Human Phenotype Ontology 
Grandparent Node:
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Abnormal axial skeleton morphology (HP:0009121)help
Parent Node:
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Abnormal thorax morphology (HP:0000765)help
..Starting node
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Thoracic hypoplasia (HP:0005257)help
Term ID: 5257
Name: Thoracic hypoplasia
Synonym: Small chest; Small thorax
Definition:
Comments:
Reference: HP:0005257
Genes and Diseases:
 
       Child Nodes:
........expandNarrow chest (HP:0000774) help
........expandUnilateral chest hypoplasia (HP:0005254) help
........expandCongenital microthorax (HP:0006647) help

 Sister Nodes: 
..expandAbnormal clavicle morphology (HP:0000889) help
..expandAbnormal rib cage morphology (HP:0001547) help
..expandAbnormal scapula morphology (HP:0000782) help
..expandAbnormal shoulder morphology (HP:0003043) help
..expandAbnormal sternum morphology (HP:0000766) help
..expandAbnormal thoracic spine morphology (HP:0100711) help
..expandAplasia/Hypoplasia involving bones of the thorax (HP:0006711) help
..expandChest pain (HP:0100749) help
..expandIntercostal muscle weakness (HP:0004878) help
..expandShort thorax (HP:0010306) help
..expandThoracoabdominal wall defect (HP:0100656) 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:0005257HP:0005257Thoracic hypoplasia0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia254
HP:0005257HP:0005257Thoracic hypoplasia0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type254
HP:0005257HP:0005257Thoracic hypoplasia0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0005257HP:0005257Thoracic hypoplasia0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathy96
HP:0005257HP:0005257Thoracic hypoplasia0ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathy23
HP:0005257HP:0005257Thoracic hypoplasia0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndrome1
HP:0005257HP:0005257Thoracic hypoplasia0AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8127
HP:0005257HP:0005257Thoracic hypoplasia0ATP7A CL E G H538869ORPHA:565Menkes disease192
HP:0005257HP:0005257Thoracic hypoplasia0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome192
HP:0005257HP:0005257Thoracic hypoplasia0ATP7A CL E G H538869ORPHA:198Occipital horn syndrome192
HP:0005257HP:0005257Thoracic hypoplasia0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0005257HP:0005257Thoracic hypoplasia0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0005257HP:0005257Thoracic hypoplasia0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0005257HP:0005257Thoracic hypoplasia0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0005257HP:0005257Thoracic hypoplasia0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0005257HP:0005257Thoracic hypoplasia0CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe272
HP:0005257HP:0005257Thoracic hypoplasia0CASR CL E G H8461514ORPHA:417Neonatal severe primary hyperparathyroidism272
HP:0005257HP:0005257Thoracic hypoplasia0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndrome147
HP:0005257HP:0005257Thoracic hypoplasia0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0005257HP:0005257Thoracic hypoplasia0CEP120 CL E G H15324126690ORPHA:474Jeune syndrome7
HP:0005257HP:0005257Thoracic hypoplasia0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly7
HP:0005257HP:0005257Thoracic hypoplasia0CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial.
HP:0005257HP:0005257Thoracic hypoplasia0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathy35
HP:0005257HP:0005257Thoracic hypoplasia0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0005257HP:0005257Thoracic hypoplasia0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0005257HP:0005257Thoracic hypoplasia0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosis102
HP:0005257HP:0005257Thoracic hypoplasia0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome215
HP:0005257HP:0005257Thoracic hypoplasia0COL11A1 CL E G H13012186ORPHA:2021Fibrochondrogenesis215
HP:0005257HP:0005257Thoracic hypoplasia0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0005257HP:0005257Thoracic hypoplasia0COL11A2 CL E G H13022187ORPHA:2021Fibrochondrogenesis222
HP:0005257HP:0005257Thoracic hypoplasia0COL11A2 CL E G H13022187OMIM:614524Fibrochondrogenesis 2.222
HP:0005257HP:0005257Thoracic hypoplasia0COL1A1 CL E G H12772197OMIM:166210Osteogenesis imperfecta, type IIA373
HP:0005257HP:0005257Thoracic hypoplasia0COL1A2 CL E G H12782198OMIM:166210Osteogenesis imperfecta, type IIA243
HP:0005257HP:0005257Thoracic hypoplasia0COL2A1 CL E G H12802200ORPHA:93296Achondrogenesis type 2284
HP:0005257HP:0005257Thoracic hypoplasia0COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance type284
HP:0005257HP:0005257Thoracic hypoplasia0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0005257HP:0005257Thoracic hypoplasia0CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI4
HP:0005257HP:0005257Thoracic hypoplasia0CRTAP CL E G H104912379OMIM:610682Osteogenesis imperfecta, type VII124
HP:0005257HP:0005257Thoracic hypoplasia0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0005257HP:0005257Thoracic hypoplasia0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0005257HP:0005257Thoracic hypoplasia0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 127
HP:0005257HP:0005257Thoracic hypoplasia0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0005257HP:0005257Thoracic hypoplasia0DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat typeHP:0040282 - Frequent
HP:0005257HP:0005257Thoracic hypoplasia0DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0005257HP:0005257Thoracic hypoplasia0DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040281 - Very frequent1
