Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of skeletal morphology (HP:0011842)help
Parent Node:
expand
Abnormal axial skeleton morphology (HP:0009121)help
..Starting node
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Abnormal thorax morphology (HP:0000765)help
Term ID: 765
Name: Abnormal thorax morphology
Synonym: Abnormality of the chest; Abnormality of the thorax; Structural abnormality of the chest wall
Definition: Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
Comments:
Reference: HP:0000765
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of the sternum (HP:0000766) help
................... HP:0000767 Pectus excavatum
................... HP:0000768 Pectus carinatum
................... HP:0000884 Prominent sternum
................... HP:0000893 Bulging of the costochondral junction
................... HP:0000897 Rachitic rosary
................... HP:0006637 Sternal punctate calcifications
................... HP:0006714 Aplasia/Hypoplasia of the sternum
................... HP:0010309 Bifid sternum
................... HP:0011863 Abnormal sternal ossification
................... HP:0100892 Abnormality of the xiphoid process
........expandAbnormality of the scapula (HP:0000782) help
................... HP:0000912 Sprengel anomaly
................... HP:0000918 Scapular exostoses
................... HP:0001474 Sclerotic scapulae
................... HP:0003691 Scapular winging
................... HP:0006595 Scapulohumeral synostosis
................... HP:0006650 Thickening of the lateral border of the scapula
................... HP:0006713 Aplasia/Hypoplasia of the scapulae
................... HP:0011912 Abnormality of the glenoid fossa
................... HP:0031233 Horizontal inferior border of scapula
........expandAbnormality of the clavicle (HP:0000889) help
................... HP:0000890 Long clavicles
................... HP:0000895 Lateral clavicle hook
................... HP:0000905 Progressive clavicular acroosteolysis
................... HP:0000916 Broad clavicles
................... HP:0006587 Straight clavicles
................... HP:0006599 Medial widening of clavicles
................... HP:0006645 Thin clavicles
................... HP:0006710 Aplasia/Hypoplasia of the clavicles
................... HP:0010560 Undulate clavicles
................... HP:0100923 Clavicular sclerosis
........expandAbnormality of the rib cage (HP:0001547) help
................... HP:0000772 Abnormality of the ribs
................... HP:0000886 Deformed rib cage
................... HP:0001555 Asymmetry of the thorax
................... HP:0001591 Bell-shaped thorax
................... HP:0005259 Abnormal facility in opposing the shoulders
................... HP:0006596 Restricted chest movement
................... HP:0006644 Thoracic dysplasia
................... HP:0100625 Enlarged thorax
........expandAbnormality of the shoulder (HP:0003043) help
................... HP:0003044 Shoulder flexion contracture
................... HP:0003834 Shoulder dislocation
................... HP:0003836 Stippled calcification of the shoulder
................... HP:0006467 Limited shoulder movement
................... HP:0006595 Scapulohumeral synostosis
................... HP:0006659 Internally rotated shoulders
................... HP:0009742 Stiff shoulders
................... HP:0011912 Abnormality of the glenoid fossa
................... HP:0030881 Shoulder impingement
................... HP:0200021 Down-sloping shoulders
........expandIntercostal muscle weakness (HP:0004878) help
........expandThoracic hypoplasia (HP:0005257) help
................... HP:0000774 Narrow chest
................... HP:0005254 Unilateral chest hypoplasia
................... HP:0006647 Congenital microthorax
........expandAplasia/Hypoplasia involving bones of the thorax (HP:0006711) help
................... HP:0006710 Aplasia/Hypoplasia of the clavicles
................... HP:0006712 Aplasia/Hypoplasia of the ribs
................... HP:0006713 Aplasia/Hypoplasia of the scapulae
................... HP:0006714 Aplasia/Hypoplasia of the sternum
........expandShort thorax (HP:0010306) help
........expandThoracoabdominal wall defect (HP:0100656) help
................... HP:0100657 Thoracoabdominal eventration
........expandAbnormality of the thoracic spine (HP:0100711) help
................... HP:0002942 Thoracic kyphosis
................... HP:0002943 Thoracic scoliosis
........expandChest pain (HP:0100749) help

 Sister Nodes: 
..expandAbnormal skull morphology (HP:0000929) help
..expandAbnormality of the vertebral column (HP:0000925) help
..expandAplasia/hypoplasia affecting bones of the axial skeleton (HP:0009122) help
..expandDisproportionate short-trunk short stature (HP:0003521) help
..expandSupernumerary bones of the axial skeleton (HP:0009144) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000765HP:0000765Abnormal thorax morphology0ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0000765Abnormal thorax morphology0ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0000765Abnormal thorax morphology0COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM113972197120150
HP:0000765HP:0000765Abnormal thorax morphology0COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM116552197120150
HP:0000765HP:0000765Abnormal thorax morphology0COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM110422198120160
HP:0000765HP:0000765Abnormal thorax morphology0COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM112032198120160
HP:0000765HP:0000765Abnormal thorax morphology0CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11632536601105
HP:0000765HP:0000765Abnormal thorax morphology0CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11862536601105
HP:0000765HP:0000765Abnormal thorax morphology0CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12372600613815
HP:0000765HP:0000765Abnormal thorax morphology0CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12502600613815
HP:0000765HP:0000765Abnormal thorax morphology0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0000765HP:0000765Abnormal thorax morphology0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0000765HP:0000765Abnormal thorax morphology0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000765HP:0000765Abnormal thorax morphology0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000765HP:0000765Abnormal thorax morphology0GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11694274121014
HP:0000765HP:0000765Abnormal thorax morphology0GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11914274121014
HP:0000765HP:0000765Abnormal thorax morphology0GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13014315603371
HP:0000765HP:0000765Abnormal thorax morphology0GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13284315603371
HP:0000765HP:0000765Abnormal thorax morphology0GNPTAB CL E G H79158576ORPHA173029670607840
HP:0000765HP:0000765Abnormal thorax morphology0GNPTAB CL E G H79158576ORPHA182829670607840
HP:0000765HP:0000765Abnormal thorax morphology0KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000765HP:0000765Abnormal thorax morphology0KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000765HP:0000765Abnormal thorax morphology0KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM126930372615340
HP:0000765HP:0000765Abnormal thorax morphology0KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM133930372615340
HP:0000765HP:0000765Abnormal thorax morphology0KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0000765HP:0000765Abnormal thorax morphology0KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0000765HP:0000765Abnormal thorax morphology0MAP2K2 CL E G H5605638ORPHA14526842601263
HP:0000765HP:0000765Abnormal thorax morphology0MAP2K2 CL E G H5605638ORPHA15156842601263
HP:0000765HP:0000765Abnormal thorax morphology0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000765HP:0000765Abnormal thorax morphology0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000765HP:0000765Abnormal thorax morphology0NEB CL E G H4703171433ORPHA146747720161650
HP:0000765HP:0000765Abnormal thorax morphology0NEB CL E G H4703171433ORPHA153137720161650
HP:0000765HP:0000765Abnormal thorax morphology0NF1 CL E G H4763638ORPHA180607765613113
HP:0000765HP:0000765Abnormal thorax morphology0NF1 CL E G H4763638ORPHA191517765613113
HP:0000765HP:0000765Abnormal thorax morphology0NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1147849156490
HP:0000765HP:0000765Abnormal thorax morphology0NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA18607883600276
HP:0000765HP:0000765Abnormal thorax morphology0NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA19467883600276
HP:0000765HP:0000765Abnormal thorax morphology0PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA12838804173410
HP:0000765HP:0000765Abnormal thorax morphology0PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA13048804173410
HP:0000765HP:0000765Abnormal thorax morphology0SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM13010778606570
HP:0000765HP:0000765Abnormal thorax morphology0SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM16010778606570
