occasional645
HP:0000774HP:0000774Narrow chest0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional11
HP:0000774HP:0000774Narrow chest0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0000774HP:0000774Narrow chest0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000774HP:0000774Narrow chest0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000774HP:0000774Narrow chest0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000774HP:0000774Narrow chest0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0000774HP:0000774Narrow chest0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000774HP:0000774Narrow chest0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0000774HP:0000774Narrow chest0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional745
HP:0000774HP:0000774Narrow chest0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101
HP:0000774HP:0000774Narrow chest0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0000774HP:0000774Narrow chest0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0000774HP:0000774Narrow chest0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0000774HP:0000774Narrow chest0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0000774HP:0000774Narrow chest0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0000774HP:0000774Narrow chest0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type IIHP:0040283 - Occasional531
HP:0000774HP:0000774Narrow chest0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040283 - Occasional37
HP:0000774HP:0000774Narrow chest0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000774HP:0000774Narrow chest0PLCB3 CL E G H53319056OMIM:618961SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0000774HP:0000774Narrow chest0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0000774HP:0000774Narrow chest0POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.76
HP:0000774HP:0000774Narrow chest0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0000774HP:0000774Narrow chest0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0000774HP:0000774Narrow chest0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0000774HP:0000774Narrow chest0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0000774HP:0000774Narrow chest0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040281 - Very frequent58
HP:0000774HP:0000774Narrow chest0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0000774HP:0000774Narrow chest0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040282 - Frequent37
HP:0000774HP:0000774Narrow chest0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0000774HP:0000774Narrow chest0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0000774HP:0000774Narrow chest0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000774HP:0000774Narrow chest0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040281 - Very frequent90
HP:0000774HP:0000774Narrow chest0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0000774HP:0000774Narrow chest0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 1.26
HP:0000774HP:0000774Narrow chest0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040282 - Frequent2
HP:0000774HP:0000774Narrow chest0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia2
HP:0000774HP:0000774Narrow chest0SERPINH1 CL E G H8711546OMIM:613848Osteogenesis imperfecta, type X.52
HP:0000774HP:0000774Narrow chest0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional150
HP:0000774HP:0000774Narrow chest0SLC26A2 CL E G H183610994ORPHA:93298Achondrogenesis type 1BHP:0040281 - Very frequent166
HP:0000774HP:0000774Narrow chest0SLC26A2 CL E G H183610994OMIM:600972Achondrogenesis, type IB.166
HP:0000774HP:0000774Narrow chest0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0000774HP:0000774Narrow chest0SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent9
HP:0000774HP:0000774Narrow chest0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia.9
HP:0000774HP:0000774Narrow chest0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0000774HP:0000774Narrow chest0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type.93
HP:0000774HP:0000774Narrow chest0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent2
HP:0000774HP:0000774Narrow chest0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040281 - Very frequent109
HP:0000774HP:0000774Narrow chest0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1.
HP:0000774HP:0000774Narrow chest0TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent82
HP:0000774HP:0000774Narrow chest0TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 876
HP:0000774HP:0000774Narrow chest0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040281 - Very frequent6
HP:0000774HP:0000774Narrow chest0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0000774HP:0000774Narrow chest0TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent44
HP:0000774HP:0000774Narrow chest0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0000774HP:0000774Narrow chest0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional54
HP:0000774HP:0000774Narrow chest0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0000774HP:0000774Narrow chest0TRIP11 CL E G H932112305ORPHA:93299Achondrogenesis type 1AHP:0040281 - Very frequent133
HP:0000774HP:0000774Narrow chest0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0000774HP:0000774Narrow chest0TRIP11 CL E G H932112305ORPHA:166272OdontochondrodysplasiaHP:0040281 - Very frequent133
HP:0000774HP:0000774Narrow chest0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia.133
HP:0000774HP:0000774Narrow chest0TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasiaHP:0040281 - Very frequent214
HP:0000774HP:0000774Narrow chest0TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia.214
HP:0000774HP:0000774Narrow chest0TRPV6 CL E G H5550314006OMIM:618188Hyperparathyroidism, transient neonatal.4
HP:0000774HP:0000774Narrow chest0TRPV6 CL E G H5550314006ORPHA:417Neonatal severe primary hyperparathyroidismHP:0040281 - Very frequent4
HP:0000774HP:0000774Narrow chest0TTC21B CL E G H7980925660ORPHA:474Jeune syndromeHP:0040281 - Very frequent132
HP:0000774HP:0000774Narrow chest0TTC21B CL E G H7980925660OMIM:613819Short-Rib thoracic dysplasia 4 with or without polydactyly.132
HP:0000774HP:0000774Narrow chest0UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0000774HP:0000774Narrow chest0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent95
HP:0000774HP:0000774Narrow chest0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 4.95
HP:0000774HP:0000774Narrow chest0WDR19 CL E G H5772818340ORPHA:474Jeune syndromeHP:0040281 - Very frequent95
HP:0000774HP:0000774Narrow chest0WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly.95
HP:0000774HP:0000774Narrow chest0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent136
HP:0000774HP:0000774Narrow chest0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0000774HP:0000774Narrow chest0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent136
HP:0000774HP:0000774Narrow chest0WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly136
HP:0000774HP:0000774Narrow chest0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0000774HP:0000774Narrow chest0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndromeHP:0040282 - Frequent17
HP:0000774HP:0000774Narrow chest0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome.17
HP:0000774HP:0000774Narrow chest0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0000774HP:0000774Narrow chest0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19