HP:0005257HP:0005257Thoracic hypoplasia0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040281 - Very frequent1
HP:0005257HP:0005257Thoracic hypoplasia0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0005257HP:0005257Thoracic hypoplasia0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 15
HP:0005257HP:0005257Thoracic hypoplasia0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome9
HP:0005257HP:0005257Thoracic hypoplasia0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3.304
HP:0005257HP:0005257Thoracic hypoplasia0DYNC2H1 CL E G H796592962ORPHA:474Jeune syndrome304
HP:0005257HP:0005257Thoracic hypoplasia0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type304
HP:0005257HP:0005257Thoracic hypoplasia0DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndrome
HP:0005257HP:0005257Thoracic hypoplasia0DYNC2I1 CL E G H5511221862OMIM:615503Short rib-polydactyly syndrome, type VI
HP:0005257HP:0005257Thoracic hypoplasia0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0005257HP:0005257Thoracic hypoplasia0DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndrome
HP:0005257HP:0005257Thoracic hypoplasia0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0005257HP:0005257Thoracic hypoplasia0DYNC2I2 CL E G H8989128296OMIM:615633Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0005257HP:0005257Thoracic hypoplasia0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndrome7
HP:0005257HP:0005257Thoracic hypoplasia0DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndrome7
HP:0005257HP:0005257Thoracic hypoplasia0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0005257HP:0005257Thoracic hypoplasia0DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0005257HP:0005257Thoracic hypoplasia0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndrome209
HP:0005257HP:0005257Thoracic hypoplasia0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome209
HP:0005257HP:0005257Thoracic hypoplasia0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndrome137
HP:0005257HP:0005257Thoracic hypoplasia0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome137
HP:0005257HP:0005257Thoracic hypoplasia0FAM20C CL E G H5697522140OMIM:259775Raine syndrome.35
HP:0005257HP:0005257Thoracic hypoplasia0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndrome114
HP:0005257HP:0005257Thoracic hypoplasia0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2114
HP:0005257HP:0005257Thoracic hypoplasia0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0005257HP:0005257Thoracic hypoplasia0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndrome1361
HP:0005257HP:0005257Thoracic hypoplasia0FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis175
HP:0005257HP:0005257Thoracic hypoplasia0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0005257HP:0005257Thoracic hypoplasia0FGFR3 CL E G H22613690ORPHA:15AchondroplasiaHP:0040283 - Occasional145
HP:0005257HP:0005257Thoracic hypoplasia0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1145
HP:0005257HP:0005257Thoracic hypoplasia0FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2145
HP:0005257HP:0005257Thoracic hypoplasia0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0005257HP:0005257Thoracic hypoplasia0FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II145
HP:0005257HP:0005257Thoracic hypoplasia0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome493
HP:0005257HP:0005257Thoracic hypoplasia0FLNA CL E G H23163754ORPHA:2484Melnick-Needles syndrome493
HP:0005257HP:0005257Thoracic hypoplasia0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2493
HP:0005257HP:0005257Thoracic hypoplasia0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II493
HP:0005257HP:0005257Thoracic hypoplasia0FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type IHP:0040282 - Frequent233
HP:0005257HP:0005257Thoracic hypoplasia0FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type IIIHP:0040283 - Occasional233
HP:0005257HP:0005257Thoracic hypoplasia0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0005257HP:0005257Thoracic hypoplasia0FLNB CL E G H23173755ORPHA:1263Boomerang dysplasia233
HP:0005257HP:0005257Thoracic hypoplasia0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0005257HP:0005257Thoracic hypoplasia0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0005257HP:0005257Thoracic hypoplasia0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndrome1
HP:0005257HP:0005257Thoracic hypoplasia0GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0005257HP:0005257Thoracic hypoplasia0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0005257HP:0005257Thoracic hypoplasia0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0005257HP:0005257Thoracic hypoplasia0GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0005257HP:0005257Thoracic hypoplasia0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndrome
HP:0005257HP:0005257Thoracic hypoplasia0HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0005257HP:0005257Thoracic hypoplasia0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency.98
HP:0005257HP:0005257Thoracic hypoplasia0HSPG2 CL E G H33395273OMIM:224410Dyssegmental dysplasia, Silverman-Handmaker type.345
HP:0005257HP:0005257Thoracic hypoplasia0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker type345
HP:0005257HP:0005257Thoracic hypoplasia0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0005257HP:0005257Thoracic hypoplasia0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasia93
HP:0005257HP:0005257Thoracic hypoplasia0IFT140 CL E G H974229077ORPHA:474Jeune syndrome148
HP:0005257HP:0005257Thoracic hypoplasia0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0005257HP:0005257Thoracic hypoplasia0IFT172 CL E G H2616030391ORPHA:474Jeune syndrome48
HP:0005257HP:0005257Thoracic hypoplasia0IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly.48