HP:0000765HP:0000765Abnormal thorax morphology0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0000765HP:0000765Abnormal thorax morphology0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0000765HP:0000765Abnormal thorax morphology0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM128510933604322
HP:0000765HP:0000765Abnormal thorax morphology0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM133510933604322
HP:0000765HP:0000765Abnormal thorax morphology0TPM3 CL E G H7170171433ORPHA126112012191030
HP:0000765HP:0000765Abnormal thorax morphology0TPM3 CL E G H7170171433ORPHA128312012191030
HP:0000765HP:0000765Abnormal thorax morphology0VDR CL E G H742193160ORPHA123912679601769
HP:0000765HP:0000765Abnormal thorax morphology0VDR CL E G H742193160ORPHA125612679601769
HP:0000765HP:0000765Abnormal thorax morphology0WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1194712791604611
HP:0000765HP:0000765Abnormal thorax morphology0WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1239112791604611
HP:0000765HP:0100656Thoracoabdominal wall defect1ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0100656Thoracoabdominal wall defect1ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0004878Intercostal muscle weakness1ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0004878Intercostal muscle weakness1ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0003043Abnormal shoulder morphology1ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0003043Abnormal shoulder morphology1ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0000889Abnormal clavicle morphology1ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0000889Abnormal clavicle morphology1ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0001547Abnormal rib cage morphology1ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0001547Abnormal rib cage morphology1ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0000782Abnormal scapula morphology1ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0000782Abnormal scapula morphology1ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0000766Abnormal sternum morphology1ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0000766Abnormal sternum morphology1ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0100711Abnormal thoracic spine morphology1ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0100711Abnormal thoracic spine morphology1ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0010306Short thorax1ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0010306Short thorax1ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0005257Thoracic hypoplasia1ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0005257Thoracic hypoplasia1ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0100656Thoracoabdominal wall defect1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM113972197120150
HP:0000765HP:0100656Thoracoabdominal wall defect1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM116552197120150
HP:0000765HP:0004878Intercostal muscle weakness1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM113972197120150
HP:0000765HP:0004878Intercostal muscle weakness1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM116552197120150
HP:0000765HP:0003043Abnormal shoulder morphology1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM113972197120150
HP:0000765HP:0003043Abnormal shoulder morphology1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM116552197120150
HP:0000765HP:0000889Abnormal clavicle morphology1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM113972197120150
HP:0000765HP:0000889Abnormal clavicle morphology1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM116552197120150
HP:0000765HP:0001547Abnormal rib cage morphology1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM113972197120150
HP:0000765HP:0001547Abnormal rib cage morphology1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM116552197120150
HP:0000765HP:0000782Abnormal scapula morphology1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM113972197120150
HP:0000765HP:0000782Abnormal scapula morphology1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM116552197120150
HP:0000765HP:0000766Abnormal sternum morphology1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM113972197120150
HP:0000765HP:0000766Abnormal sternum morphology1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM116552197120150
HP:0000765HP:0100711Abnormal thoracic spine morphology1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM113972197120150
HP:0000765HP:0100711Abnormal thoracic spine morphology1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM116552197120150
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM113972197120150
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM116552197120150
HP:0000765HP:0010306Short thorax1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM113972197120150
HP:0000765HP:0010306Short thorax1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM116552197120150
HP:0000765HP:0005257Thoracic hypoplasia1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM113972197120150
HP:0000765HP:0005257Thoracic hypoplasia1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM116552197120150
HP:0000765HP:0100656Thoracoabdominal wall defect1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM110422198120160
HP:0000765HP:0100656Thoracoabdominal wall defect1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM112032198120160
HP:0000765HP:0004878Intercostal muscle weakness1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM110422198120160
HP:0000765HP:0004878Intercostal muscle weakness1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM112032198120160
HP:0000765HP:0003043Abnormal shoulder morphology1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM110422198120160
HP:0000765HP:0003043Abnormal shoulder morphology1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM112032198120160
HP:0000765HP:0000889Abnormal clavicle morphology1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM110422198120160
HP:0000765HP:0000889Abnormal clavicle morphology1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM112032198120160
HP:0000765HP:0001547Abnormal rib cage morphology1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM110422198120160
HP:0000765HP:0001547Abnormal rib cage morphology1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM112032198120160
HP:0000765HP:0000782Abnormal scapula morphology1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM110422198120160
HP:0000765HP:0000782Abnormal scapula morphology1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM112032198120160
HP:0000765HP:0000766Abnormal sternum morphology1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM110422198120160
HP:0000765HP:0000766Abnormal sternum morphology1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM112032198120160
HP:0000765HP:0100711Abnormal thoracic spine morphology1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM110422198120160
HP:0000765HP:0100711Abnormal thoracic spine morphology1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM112032198120160
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM110422198120160
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM112032198120160
HP:0000765HP:0010306Short thorax1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM110422198120160
HP:0000765HP:0010306Short thorax1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM112032198120160
HP:0000765HP:0005257Thoracic hypoplasia1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM110422198120160
HP:0000765HP:0005257Thoracic hypoplasia1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM112032198120160
HP:0000765HP:0100656Thoracoabdominal wall defect1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11632536601105
HP:0000765HP:0100656Thoracoabdominal wall defect1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11862536601105
HP:0000765HP:0004878Intercostal muscle weakness1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11632536601105
HP:0000765HP:0004878Intercostal muscle weakness1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11862536601105
HP:0000765HP:0003043Abnormal shoulder morphology1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11632536601105
HP:0000765HP:0003043Abnormal shoulder morphology1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11862536601105
HP:0000765HP:0000889Abnormal clavicle morphology1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11632536601105
HP:0000765HP:0000889Abnormal clavicle morphology1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11862536601105
HP:0000765HP:0001547Abnormal rib cage morphology1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11632536601105
HP:0000765HP:0001547Abnormal rib cage morphology1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11862536601105
HP:0000765HP:0000782Abnormal scapula morphology1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11632536601105
HP:0000765HP:0000782Abnormal scapula morphology1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11862536601105
HP:0000765HP:0000766Abnormal sternum morphology1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11632536601105