Genes (123) :ABCC9 ACTA1 ACTG2 ADAMTS3 AGRN ATP7A B3GAT3 B4GALT7 BCOR CANT1 CASR CCBE1 CCDC47 CEP120 CFAP410 CFL2 CHST3 CILK1 CLCN7 COL11A1 COL11A2 COL2A1 CREB3L1 CRTAP CTSK DCHS1 DLG3 DLK1 DNAJC21 DONSON DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EVC EVC2 FAT4 FBN1 FGFR2 FGFR3 FLNA FLNB GAD1 GLI1 GNPTAB GPX4 HHAT HSPG2 IFT122 IFT140 IFT172 IFT43 IFT52 IFT80 IFT81 IHH INPPL1 INTU ITGA3 KAT6A KBTBD13 KCNJ8 KIAA0586 KIAA0753 KLHL41 KYNU LBR LMNA LMOD3 MED12 MEG3 MESD MYOD1 MYPN NAA10 NEB NEK1 NEK9 NEPRO ORC6 PAM16 PCGF2 PCNT PIGN PLCB3 POLR3A POR PRKACA PRKACB PTH1R PUF60 RMRP RPS19 RTL1 RUNX2 SBDS SEC23A SERPINH1 SKI SLC26A2 SLC35D1 SLC37A4 SLC9A6 SNX10 SOX9 SRP54 TCIRG1 TCTN2 TMCO1 TNFSF11 TPM2 TPM3 TRIP11 TRPV4 TRPV6 TTC21B UPF3B WDR19 WDR35 XYLT1 ZBTB20 ZC4H2

Diseases (140) :OMIM:239850 ORPHA:1517 ORPHA:171439 ORPHA:171436 ORPHA:2604 ORPHA:2136 OMIM:615120 ORPHA:565 OMIM:304150 ORPHA:198 OMIM:245600 OMIM:130070 OMIM:309800 OMIM:251450 OMIM:239200 ORPHA:417 OMIM:618268 ORPHA:474 OMIM:616300 OMIM:602271 OMIM:612651 ORPHA:667 ORPHA:440354 ORPHA:2021 ORPHA:93296 ORPHA:85166 OMIM:151210 OMIM:616229 OMIM:610682 ORPHA:763 OMIM:601390 OMIM:300850 ORPHA:96334 OMIM:260400 OMIM:251230 ORPHA:93271 OMIM:615503 OMIM:615633 ORPHA:289 OMIM:617088 OMIM:617405 OMIM:225500 OMIM:615546 OMIM:616914 ORPHA:2462 OMIM:207410 ORPHA:1860 ORPHA:93274 OMIM:187600 OMIM:187601 ORPHA:2484 OMIM:309350 ORPHA:90652 OMIM:304120 ORPHA:1190 OMIM:108720 ORPHA:1263 OMIM:619124 ORPHA:576 ORPHA:93317 OMIM:250220 ORPHA:1422 OMIM:600092 ORPHA:1865 OMIM:218330 ORPHA:1515 OMIM:266920 OMIM:614099 OMIM:617102 OMIM:611263 OMIM:617895 ORPHA:63446 OMIM:607778 ORPHA:2746 OMIM:258480 ORPHA:3144 OMIM:617925 OMIM:614748 OMIM:616268 OMIM:616546 OMIM:619479 OMIM:615731 OMIM:617661 ORPHA:1426 OMIM:215140 ORPHA:157973 OMIM:300895 OMIM:618644 OMIM:618975 OMIM:263520 OMIM:617022 OMIM:618853 OMIM:613803 OMIM:613320 OMIM:618371 OMIM:210720 ORPHA:2059 ORPHA:280633 OMIM:618961 OMIM:264090 ORPHA:95699 OMIM:619143 ORPHA:50945 ORPHA:508488 ORPHA:175 OMIM:250250 OMIM:105650 ORPHA:1452 OMIM:119600 ORPHA:50814 OMIM:607812 OMIM:613848 ORPHA:93298 OMIM:600972 ORPHA:56304 OMIM:269250 OMIM:619525 OMIM:300243 ORPHA:140 OMIM:613885 ORPHA:1394 OMIM:213980 ORPHA:93299 OMIM:200600 ORPHA:166272 OMIM:184260 ORPHA:2635 OMIM:156530 OMIM:618188 OMIM:613819 OMIM:300676 OMIM:614378 OMIM:614376 OMIM:613610 OMIM:614091 OMIM:615777 ORPHA:3042 OMIM:259050 OMIM:314580 OMIM:301041
 

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