HP:0005257HP:0005257Thoracic hypoplasia0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasia11
HP:0005257HP:0005257Thoracic hypoplasia0IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 311
HP:0005257HP:0005257Thoracic hypoplasia0IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0005257HP:0005257Thoracic hypoplasia0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasia4
HP:0005257HP:0005257Thoracic hypoplasia0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly4
HP:0005257HP:0005257Thoracic hypoplasia0IFT80 CL E G H5756029262OMIM:611263Asphyxiating thoracic dystrophy 265
HP:0005257HP:0005257Thoracic hypoplasia0IFT80 CL E G H5756029262ORPHA:474Jeune syndrome65
HP:0005257HP:0005257Thoracic hypoplasia0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type65
HP:0005257HP:0005257Thoracic hypoplasia0IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly2
HP:0005257HP:0005257Thoracic hypoplasia0IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0005257HP:0005257Thoracic hypoplasia0IHH CL E G H35495956ORPHA:63446Acrocapitofemoral dysplasia44
HP:0005257HP:0005257Thoracic hypoplasia0IL6ST CL E G H35726021OMIM:619751STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0005257HP:0005257Thoracic hypoplasia0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA18
HP:0005257HP:0005257Thoracic hypoplasia0INPPL1 CL E G H36366080ORPHA:2746Opsismodysplasia18
HP:0005257HP:0005257Thoracic hypoplasia0INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasia18
HP:0005257HP:0005257Thoracic hypoplasia0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0005257HP:0005257Thoracic hypoplasia0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital6
HP:0005257HP:0005257Thoracic hypoplasia0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0005257HP:0005257Thoracic hypoplasia0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0005257HP:0005257Thoracic hypoplasia0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type23
HP:0005257HP:0005257Thoracic hypoplasia0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0005257HP:0005257Thoracic hypoplasia0KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly24
HP:0005257HP:0005257Thoracic hypoplasia0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0005257HP:0005257Thoracic hypoplasia0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0005257HP:0005257Thoracic hypoplasia0KLHL41 CL E G H1032416905OMIM:615731Nemaline myopathy 913
HP:0005257HP:0005257Thoracic hypoplasia0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathy13
HP:0005257HP:0005257Thoracic hypoplasia0KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 25
HP:0005257HP:0005257Thoracic hypoplasia0LBR CL E G H39306518ORPHA:1426Greenberg dysplasia70
HP:0005257HP:0005257Thoracic hypoplasia0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0005257HP:0005257Thoracic hypoplasia0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0005257HP:0005257Thoracic hypoplasia0LMNA CL E G H40006636ORPHA:157973Congenital muscular dystrophy due to LMNA mutation645
HP:0005257HP:0005257Thoracic hypoplasia0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathy11
HP:0005257HP:0005257Thoracic hypoplasia0MATN3 CL E G H41486909OMIM:608728Spondyloepimetaphyseal dysplasia, matrilin-3 related.32
HP:0005257HP:0005257Thoracic hypoplasia0MATN3 CL E G H41486909ORPHA:156728Spondyloepimetaphyseal dysplasia, matrilin-3 typeHP:0040283 - Occasional32
HP:0005257HP:0005257Thoracic hypoplasia0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0005257HP:0005257Thoracic hypoplasia0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0005257HP:0005257Thoracic hypoplasia0MEG3 CL E G H5538414575ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040281 - Very frequent1
HP:0005257HP:0005257Thoracic hypoplasia0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040281 - Very frequent1
HP:0005257HP:0005257Thoracic hypoplasia0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0005257HP:0005257Thoracic hypoplasia0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0005257HP:0005257Thoracic hypoplasia0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0005257HP:0005257Thoracic hypoplasia0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0005257HP:0005257Thoracic hypoplasia0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0005257HP:0005257Thoracic hypoplasia0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0005257HP:0005257Thoracic hypoplasia0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0005257HP:0005257Thoracic hypoplasia0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0005257HP:0005257Thoracic hypoplasia0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0005257HP:0005257Thoracic hypoplasia0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathy745
HP:0005257HP:0005257Thoracic hypoplasia0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0005257HP:0005257Thoracic hypoplasia0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0005257HP:0005257Thoracic hypoplasia0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0005257HP:0005257Thoracic hypoplasia0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 339
HP:0005257HP:0005257Thoracic hypoplasia0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type1
HP:0005257HP:0005257Thoracic hypoplasia0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0005257HP:0005257Thoracic hypoplasia0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0005257HP:0005257Thoracic hypoplasia0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0005257HP:0005257Thoracic hypoplasia0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0005257HP:0005257Thoracic hypoplasia0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0005257HP:0005257Thoracic hypoplasia0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome.