HP:0000765HP:0000766Abnormal sternum morphology1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11862536601105
HP:0000765HP:0100711Abnormal thoracic spine morphology1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11632536601105
HP:0000765HP:0100711Abnormal thoracic spine morphology1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11862536601105
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11632536601105
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11862536601105
HP:0000765HP:0010306Short thorax1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11632536601105
HP:0000765HP:0010306Short thorax1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11862536601105
HP:0000765HP:0005257Thoracic hypoplasia1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11632536601105
HP:0000765HP:0005257Thoracic hypoplasia1CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11862536601105
HP:0000765HP:0100656Thoracoabdominal wall defect1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12372600613815
HP:0000765HP:0100656Thoracoabdominal wall defect1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12502600613815
HP:0000765HP:0004878Intercostal muscle weakness1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12372600613815
HP:0000765HP:0004878Intercostal muscle weakness1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12502600613815
HP:0000765HP:0003043Abnormal shoulder morphology1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12372600613815
HP:0000765HP:0003043Abnormal shoulder morphology1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12502600613815
HP:0000765HP:0000889Abnormal clavicle morphology1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12372600613815
HP:0000765HP:0000889Abnormal clavicle morphology1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12502600613815
HP:0000765HP:0001547Abnormal rib cage morphology1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12372600613815
HP:0000765HP:0001547Abnormal rib cage morphology1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12502600613815
HP:0000765HP:0000782Abnormal scapula morphology1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12372600613815
HP:0000765HP:0000782Abnormal scapula morphology1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12502600613815
HP:0000765HP:0000766Abnormal sternum morphology1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12372600613815
HP:0000765HP:0000766Abnormal sternum morphology1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12502600613815
HP:0000765HP:0100711Abnormal thoracic spine morphology1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12372600613815
HP:0000765HP:0100711Abnormal thoracic spine morphology1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12502600613815
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12372600613815
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12502600613815
HP:0000765HP:0010306Short thorax1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12372600613815
HP:0000765HP:0010306Short thorax1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12502600613815
HP:0000765HP:0005257Thoracic hypoplasia1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12372600613815
HP:0000765HP:0005257Thoracic hypoplasia1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12502600613815
HP:0000765HP:0100656Thoracoabdominal wall defect1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0000765HP:0100656Thoracoabdominal wall defect1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0000765HP:0004878Intercostal muscle weakness1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0000765HP:0004878Intercostal muscle weakness1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0000765HP:0003043Abnormal shoulder morphology1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0000765HP:0003043Abnormal shoulder morphology1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0000765HP:0000889Abnormal clavicle morphology1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0000765HP:0000889Abnormal clavicle morphology1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0000765HP:0001547Abnormal rib cage morphology1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0000765HP:0001547Abnormal rib cage morphology1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0000765HP:0000782Abnormal scapula morphology1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0000765HP:0000782Abnormal scapula morphology1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0000765HP:0000766Abnormal sternum morphology1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0000765HP:0000766Abnormal sternum morphology1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0000765HP:0100711Abnormal thoracic spine morphology1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0000765HP:0100711Abnormal thoracic spine morphology1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0000765HP:0010306Short thorax1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0000765HP:0010306Short thorax1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0000765HP:0005257Thoracic hypoplasia1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0000765HP:0005257Thoracic hypoplasia1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0000765HP:0100656Thoracoabdominal wall defect1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000765HP:0100656Thoracoabdominal wall defect1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000765HP:0004878Intercostal muscle weakness1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000765HP:0004878Intercostal muscle weakness1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000765HP:0003043Abnormal shoulder morphology1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000765HP:0003043Abnormal shoulder morphology1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000765HP:0000889Abnormal clavicle morphology1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000765HP:0000889Abnormal clavicle morphology1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000765HP:0001547Abnormal rib cage morphology1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000765HP:0001547Abnormal rib cage morphology1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000765HP:0000782Abnormal scapula morphology1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000765HP:0000782Abnormal scapula morphology1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000765HP:0000766Abnormal sternum morphology1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000765HP:0000766Abnormal sternum morphology1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000765HP:0100711Abnormal thoracic spine morphology1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000765HP:0100711Abnormal thoracic spine morphology1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000765HP:0010306Short thorax1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000765HP:0010306Short thorax1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000765HP:0005257Thoracic hypoplasia1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000765HP:0005257Thoracic hypoplasia1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000765HP:0100656Thoracoabdominal wall defect1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11694274121014
HP:0000765HP:0100656Thoracoabdominal wall defect1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11914274121014
HP:0000765HP:0004878Intercostal muscle weakness1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11694274121014
HP:0000765HP:0004878Intercostal muscle weakness1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11914274121014
HP:0000765HP:0003043Abnormal shoulder morphology1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11694274121014
HP:0000765HP:0003043Abnormal shoulder morphology1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11914274121014
HP:0000765HP:0000889Abnormal clavicle morphology1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11694274121014
HP:0000765HP:0000889Abnormal clavicle morphology1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11914274121014
HP:0000765HP:0001547Abnormal rib cage morphology1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11694274121014
HP:0000765HP:0001547Abnormal rib cage morphology1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11914274121014
HP:0000765HP:0000782Abnormal scapula morphology1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11694274121014
HP:0000765HP:0000782Abnormal scapula morphology1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11914274121014
HP:0000765HP:0000766Abnormal sternum morphology1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11694274121014
HP:0000765HP:0000766Abnormal sternum morphology1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11914274121014
HP:0000765HP:0100711Abnormal thoracic spine morphology1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11694274121014
HP:0000765HP:0100711Abnormal thoracic spine morphology1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11914274121014
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11694274121014
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11914274121014
HP:0000765HP:0010306Short thorax1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11694274121014
HP:0000765HP:0010306Short thorax1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11914274121014
HP:0000765HP:0005257Thoracic hypoplasia1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11694274121014
HP:0000765HP:0005257Thoracic hypoplasia1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11914274121014
HP:0000765HP:0100656Thoracoabdominal wall defect1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13014315603371
HP:0000765HP:0100656Thoracoabdominal wall defect1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13284315603371
HP:0000765HP:0004878Intercostal muscle weakness1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13014315603371
HP:0000765HP:0004878Intercostal muscle weakness1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13284315603371
HP:0000765HP:0003043Abnormal shoulder morphology1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13014315603371
HP:0000765HP:0003043Abnormal shoulder morphology1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13284315603371
HP:0000765HP:0000889Abnormal clavicle morphology1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13014315603371
HP:0000765HP:0000889Abnormal clavicle morphology1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13284315603371
HP:0000765HP:0001547Abnormal rib cage morphology1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13014315603371
HP:0000765HP:0001547Abnormal rib cage morphology1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13284315603371
HP:0000765HP:0000782Abnormal scapula morphology1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13014315603371
HP:0000765HP:0000782Abnormal scapula morphology1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13284315603371
HP:0000765HP:0000766Abnormal sternum morphology1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13014315603371
HP:0000765HP:0000766Abnormal sternum morphology1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13284315603371
HP:0000765HP:0100711Abnormal thoracic spine morphology1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13014315603371
HP:0000765HP:0100711Abnormal thoracic spine morphology1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13284315603371
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13014315603371
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13284315603371
HP:0000765HP:0010306Short thorax1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13014315603371
HP:0000765HP:0010306Short thorax1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13284315603371
HP:0000765HP:0005257Thoracic hypoplasia1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13014315603371
HP:0000765HP:0005257Thoracic hypoplasia1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13284315603371
HP:0000765HP:0100656Thoracoabdominal wall defect1GNPTAB CL E G H79158576ORPHA173029670607840
HP:0000765HP:0100656Thoracoabdominal wall defect1GNPTAB CL E G H79158576ORPHA182829670607840
HP:0000765HP:0004878Intercostal muscle weakness1GNPTAB CL E G H79158576ORPHA173029670607840
HP:0000765HP:0004878Intercostal muscle weakness1GNPTAB CL E G H79158576ORPHA182829670607840
HP:0000765HP:0003043Abnormal shoulder morphology1GNPTAB CL E G H79158576ORPHA173029670607840
HP:0000765HP:0003043Abnormal shoulder morphology1GNPTAB CL E G H79158576ORPHA182829670607840
HP:0000765HP:0000889Abnormal clavicle morphology1GNPTAB CL E G H79158576ORPHA173029670607840
HP:0000765HP:0000889Abnormal clavicle morphology1GNPTAB CL E G H79158576ORPHA182829670607840
HP:0000765HP:0001547Abnormal rib cage morphology1GNPTAB CL E G H79158576ORPHA173029670607840
HP:0000765HP:0001547Abnormal rib cage morphology1GNPTAB CL E G H79158576ORPHA182829670607840
HP:0000765HP:0000782Abnormal scapula morphology1GNPTAB CL E G H79158576ORPHA173029670607840
HP:0000765HP:0000782Abnormal scapula morphology1GNPTAB CL E G H79158576ORPHA182829670607840
HP:0000765HP:0000766Abnormal sternum morphology1GNPTAB CL E G H79158576ORPHA173029670607840
HP:0000765HP:0000766Abnormal sternum morphology1GNPTAB CL E G H79158576ORPHA182829670607840
HP:0000765HP:0100711Abnormal thoracic spine morphology1GNPTAB CL E G H79158576ORPHA173029670607840
HP:0000765HP:0100711Abnormal thoracic spine morphology1GNPTAB CL E G H79158576ORPHA182829670607840
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1GNPTAB CL E G H79158576ORPHA173029670607840
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1GNPTAB CL E G H79158576ORPHA182829670607840
HP:0000765HP:0010306Short thorax1GNPTAB CL E G H79158576ORPHA173029670607840
HP:0000765HP:0010306Short thorax1GNPTAB CL E G H79158576ORPHA182829670607840
HP:0000765HP:0005257Thoracic hypoplasia1GNPTAB CL E G H79158576ORPHA173029670607840
HP:0000765HP:0005257Thoracic hypoplasia1GNPTAB CL E G H79158576ORPHA182829670607840
HP:0000765HP:0100656Thoracoabdominal wall defect1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000765HP:0100656Thoracoabdominal wall defect1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000765HP:0004878Intercostal muscle weakness1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000765HP:0004878Intercostal muscle weakness1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000765HP:0003043Abnormal shoulder morphology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000765HP:0003043Abnormal shoulder morphology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000765HP:0000889Abnormal clavicle morphology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000765HP:0000889Abnormal clavicle morphology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000765HP:0001547Abnormal rib cage morphology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000765HP:0001547Abnormal rib cage morphology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000765HP:0000782Abnormal scapula morphology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000765HP:0000782Abnormal scapula morphology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000765HP:0000766Abnormal sternum morphology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000765HP:0000766Abnormal sternum morphology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000765HP:0100711Abnormal thoracic spine morphology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000765HP:0100711Abnormal thoracic spine morphology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000765HP:0010306Short thorax1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000765HP:0010306Short thorax1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000765HP:0005257Thoracic hypoplasia1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000765HP:0005257Thoracic hypoplasia1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000765HP:0100656Thoracoabdominal wall defect1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM126930372615340
HP:0000765HP:0100656Thoracoabdominal wall defect1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM133930372615340
HP:0000765HP:0004878Intercostal muscle weakness1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM126930372615340
HP:0000765HP:0004878Intercostal muscle weakness1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM133930372615340
HP:0000765HP:0003043Abnormal shoulder morphology1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM126930372615340
HP:0000765HP:0003043Abnormal shoulder morphology1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM133930372615340
HP:0000765HP:0000889Abnormal clavicle morphology1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM126930372615340
HP:0000765HP:0000889Abnormal clavicle morphology1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM133930372615340
HP:0000765HP:0001547Abnormal rib cage morphology1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM126930372615340
HP:0000765HP:0001547Abnormal rib cage morphology1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM133930372615340
HP:0000765HP:0000782Abnormal scapula morphology1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM126930372615340
HP:0000765HP:0000782Abnormal scapula morphology1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM133930372615340
HP:0000765HP:0000766Abnormal sternum morphology1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM126930372615340
HP:0000765HP:0000766Abnormal sternum morphology1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM133930372615340
HP:0000765HP:0100711Abnormal thoracic spine morphology1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM126930372615340
HP:0000765HP:0100711Abnormal thoracic spine morphology1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM133930372615340
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM126930372615340
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM133930372615340
HP:0000765HP:0010306Short thorax1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM126930372615340
HP:0000765HP:0010306Short thorax1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM133930372615340
HP:0000765HP:0005257Thoracic hypoplasia1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM126930372615340