HP:0005257HP:0005257Thoracic hypoplasia0PLCB3 CL E G H53319056OMIM:618961SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0005257HP:0005257Thoracic hypoplasia0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0005257HP:0005257Thoracic hypoplasia0POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis76
HP:0005257HP:0005257Thoracic hypoplasia0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0005257HP:0005257Thoracic hypoplasia0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndrome2
HP:0005257HP:0005257Thoracic hypoplasia0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0005257HP:0005257Thoracic hypoplasia0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndrome2
HP:0005257HP:0005257Thoracic hypoplasia0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasia58
HP:0005257HP:0005257Thoracic hypoplasia0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0005257HP:0005257Thoracic hypoplasia0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasia37
HP:0005257HP:0005257Thoracic hypoplasia0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0005257HP:0005257Thoracic hypoplasia0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0005257HP:0005257Thoracic hypoplasia0RTL1 CL E G H38801514665ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040281 - Very frequent
HP:0005257HP:0005257Thoracic hypoplasia0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040281 - Very frequent
HP:0005257HP:0005257Thoracic hypoplasia0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0005257HP:0005257Thoracic hypoplasia0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0005257HP:0005257Thoracic hypoplasia0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0005257HP:0005257Thoracic hypoplasia0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 126
HP:0005257HP:0005257Thoracic hypoplasia0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia2
HP:0005257HP:0005257Thoracic hypoplasia0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasia2
HP:0005257HP:0005257Thoracic hypoplasia0SERPINH1 CL E G H8711546OMIM:613848Osteogenesis imperfecta, type X52
HP:0005257HP:0005257Thoracic hypoplasia0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndrome150
HP:0005257HP:0005257Thoracic hypoplasia0SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis.
HP:0005257HP:0005257Thoracic hypoplasia0SLC26A2 CL E G H183610994ORPHA:93298Achondrogenesis type 1B166
HP:0005257HP:0005257Thoracic hypoplasia0SLC26A2 CL E G H183610994OMIM:600972Achondrogenesis, type IB166
HP:0005257HP:0005257Thoracic hypoplasia0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0005257HP:0005257Thoracic hypoplasia0SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0005257HP:0005257Thoracic hypoplasia0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0005257HP:0005257Thoracic hypoplasia0SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasia9
HP:0005257HP:0005257Thoracic hypoplasia0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0005257HP:0005257Thoracic hypoplasia0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0005257HP:0005257Thoracic hypoplasia0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome.6
HP:0005257HP:0005257Thoracic hypoplasia0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosis2
HP:0005257HP:0005257Thoracic hypoplasia0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0005257HP:0005257Thoracic hypoplasia0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasia109
HP:0005257HP:0005257Thoracic hypoplasia0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1
HP:0005257HP:0005257Thoracic hypoplasia0TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0005257HP:0005257Thoracic hypoplasia0TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosis82
HP:0005257HP:0005257Thoracic hypoplasia0TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 876
HP:0005257HP:0005257Thoracic hypoplasia0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasia6
HP:0005257HP:0005257Thoracic hypoplasia0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0005257HP:0005257Thoracic hypoplasia0TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosis44
HP:0005257HP:0005257Thoracic hypoplasia0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0005257HP:0005257Thoracic hypoplasia0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathy54
HP:0005257HP:0005257Thoracic hypoplasia0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0005257HP:0005257Thoracic hypoplasia0TRIP11 CL E G H932112305ORPHA:93299Achondrogenesis type 1A133
HP:0005257HP:0005257Thoracic hypoplasia0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0005257HP:0005257Thoracic hypoplasia0TRIP11 CL E G H932112305ORPHA:166272Odontochondrodysplasia133
HP:0005257HP:0005257Thoracic hypoplasia0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia133
HP:0005257HP:0005257Thoracic hypoplasia0TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasia214
HP:0005257HP:0005257Thoracic hypoplasia0TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia214
HP:0005257HP:0005257Thoracic hypoplasia0TRPV6 CL E G H5550314006OMIM:618188Hyperparathyroidism, transient neonatal4
HP:0005257HP:0005257Thoracic hypoplasia0TRPV6 CL E G H5550314006ORPHA:417Neonatal severe primary hyperparathyroidism4
HP:0005257HP:0005257Thoracic hypoplasia0TTC21B CL E G H7980925660ORPHA:474Jeune syndrome132
HP:0005257HP:0005257Thoracic hypoplasia0TTC21B CL E G H7980925660OMIM:613819Short-Rib thoracic dysplasia 4 with or without polydactyly132
HP:0005257HP:0005257Thoracic hypoplasia0UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0005257HP:0005257Thoracic hypoplasia0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasia95
HP:0005257HP:0005257Thoracic hypoplasia0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 495
HP:0005257HP:0005257Thoracic hypoplasia0WDR19 CL E G H5772818340ORPHA:474Jeune syndrome95
HP:0005257HP:0005257Thoracic hypoplasia0WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly95
HP:0005257HP:0005257Thoracic hypoplasia0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasia136
HP:0005257HP:0005257Thoracic hypoplasia0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0005257HP:0005257Thoracic hypoplasia0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type136
HP:0005257HP:0005257Thoracic hypoplasia0WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly136
HP:0005257HP:0005257Thoracic hypoplasia0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0005257HP:0005257Thoracic hypoplasia0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndrome17
HP:0005257HP:0005257Thoracic hypoplasia0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0005257HP:0005257Thoracic hypoplasia0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0005257HP:0005257Thoracic hypoplasia0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0005257HP:0006647Congenital microthorax1 CL E G H
HP:0005257HP:0000774Narrow chest1ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0005257HP:0000774Narrow chest1ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent254
HP:0005257HP:0000774Narrow chest1ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0005257HP:0000774Narrow chest1ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional96
HP:0005257HP:0000774Narrow chest1ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathyHP:0040283 - Occasional23
HP:0005257HP:0000774Narrow chest1ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040282 - Frequent1
HP:0005257HP:0000774Narrow chest1AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8.127
HP:0005257HP:0000774Narrow chest1ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040282 - Frequent192
HP:0005257HP:0000774Narrow chest1ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0005257HP:0000774Narrow chest1ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040283 - Occasional192
HP:0005257HP:0000774Narrow chest1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0005257HP:0000774Narrow chest1B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1.29
HP:0005257HP:0000774Narrow chest1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0005257HP:0000774Narrow chest1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0005257HP:0000774Narrow chest1CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe.272
HP:0005257HP:0000774Narrow chest1CASR CL E G H8461514ORPHA:417Neonatal severe primary hyperparathyroidismHP:0040281 - Very frequent272
HP:0005257HP:0000774Narrow chest1CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040282 - Frequent147
HP:0005257HP:0000774Narrow chest1CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndromeHP:0040284 - Very rare
HP:0005257HP:0000774Narrow chest1CEP120 CL E G H15324126690ORPHA:474Jeune syndromeHP:0040281 - Very frequent7
HP:0005257HP:0000774Narrow chest1CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0005257HP:0000774Narrow chest1CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial
HP:0005257HP:0000774Narrow chest1CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional35
HP:0005257HP:0000774Narrow chest1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0005257HP:0000774Narrow chest1CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA.
HP:0005257HP:0000774Narrow chest1CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent102
HP:0005257HP:0000774Narrow chest1COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeHP:0040281 - Very frequent215
HP:0005257HP:0000774Narrow chest1COL11A1 CL E G H13012186ORPHA:2021FibrochondrogenesisHP:0040281 - Very frequent215
HP:0005257HP:0000774Narrow chest1COL11A2 CL E G H13022187ORPHA:2021FibrochondrogenesisHP:0040281 - Very frequent222
HP:0005257HP:0000774Narrow chest1COL2A1 CL E G H12802200ORPHA:93296Achondrogenesis type 2HP:0040282 - Frequent284
HP:0005257HP:0000774Narrow chest1COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance typeHP:0040281 - Very frequent284
HP:0005257HP:0000774Narrow chest1COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type.284
HP:0005257HP:0000774Narrow chest1CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI4
HP:0005257HP:0000774Narrow chest1CRTAP CL E G H104912379OMIM:610682Osteogenesis imperfecta, type VII.124
HP:0005257HP:0000774Narrow chest1CTSK CL E G H15132536ORPHA:763PycnodysostosisHP:0040283 - Occasional39
HP:0005257HP:0000774Narrow chest1DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0005257HP:0000774Narrow chest1DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0005257HP:0000774Narrow chest1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0005257HP:0000774Narrow chest1DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0005257HP:0000774Narrow chest1DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome.9
HP:0005257HP:0000774Narrow chest1DYNC2H1 CL E G H796592962ORPHA:474Jeune syndromeHP:0040281 - Very frequent304
HP:0005257HP:0000774Narrow chest1DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent304
HP:0005257HP:0000774Narrow chest1DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndromeHP:0040281 - Very frequent
HP:0005257HP:0000774Narrow chest1DYNC2I1 CL E G H5511221862OMIM:615503Short rib-polydactyly syndrome, type VI.
HP:0005257HP:0000774Narrow chest1DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent
HP:0005257HP:0000774Narrow chest1DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndromeHP:0040281 - Very frequent
HP:0005257HP:0000774Narrow chest1DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent
HP:0005257HP:0000774Narrow chest1DYNC2I2 CL E G H8989128296OMIM:615633Short-Rib thoracic dysplasia 11 with or without polydactyly.
HP:0005257HP:0000774Narrow chest1DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent7
HP:0005257HP:0000774Narrow chest1DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndromeHP:0040281 - Very frequent7
HP:0005257HP:0000774Narrow chest1DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0005257HP:0000774Narrow chest1DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly.