HP:0000765HP:0005257Thoracic hypoplasia1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM133930372615340
HP:0000765HP:0100656Thoracoabdominal wall defect1KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0000765HP:0100656Thoracoabdominal wall defect1KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0000765HP:0004878Intercostal muscle weakness1KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0000765HP:0004878Intercostal muscle weakness1KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0000765HP:0003043Abnormal shoulder morphology1KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0000765HP:0003043Abnormal shoulder morphology1KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0000765HP:0000889Abnormal clavicle morphology1KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0000765HP:0000889Abnormal clavicle morphology1KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0000765HP:0001547Abnormal rib cage morphology1KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0000765HP:0001547Abnormal rib cage morphology1KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0000765HP:0000782Abnormal scapula morphology1KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0000765HP:0000782Abnormal scapula morphology1KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0000765HP:0000766Abnormal sternum morphology1KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0000765HP:0000766Abnormal sternum morphology1KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0000765HP:0100711Abnormal thoracic spine morphology1KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0000765HP:0100711Abnormal thoracic spine morphology1KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0000765HP:0010306Short thorax1KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0000765HP:0010306Short thorax1KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0000765HP:0005257Thoracic hypoplasia1KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0000765HP:0005257Thoracic hypoplasia1KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0000765HP:0100656Thoracoabdominal wall defect1MAP2K2 CL E G H5605638ORPHA14526842601263
HP:0000765HP:0100656Thoracoabdominal wall defect1MAP2K2 CL E G H5605638ORPHA15156842601263
HP:0000765HP:0004878Intercostal muscle weakness1MAP2K2 CL E G H5605638ORPHA14526842601263
HP:0000765HP:0004878Intercostal muscle weakness1MAP2K2 CL E G H5605638ORPHA15156842601263
HP:0000765HP:0003043Abnormal shoulder morphology1MAP2K2 CL E G H5605638ORPHA14526842601263
HP:0000765HP:0003043Abnormal shoulder morphology1MAP2K2 CL E G H5605638ORPHA15156842601263
HP:0000765HP:0000889Abnormal clavicle morphology1MAP2K2 CL E G H5605638ORPHA14526842601263
HP:0000765HP:0000889Abnormal clavicle morphology1MAP2K2 CL E G H5605638ORPHA15156842601263
HP:0000765HP:0001547Abnormal rib cage morphology1MAP2K2 CL E G H5605638ORPHA14526842601263
HP:0000765HP:0001547Abnormal rib cage morphology1MAP2K2 CL E G H5605638ORPHA15156842601263
HP:0000765HP:0000782Abnormal scapula morphology1MAP2K2 CL E G H5605638ORPHA14526842601263
HP:0000765HP:0000782Abnormal scapula morphology1MAP2K2 CL E G H5605638ORPHA15156842601263
HP:0000765HP:0000766Abnormal sternum morphology1MAP2K2 CL E G H5605638ORPHA14526842601263
HP:0000765HP:0000766Abnormal sternum morphology1MAP2K2 CL E G H5605638ORPHA15156842601263
HP:0000765HP:0100711Abnormal thoracic spine morphology1MAP2K2 CL E G H5605638ORPHA14526842601263
HP:0000765HP:0100711Abnormal thoracic spine morphology1MAP2K2 CL E G H5605638ORPHA15156842601263
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1MAP2K2 CL E G H5605638ORPHA14526842601263
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1MAP2K2 CL E G H5605638ORPHA15156842601263
HP:0000765HP:0010306Short thorax1MAP2K2 CL E G H5605638ORPHA14526842601263
HP:0000765HP:0010306Short thorax1MAP2K2 CL E G H5605638ORPHA15156842601263
HP:0000765HP:0005257Thoracic hypoplasia1MAP2K2 CL E G H5605638ORPHA14526842601263
HP:0000765HP:0005257Thoracic hypoplasia1MAP2K2 CL E G H5605638ORPHA15156842601263
HP:0000765HP:0100656Thoracoabdominal wall defect1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000765HP:0100656Thoracoabdominal wall defect1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000765HP:0004878Intercostal muscle weakness1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000765HP:0004878Intercostal muscle weakness1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000765HP:0003043Abnormal shoulder morphology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000765HP:0003043Abnormal shoulder morphology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000765HP:0000889Abnormal clavicle morphology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000765HP:0000889Abnormal clavicle morphology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000765HP:0001547Abnormal rib cage morphology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000765HP:0001547Abnormal rib cage morphology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000765HP:0000782Abnormal scapula morphology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000765HP:0000782Abnormal scapula morphology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000765HP:0000766Abnormal sternum morphology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000765HP:0000766Abnormal sternum morphology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000765HP:0100711Abnormal thoracic spine morphology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000765HP:0100711Abnormal thoracic spine morphology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000765HP:0010306Short thorax1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000765HP:0010306Short thorax1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000765HP:0005257Thoracic hypoplasia1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000765HP:0005257Thoracic hypoplasia1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000765HP:0100656Thoracoabdominal wall defect1NEB CL E G H4703171433ORPHA146747720161650
HP:0000765HP:0100656Thoracoabdominal wall defect1NEB CL E G H4703171433ORPHA153137720161650
HP:0000765HP:0004878Intercostal muscle weakness1NEB CL E G H4703171433ORPHA146747720161650
HP:0000765HP:0004878Intercostal muscle weakness1NEB CL E G H4703171433ORPHA153137720161650
HP:0000765HP:0003043Abnormal shoulder morphology1NEB CL E G H4703171433ORPHA146747720161650
HP:0000765HP:0003043Abnormal shoulder morphology1NEB CL E G H4703171433ORPHA153137720161650
HP:0000765HP:0000889Abnormal clavicle morphology1NEB CL E G H4703171433ORPHA146747720161650
HP:0000765HP:0000889Abnormal clavicle morphology1NEB CL E G H4703171433ORPHA153137720161650
HP:0000765HP:0001547Abnormal rib cage morphology1NEB CL E G H4703171433ORPHA146747720161650
HP:0000765HP:0001547Abnormal rib cage morphology1NEB CL E G H4703171433ORPHA153137720161650
HP:0000765HP:0000782Abnormal scapula morphology1NEB CL E G H4703171433ORPHA146747720161650
HP:0000765HP:0000782Abnormal scapula morphology1NEB CL E G H4703171433ORPHA153137720161650
HP:0000765HP:0000766Abnormal sternum morphology1NEB CL E G H4703171433ORPHA146747720161650
HP:0000765HP:0000766Abnormal sternum morphology1NEB CL E G H4703171433ORPHA153137720161650
HP:0000765HP:0100711Abnormal thoracic spine morphology1NEB CL E G H4703171433ORPHA146747720161650
HP:0000765HP:0100711Abnormal thoracic spine morphology1NEB CL E G H4703171433ORPHA153137720161650
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1NEB CL E G H4703171433ORPHA146747720161650
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1NEB CL E G H4703171433ORPHA153137720161650
HP:0000765HP:0010306Short thorax1NEB CL E G H4703171433ORPHA146747720161650
HP:0000765HP:0010306Short thorax1NEB CL E G H4703171433ORPHA153137720161650
HP:0000765HP:0005257Thoracic hypoplasia1NEB CL E G H4703171433ORPHA146747720161650
HP:0000765HP:0005257Thoracic hypoplasia1NEB CL E G H4703171433ORPHA153137720161650
HP:0000765HP:0100656Thoracoabdominal wall defect1NF1 CL E G H4763638ORPHA180607765613113
HP:0000765HP:0100656Thoracoabdominal wall defect1NF1 CL E G H4763638ORPHA191517765613113
HP:0000765HP:0004878Intercostal muscle weakness1NF1 CL E G H4763638ORPHA180607765613113
HP:0000765HP:0004878Intercostal muscle weakness1NF1 CL E G H4763638ORPHA191517765613113
HP:0000765HP:0003043Abnormal shoulder morphology1NF1 CL E G H4763638ORPHA180607765613113
HP:0000765HP:0003043Abnormal shoulder morphology1NF1 CL E G H4763638ORPHA191517765613113
HP:0000765HP:0000889Abnormal clavicle morphology1NF1 CL E G H4763638ORPHA180607765613113
HP:0000765HP:0000889Abnormal clavicle morphology1NF1 CL E G H4763638ORPHA191517765613113
HP:0000765HP:0001547Abnormal rib cage morphology1NF1 CL E G H4763638ORPHA180607765613113
HP:0000765HP:0001547Abnormal rib cage morphology1NF1 CL E G H4763638ORPHA191517765613113
HP:0000765HP:0000782Abnormal scapula morphology1NF1 CL E G H4763638ORPHA180607765613113
HP:0000765HP:0000782Abnormal scapula morphology1NF1 CL E G H4763638ORPHA191517765613113
HP:0000765HP:0000766Abnormal sternum morphology1NF1 CL E G H4763638ORPHA180607765613113
HP:0000765HP:0000766Abnormal sternum morphology1NF1 CL E G H4763638ORPHA191517765613113
HP:0000765HP:0100711Abnormal thoracic spine morphology1NF1 CL E G H4763638ORPHA180607765613113