HP:0005257HP:0000774Narrow chest1EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent209
HP:0005257HP:0000774Narrow chest1EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0005257HP:0000774Narrow chest1EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent137
HP:0005257HP:0000774Narrow chest1EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0005257HP:0000774Narrow chest1FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040282 - Frequent114
HP:0005257HP:0000774Narrow chest1FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0005257HP:0000774Narrow chest1FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0005257HP:0000774Narrow chest1FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional1361
HP:0005257HP:0000774Narrow chest1FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.175
HP:0005257HP:0000774Narrow chest1FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1HP:0040281 - Very frequent145
HP:0005257HP:0000774Narrow chest1FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2HP:0040281 - Very frequent145
HP:0005257HP:0000774Narrow chest1FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I.145
HP:0005257HP:0000774Narrow chest1FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II.145
HP:0005257HP:0000774Narrow chest1FLNA CL E G H23163754ORPHA:2484Melnick-Needles syndromeHP:0040281 - Very frequent493
HP:0005257HP:0000774Narrow chest1FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0005257HP:0000774Narrow chest1FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040281 - Very frequent493
HP:0005257HP:0000774Narrow chest1FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0005257HP:0000774Narrow chest1FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type IHP:0040282 - Frequent233
HP:0005257HP:0000774Narrow chest1FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0005257HP:0000774Narrow chest1FLNB CL E G H23173755ORPHA:1263Boomerang dysplasiaHP:0040281 - Very frequent233
HP:0005257HP:0000774Narrow chest1GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0005257HP:0000774Narrow chest1GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent1
HP:0005257HP:0000774Narrow chest1GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040282 - Frequent240
HP:0005257HP:0000774Narrow chest1GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian typeHP:0040282 - Frequent3
HP:0005257HP:0000774Narrow chest1GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0005257HP:0000774Narrow chest1HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndromeHP:0040281 - Very frequent
HP:0005257HP:0000774Narrow chest1HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0005257HP:0000774Narrow chest1HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040282 - Frequent345
HP:0005257HP:0000774Narrow chest1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0005257HP:0000774Narrow chest1IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent93
HP:0005257HP:0000774Narrow chest1IFT140 CL E G H974229077ORPHA:474Jeune syndromeHP:0040281 - Very frequent148
HP:0005257HP:0000774Narrow chest1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0005257HP:0000774Narrow chest1IFT172 CL E G H2616030391ORPHA:474Jeune syndromeHP:0040281 - Very frequent48
HP:0005257HP:0000774Narrow chest1IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent11
HP:0005257HP:0000774Narrow chest1IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 3.11
HP:0005257HP:0000774Narrow chest1IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent4
HP:0005257HP:0000774Narrow chest1IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0005257HP:0000774Narrow chest1IFT80 CL E G H5756029262OMIM:611263Asphyxiating thoracic dystrophy 2.65
HP:0005257HP:0000774Narrow chest1IFT80 CL E G H5756029262ORPHA:474Jeune syndromeHP:0040281 - Very frequent65
HP:0005257HP:0000774Narrow chest1IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent65
HP:0005257HP:0000774Narrow chest1IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly.2
HP:0005257HP:0000774Narrow chest1IHH CL E G H35495956ORPHA:63446Acrocapitofemoral dysplasiaHP:0040283 - Occasional44
HP:0005257HP:0000774Narrow chest1IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0005257HP:0000774Narrow chest1INPPL1 CL E G H36366080ORPHA:2746OpsismodysplasiaHP:0040283 - Occasional18
HP:0005257HP:0000774Narrow chest1INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0005257HP:0000774Narrow chest1INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent18
HP:0005257HP:0000774Narrow chest1INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly.
HP:0005257HP:0000774Narrow chest1ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.6
HP:0005257HP:0000774Narrow chest1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0005257HP:0000774Narrow chest1KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0005257HP:0000774Narrow chest1KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent23
HP:0005257HP:0000774Narrow chest1KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly.24
HP:0005257HP:0000774Narrow chest1KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0005257HP:0000774Narrow chest1KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0005257HP:0000774Narrow chest1KLHL41 CL E G H1032416905OMIM:615731Nemaline myopathy 9HP:0040283 - Occasional13
HP:0005257HP:0000774Narrow chest1KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional13
HP:0005257HP:0000774Narrow chest1KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 2.5
HP:0005257HP:0000774Narrow chest1LBR CL E G H39306518ORPHA:1426Greenberg dysplasiaHP:0040282 - Frequent70
HP:0005257HP:0000774Narrow chest1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0005257HP:0000774Narrow chest1LMNA CL E G H40006636ORPHA:157973Congenital muscular dystrophy due to LMNA mutationHP:0040283 - Occasional645
HP:0005257HP:0000774Narrow chest1LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional11
HP:0005257HP:0005254Unilateral chest hypoplasia1MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0005257HP:0000774Narrow chest1MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0005257HP:0000774Narrow chest1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0005257HP:0000774Narrow chest1MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0005257HP:0000774Narrow chest1MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0005257HP:0000774Narrow chest1MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0005257HP:0000774Narrow chest1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0005257HP:0000774Narrow chest1NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0005257HP:0000774Narrow chest1NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional745
HP:0005257HP:0000774Narrow chest1NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101
HP:0005257HP:0000774Narrow chest1NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0005257HP:0000774Narrow chest1NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0005257HP:0000774Narrow chest1ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0005257HP:0000774Narrow chest1PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0005257HP:0000774Narrow chest1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0005257HP:0000774Narrow chest1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type IIHP:0040283 - Occasional531
HP:0005257HP:0000774Narrow chest1PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040283 - Occasional37
HP:0005257HP:0000774Narrow chest1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0005257HP:0000774Narrow chest1PLCB3 CL E G H53319056OMIM:618961SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0005257HP:0000774Narrow chest1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0005257HP:0000774Narrow chest1POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.76
HP:0005257HP:0000774Narrow chest1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0005257HP:0000774Narrow chest1PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0005257HP:0000774Narrow chest1PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0005257HP:0000774Narrow chest1PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0005257HP:0000774Narrow chest1PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040281 - Very frequent58
HP:0005257HP:0000774Narrow chest1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0005257HP:0000774Narrow chest1RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040282 - Frequent37
HP:0005257HP:0000774Narrow chest1RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0005257HP:0000774Narrow chest1RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0005257HP:0000774Narrow chest1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0005257HP:0000774Narrow chest1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040281 - Very frequent90
HP:0005257HP:0000774Narrow chest1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0005257HP:0000774Narrow chest1SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 1.26
HP:0005257HP:0000774Narrow chest1SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040282 - Frequent2
HP:0005257HP:0000774Narrow chest1SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia2
HP:0005257HP:0000774Narrow chest1SERPINH1 CL E G H8711546OMIM:613848Osteogenesis imperfecta, type X.52
HP:0005257HP:0000774Narrow chest1SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional150
HP:0005257HP:0000774Narrow chest1SLC26A2 CL E G H183610994ORPHA:93298Achondrogenesis type 1BHP:0040281 - Very frequent166
HP:0005257HP:0000774Narrow chest1SLC26A2 CL E G H183610994OMIM:600972Achondrogenesis, type IB.166
HP:0005257HP:0000774Narrow chest1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0005257HP:0000774Narrow chest1SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent9
HP:0005257HP:0000774Narrow chest1SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia.9
HP:0005257HP:0000774Narrow chest1SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0005257HP:0000774Narrow chest1SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type.93
HP:0005257HP:0000774Narrow chest1SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent2
HP:0005257HP:0000774Narrow chest1SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040281 - Very frequent109
HP:0005257HP:0000774Narrow chest1SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1.
HP:0005257HP:0000774Narrow chest1TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent82
HP:0005257HP:0000774Narrow chest1TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 876
HP:0005257HP:0000774Narrow chest1TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040281 - Very frequent6
HP:0005257HP:0000774Narrow chest1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0005257HP:0000774Narrow chest1TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent44