HP:0000765HP:0100711Abnormal thoracic spine morphology1NF1 CL E G H4763638ORPHA191517765613113
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1NF1 CL E G H4763638ORPHA180607765613113
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1NF1 CL E G H4763638ORPHA191517765613113
HP:0000765HP:0010306Short thorax1NF1 CL E G H4763638ORPHA180607765613113
HP:0000765HP:0010306Short thorax1NF1 CL E G H4763638ORPHA191517765613113
HP:0000765HP:0005257Thoracic hypoplasia1NF1 CL E G H4763638ORPHA180607765613113
HP:0000765HP:0005257Thoracic hypoplasia1NF1 CL E G H4763638ORPHA191517765613113
HP:0000765HP:0100656Thoracoabdominal wall defect1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1147849156490
HP:0000765HP:0004878Intercostal muscle weakness1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1147849156490
HP:0000765HP:0003043Abnormal shoulder morphology1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1147849156490
HP:0000765HP:0000889Abnormal clavicle morphology1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1147849156490
HP:0000765HP:0001547Abnormal rib cage morphology1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1147849156490
HP:0000765HP:0000782Abnormal scapula morphology1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1147849156490
HP:0000765HP:0000766Abnormal sternum morphology1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1147849156490
HP:0000765HP:0100711Abnormal thoracic spine morphology1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1147849156490
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1147849156490
HP:0000765HP:0010306Short thorax1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1147849156490
HP:0000765HP:0005257Thoracic hypoplasia1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1147849156490
HP:0000765HP:0100656Thoracoabdominal wall defect1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA18607883600276
HP:0000765HP:0100656Thoracoabdominal wall defect1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA19467883600276
HP:0000765HP:0004878Intercostal muscle weakness1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA18607883600276
HP:0000765HP:0004878Intercostal muscle weakness1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA19467883600276
HP:0000765HP:0003043Abnormal shoulder morphology1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA18607883600276
HP:0000765HP:0003043Abnormal shoulder morphology1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA19467883600276
HP:0000765HP:0000889Abnormal clavicle morphology1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA18607883600276
HP:0000765HP:0000889Abnormal clavicle morphology1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA19467883600276
HP:0000765HP:0001547Abnormal rib cage morphology1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA18607883600276
HP:0000765HP:0001547Abnormal rib cage morphology1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA19467883600276
HP:0000765HP:0000782Abnormal scapula morphology1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA18607883600276
HP:0000765HP:0000782Abnormal scapula morphology1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA19467883600276
HP:0000765HP:0000766Abnormal sternum morphology1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA18607883600276
HP:0000765HP:0000766Abnormal sternum morphology1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA19467883600276
HP:0000765HP:0100711Abnormal thoracic spine morphology1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA18607883600276
HP:0000765HP:0100711Abnormal thoracic spine morphology1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA19467883600276
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA18607883600276
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA19467883600276
HP:0000765HP:0010306Short thorax1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA18607883600276
HP:0000765HP:0010306Short thorax1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA19467883600276
HP:0000765HP:0005257Thoracic hypoplasia1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA18607883600276
HP:0000765HP:0005257Thoracic hypoplasia1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA19467883600276
HP:0000765HP:0100656Thoracoabdominal wall defect1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA12838804173410
HP:0000765HP:0100656Thoracoabdominal wall defect1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA13048804173410
HP:0000765HP:0004878Intercostal muscle weakness1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA12838804173410
HP:0000765HP:0004878Intercostal muscle weakness1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA13048804173410
HP:0000765HP:0003043Abnormal shoulder morphology1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA12838804173410
HP:0000765HP:0003043Abnormal shoulder morphology1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA13048804173410
HP:0000765HP:0000889Abnormal clavicle morphology1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA12838804173410
HP:0000765HP:0000889Abnormal clavicle morphology1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA13048804173410
HP:0000765HP:0001547Abnormal rib cage morphology1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA12838804173410
HP:0000765HP:0001547Abnormal rib cage morphology1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA13048804173410
HP:0000765HP:0000782Abnormal scapula morphology1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA12838804173410
HP:0000765HP:0000782Abnormal scapula morphology1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA13048804173410
HP:0000765HP:0000766Abnormal sternum morphology1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA12838804173410
HP:0000765HP:0000766Abnormal sternum morphology1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA13048804173410
HP:0000765HP:0100711Abnormal thoracic spine morphology1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA12838804173410
HP:0000765HP:0100711Abnormal thoracic spine morphology1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA13048804173410
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA12838804173410
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA13048804173410
HP:0000765HP:0010306Short thorax1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA12838804173410
HP:0000765HP:0010306Short thorax1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA13048804173410
HP:0000765HP:0005257Thoracic hypoplasia1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA12838804173410
HP:0000765HP:0005257Thoracic hypoplasia1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA13048804173410
HP:0000765HP:0100656Thoracoabdominal wall defect1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM13010778606570
HP:0000765HP:0100656Thoracoabdominal wall defect1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM16010778606570
HP:0000765HP:0004878Intercostal muscle weakness1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM13010778606570
HP:0000765HP:0004878Intercostal muscle weakness1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM16010778606570
HP:0000765HP:0003043Abnormal shoulder morphology1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM13010778606570
HP:0000765HP:0003043Abnormal shoulder morphology1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM16010778606570
HP:0000765HP:0000889Abnormal clavicle morphology1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM13010778606570
HP:0000765HP:0000889Abnormal clavicle morphology1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM16010778606570
HP:0000765HP:0001547Abnormal rib cage morphology1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM13010778606570
HP:0000765HP:0001547Abnormal rib cage morphology1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM16010778606570
HP:0000765HP:0000782Abnormal scapula morphology1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM13010778606570
HP:0000765HP:0000782Abnormal scapula morphology1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM16010778606570
HP:0000765HP:0000766Abnormal sternum morphology1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM13010778606570
HP:0000765HP:0000766Abnormal sternum morphology1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM16010778606570
HP:0000765HP:0100711Abnormal thoracic spine morphology1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM13010778606570
HP:0000765HP:0100711Abnormal thoracic spine morphology1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM16010778606570
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM13010778606570
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM16010778606570
HP:0000765HP:0010306Short thorax1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM13010778606570
HP:0000765HP:0010306Short thorax1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM16010778606570
HP:0000765HP:0005257Thoracic hypoplasia1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM13010778606570
HP:0000765HP:0005257Thoracic hypoplasia1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM16010778606570