HP:0005257HP:0000774Narrow chest1TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0005257HP:0000774Narrow chest1TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional54
HP:0005257HP:0000774Narrow chest1TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0005257HP:0000774Narrow chest1TRIP11 CL E G H932112305ORPHA:93299Achondrogenesis type 1AHP:0040281 - Very frequent133
HP:0005257HP:0000774Narrow chest1TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0005257HP:0000774Narrow chest1TRIP11 CL E G H932112305ORPHA:166272OdontochondrodysplasiaHP:0040281 - Very frequent133
HP:0005257HP:0000774Narrow chest1TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia.133
HP:0005257HP:0000774Narrow chest1TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasiaHP:0040281 - Very frequent214
HP:0005257HP:0000774Narrow chest1TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia.214
HP:0005257HP:0000774Narrow chest1TRPV6 CL E G H5550314006OMIM:618188Hyperparathyroidism, transient neonatal.4
HP:0005257HP:0000774Narrow chest1TRPV6 CL E G H5550314006ORPHA:417Neonatal severe primary hyperparathyroidismHP:0040281 - Very frequent4
HP:0005257HP:0000774Narrow chest1TTC21B CL E G H7980925660ORPHA:474Jeune syndromeHP:0040281 - Very frequent132
HP:0005257HP:0000774Narrow chest1TTC21B CL E G H7980925660OMIM:613819Short-Rib thoracic dysplasia 4 with or without polydactyly.132
HP:0005257HP:0000774Narrow chest1UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0005257HP:0000774Narrow chest1WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent95
HP:0005257HP:0000774Narrow chest1WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 4.95
HP:0005257HP:0000774Narrow chest1WDR19 CL E G H5772818340ORPHA:474Jeune syndromeHP:0040281 - Very frequent95
HP:0005257HP:0000774Narrow chest1WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly.95
HP:0005257HP:0000774Narrow chest1WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent136
HP:0005257HP:0000774Narrow chest1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0005257HP:0000774Narrow chest1WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent136
HP:0005257HP:0000774Narrow chest1WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly136
HP:0005257HP:0000774Narrow chest1XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0005257HP:0000774Narrow chest1ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndromeHP:0040282 - Frequent17
HP:0005257HP:0000774Narrow chest1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome.17
HP:0005257HP:0000774Narrow chest1ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0005257HP:0000774Narrow chest1ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19


Genes (143) :ABCC9 ACTA1 ACTG2 ADAMTS3 AGRN ATP7A B3GAT3 B4GALT7 BCOR BMPER CANT1 CASR CCBE1 CCDC47 CEP120 CFAP410 CFL2 CHST3 CILK1 CLCN7 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 CREB3L1 CRTAP CSPP1 CTSK DCHS1 DDR2 DDRGK1 DLG3 DLK1 DNAJC21 DONSON DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EVC EVC2 FAM20C FAT4 FBN1 FGFR2 FGFR3 FLNA FLNB GAD1 GBA1 GLI1 GNE GNPTAB GPX4 HHAT HSD17B4 HSPG2 IFT122 IFT140 IFT172 IFT43 IFT52 IFT80 IFT81 IHH IL6ST INPPL1 INTU ITGA3 KAT6A KBTBD13 KCNJ8 KIAA0586 KIAA0753 KLHL41 KYNU LBR LMNA LMOD3 MATN3 MBTPS2 MED12 MEG3 MESD MTOR MUSK MYOD1 MYPN NAA10 NEB NEK1 NEK9 NEPRO ORC6 PAM16 PCGF2 PCNT PIGA PIGN PIK3C2A PLCB3 POLR3A POR PRKACA PRKACB PTH1R PUF60 RMRP RPS19 RTL1 RUNX2 SBDS SEC23A SERPINH1 SKI SLC10A7 SLC26A2 SLC35D1 SLC37A4 SLC9A6 SNRPB SNX10 SOX9 SRP54 TAPT1 TCIRG1 TCTN2 TMCO1 TNFSF11 TPM2 TPM3 TRIP11 TRPV4 TRPV6 TTC21B UPF3B WDR19 WDR35 XYLT1 ZBTB20 ZC4H2

Diseases (175) :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:608022 OMIM:251450 OMIM:239200 ORPHA:417 OMIM:618268 ORPHA:474 OMIM:616300 OMIM:602271 OMIM:612651 ORPHA:667 ORPHA:440354 ORPHA:2021 OMIM:228520 OMIM:614524 OMIM:166210 ORPHA:93296 ORPHA:85166 OMIM:151210 OMIM:616229 OMIM:610682 ORPHA:397715 ORPHA:763 OMIM:601390 OMIM:271665 ORPHA:93352 OMIM:300850 ORPHA:254534 ORPHA:254528 ORPHA:96334 OMIM:260400 OMIM:251230 OMIM:613091 ORPHA:93271 OMIM:615503 OMIM:615633 ORPHA:289 OMIM:617088 OMIM:617405 OMIM:225500 OMIM:259775 OMIM:615546 OMIM:616914 ORPHA:2462 OMIM:207410 OMIM:100800 ORPHA:15 ORPHA:1860 ORPHA:93274 OMIM:187600 OMIM:187601 OMIM:309350 ORPHA:2484 ORPHA:90652 OMIM:304120 ORPHA:1190 ORPHA:56305 OMIM:108720 ORPHA:1263 OMIM:619124 OMIM:608013 OMIM:269921 ORPHA:576 OMIM:250220 ORPHA:93317 ORPHA:1422 OMIM:600092 OMIM:261515 OMIM:224410 ORPHA:1865 OMIM:218330 ORPHA:1515 OMIM:266920 OMIM:615630 OMIM:614099 OMIM:617866 OMIM:617102 OMIM:611263 OMIM:617895 OMIM:607778 ORPHA:63446 OMIM:619751 OMIM:258480 ORPHA:2746 ORPHA:3144 OMIM:617925 OMIM:614748 OMIM:616268 OMIM:616546 OMIM:619479 OMIM:615731 OMIM:617661 ORPHA:1426 OMIM:215140 OMIM:618019 ORPHA:157973 OMIM:608728 ORPHA:156728 OMIM:308205 OMIM:300895 OMIM:618644 ORPHA:457485 OMIM:616638 OMIM:208150 OMIM:618975 OMIM:263520 OMIM:617022 OMIM:618853 OMIM:613803 OMIM:613320 OMIM:618371 OMIM:210720 OMIM:300868 ORPHA:2059 ORPHA:280633 OMIM:618440 OMIM:618961 OMIM:264090 ORPHA:95699 OMIM:619143 ORPHA:50945 ORPHA:508488 ORPHA:175 OMIM:250250 OMIM:105650 ORPHA:1452 OMIM:119600 OMIM:607812 ORPHA:50814 OMIM:613848 OMIM:618363 ORPHA:93298 OMIM:600972 ORPHA:56304 OMIM:256050 OMIM:269250 OMIM:619525 OMIM:300243 OMIM:117650 OMIM:114290 ORPHA:140 OMIM:616897 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.