HP:0000765HP:0100656Thoracoabdominal wall defect1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0000765HP:0100656Thoracoabdominal wall defect1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0000765HP:0004878Intercostal muscle weakness1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0000765HP:0004878Intercostal muscle weakness1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0000765HP:0003043Abnormal shoulder morphology1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0000765HP:0003043Abnormal shoulder morphology1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0000765HP:0000889Abnormal clavicle morphology1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0000765HP:0000889Abnormal clavicle morphology1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0000765HP:0001547Abnormal rib cage morphology1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0000765HP:0001547Abnormal rib cage morphology1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0000765HP:0000782Abnormal scapula morphology1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0000765HP:0000782Abnormal scapula morphology1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0000765HP:0000766Abnormal sternum morphology1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0000765HP:0000766Abnormal sternum morphology1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0000765HP:0100711Abnormal thoracic spine morphology1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0000765HP:0100711Abnormal thoracic spine morphology1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0000765HP:0010306Short thorax1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0000765HP:0010306Short thorax1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0000765HP:0005257Thoracic hypoplasia1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0000765HP:0005257Thoracic hypoplasia1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0000765HP:0100656Thoracoabdominal wall defect1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM128510933604322
HP:0000765HP:0100656Thoracoabdominal wall defect1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM133510933604322
HP:0000765HP:0004878Intercostal muscle weakness1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM128510933604322
HP:0000765HP:0004878Intercostal muscle weakness1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM133510933604322
HP:0000765HP:0003043Abnormal shoulder morphology1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM128510933604322
HP:0000765HP:0003043Abnormal shoulder morphology1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM133510933604322
HP:0000765HP:0000889Abnormal clavicle morphology1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM128510933604322
HP:0000765HP:0000889Abnormal clavicle morphology1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM133510933604322
HP:0000765HP:0001547Abnormal rib cage morphology1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM128510933604322
HP:0000765HP:0001547Abnormal rib cage morphology1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM133510933604322
HP:0000765HP:0000782Abnormal scapula morphology1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM128510933604322
HP:0000765HP:0000782Abnormal scapula morphology1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM133510933604322
HP:0000765HP:0000766Abnormal sternum morphology1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM128510933604322
HP:0000765HP:0000766Abnormal sternum morphology1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM133510933604322
HP:0000765HP:0100711Abnormal thoracic spine morphology1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM128510933604322
HP:0000765HP:0100711Abnormal thoracic spine morphology1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM133510933604322
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM128510933604322
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM133510933604322
HP:0000765HP:0010306Short thorax1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM128510933604322
HP:0000765HP:0010306Short thorax1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM133510933604322
HP:0000765HP:0005257Thoracic hypoplasia1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM128510933604322
HP:0000765HP:0005257Thoracic hypoplasia1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM133510933604322
HP:0000765HP:0100656Thoracoabdominal wall defect1TPM3 CL E G H7170171433ORPHA126112012191030
HP:0000765HP:0100656Thoracoabdominal wall defect1TPM3 CL E G H7170171433ORPHA128312012191030
HP:0000765HP:0004878Intercostal muscle weakness1TPM3 CL E G H7170171433ORPHA126112012191030
HP:0000765HP:0004878Intercostal muscle weakness1TPM3 CL E G H7170171433ORPHA128312012191030
HP:0000765HP:0003043Abnormal shoulder morphology1TPM3 CL E G H7170171433ORPHA126112012191030
HP:0000765HP:0003043Abnormal shoulder morphology1TPM3 CL E G H7170171433ORPHA128312012191030
HP:0000765HP:0000889Abnormal clavicle morphology1TPM3 CL E G H7170171433ORPHA126112012191030
HP:0000765HP:0000889Abnormal clavicle morphology1TPM3 CL E G H7170171433ORPHA128312012191030
HP:0000765HP:0001547Abnormal rib cage morphology1TPM3 CL E G H7170171433ORPHA126112012191030
HP:0000765HP:0001547Abnormal rib cage morphology1TPM3 CL E G H7170171433ORPHA128312012191030
HP:0000765HP:0000782Abnormal scapula morphology1TPM3 CL E G H7170171433ORPHA126112012191030
HP:0000765HP:0000782Abnormal scapula morphology1TPM3 CL E G H7170171433ORPHA128312012191030
HP:0000765HP:0000766Abnormal sternum morphology1TPM3 CL E G H7170171433ORPHA126112012191030
HP:0000765HP:0000766Abnormal sternum morphology1TPM3 CL E G H7170171433ORPHA128312012191030
HP:0000765HP:0100711Abnormal thoracic spine morphology1TPM3 CL E G H7170171433ORPHA126112012191030
HP:0000765HP:0100711Abnormal thoracic spine morphology1TPM3 CL E G H7170171433ORPHA128312012191030
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1TPM3 CL E G H7170171433ORPHA126112012191030
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1TPM3 CL E G H7170171433ORPHA128312012191030
HP:0000765HP:0010306Short thorax1TPM3 CL E G H7170171433ORPHA126112012191030
HP:0000765HP:0010306Short thorax1TPM3 CL E G H7170171433ORPHA128312012191030
HP:0000765HP:0005257Thoracic hypoplasia1TPM3 CL E G H7170171433ORPHA126112012191030
HP:0000765HP:0005257Thoracic hypoplasia1TPM3 CL E G H7170171433ORPHA128312012191030
HP:0000765HP:0100656Thoracoabdominal wall defect1VDR CL E G H742193160ORPHA123912679601769
HP:0000765HP:0100656Thoracoabdominal wall defect1VDR CL E G H742193160ORPHA125612679601769
HP:0000765HP:0004878Intercostal muscle weakness1VDR CL E G H742193160ORPHA123912679601769
HP:0000765HP:0004878Intercostal muscle weakness1VDR CL E G H742193160ORPHA125612679601769
HP:0000765HP:0003043Abnormal shoulder morphology1VDR CL E G H742193160ORPHA123912679601769
HP:0000765HP:0003043Abnormal shoulder morphology1VDR CL E G H742193160ORPHA125612679601769
HP:0000765HP:0000889Abnormal clavicle morphology1VDR CL E G H742193160ORPHA123912679601769
HP:0000765HP:0000889Abnormal clavicle morphology1VDR CL E G H742193160ORPHA125612679601769
HP:0000765HP:0001547Abnormal rib cage morphology1VDR CL E G H742193160ORPHA123912679601769
HP:0000765HP:0001547Abnormal rib cage morphology1VDR CL E G H742193160ORPHA125612679601769
HP:0000765HP:0000782Abnormal scapula morphology1VDR CL E G H742193160ORPHA123912679601769
HP:0000765HP:0000782Abnormal scapula morphology1VDR CL E G H742193160ORPHA125612679601769
HP:0000765HP:0000766Abnormal sternum morphology1VDR CL E G H742193160ORPHA123912679601769
HP:0000765HP:0000766Abnormal sternum morphology1VDR CL E G H742193160ORPHA125612679601769
HP:0000765HP:0100711Abnormal thoracic spine morphology1VDR CL E G H742193160ORPHA123912679601769
HP:0000765HP:0100711Abnormal thoracic spine morphology1VDR CL E G H742193160ORPHA125612679601769
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1VDR CL E G H742193160ORPHA123912679601769
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1VDR CL E G H742193160ORPHA125612679601769
HP:0000765HP:0010306Short thorax1VDR CL E G H742193160ORPHA123912679601769
HP:0000765HP:0010306Short thorax1VDR CL E G H742193160ORPHA125612679601769
HP:0000765HP:0005257Thoracic hypoplasia1VDR CL E G H742193160ORPHA123912679601769
HP:0000765HP:0005257Thoracic hypoplasia1VDR CL E G H742193160ORPHA125612679601769
HP:0000765HP:0100656Thoracoabdominal wall defect1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1194712791604611
HP:0000765HP:0100656Thoracoabdominal wall defect1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1239112791604611
HP:0000765HP:0004878Intercostal muscle weakness1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1194712791604611
HP:0000765HP:0004878Intercostal muscle weakness1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1239112791604611
HP:0000765HP:0003043Abnormal shoulder morphology1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1194712791604611
HP:0000765HP:0003043Abnormal shoulder morphology1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1239112791604611
HP:0000765HP:0000889Abnormal clavicle morphology1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1194712791604611
HP:0000765HP:0000889Abnormal clavicle morphology1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1239112791604611
HP:0000765HP:0001547Abnormal rib cage morphology1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1194712791604611
HP:0000765HP:0001547Abnormal rib cage morphology1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1239112791604611
HP:0000765HP:0000782Abnormal scapula morphology1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1194712791604611
HP:0000765HP:0000782Abnormal scapula morphology1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1239112791604611
HP:0000765HP:0000766Abnormal sternum morphology1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1194712791604611
HP:0000765HP:0000766Abnormal sternum morphology1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1239112791604611
HP:0000765HP:0100711Abnormal thoracic spine morphology1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1194712791604611
HP:0000765HP:0100711Abnormal thoracic spine morphology1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1239112791604611
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1194712791604611
HP:0000765HP:0006711Aplasia/Hypoplasia involving bones of the thorax1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1239112791604611
HP:0000765HP:0010306Short thorax1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1194712791604611
HP:0000765HP:0010306Short thorax1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1239112791604611
HP:0000765HP:0005257Thoracic hypoplasia1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1194712791604611
HP:0000765HP:0005257Thoracic hypoplasia1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1239112791604611
HP:0000765HP:0006595Scapulohumeral synostosis2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0006595Scapulohumeral synostosis2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0041200Fractured sternal end of clavicle2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0041200Fractured sternal end of clavicle2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0003691Scapular winging2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0003691Scapular winging2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0041217Fractured shoulder2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0041217Fractured shoulder2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0100657Thoracoabdominal eventration2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0100657Thoracoabdominal eventration2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0003044Shoulder flexion contracture2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0003044Shoulder flexion contracture2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0006596Restricted chest movement2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0006596Restricted chest movement2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0041144Fractured clavicle bone2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0041144Fractured clavicle bone2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0011912Abnormality of the glenoid fossa2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0011912Abnormality of the glenoid fossa2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0200021Down-sloping shoulders2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0200021Down-sloping shoulders2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0006659Internally rotated shoulders2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0006659Internally rotated shoulders2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0032201Rotator cuff tear2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0032201Rotator cuff tear2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0003834Shoulder dislocation2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0003834Shoulder dislocation2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0003836Stippled calcification of the shoulder2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0003836Stippled calcification of the shoulder2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0006710Aplasia/Hypoplasia of the clavicles2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0006710Aplasia/Hypoplasia of the clavicles2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0000916Broad clavicles2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0000916Broad clavicles2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0100923Clavicular sclerosis2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0100923Clavicular sclerosis2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0000895Lateral clavicle hook2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0000895Lateral clavicle hook2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0000890Long clavicles2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0000890Long clavicles2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0006599Medial widening of clavicles2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0006599Medial widening of clavicles2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0000905Progressive clavicular acroosteolysis2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0000905Progressive clavicular acroosteolysis2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0006587Straight clavicles2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0006587Straight clavicles2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0006645Thin clavicles2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0006645Thin clavicles2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0010560Undulate clavicles2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0010560Undulate clavicles2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0005259Abnormal facility in opposing the shoulders2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0005259Abnormal facility in opposing the shoulders2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0000772Abnormality of the ribs2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0000772Abnormality of the ribs2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0000893Bulging of the costochondral junction2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0000893Bulging of the costochondral junction2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0000897Rachitic rosary2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0000897Rachitic rosary2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0006712Aplasia/Hypoplasia of the ribs2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0006712Aplasia/Hypoplasia of the ribs2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0001555Asymmetry of the thorax2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0001555Asymmetry of the thorax2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0001591Bell-shaped thorax2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0001591Bell-shaped thorax2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0000886Deformed rib cage2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0000886Deformed rib cage2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0100625Enlarged thorax2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0100625Enlarged thorax2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0006644Thoracic dysplasia2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0006644Thoracic dysplasia2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0006713Aplasia/Hypoplasia of the scapulae2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0006713Aplasia/Hypoplasia of the scapulae2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0041244Fractured scapula2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0041244Fractured scapula2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0031233Horizontal inferior border of scapula2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0031233Horizontal inferior border of scapula2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0000918Scapular exostoses2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0000918Scapular exostoses2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0001474Sclerotic scapulae2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0001474Sclerotic scapulae2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0000912Sprengel anomaly2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0000912Sprengel anomaly2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0006650Thickening of the lateral border of the scapula2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0006650Thickening of the lateral border of the scapula2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0011863Abnormal sternal ossification2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0011863Abnormal sternal ossification2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0100892Abnormality of the xiphoid process2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765HP:0100892Abnormality of the xiphoid process2ACTA1 CL E G H58171433ORPHA1362129102610
HP:0000765HP:0006714Aplasia/Hypoplasia of the sternum2ACTA1 CL E G H58171433ORPHA1325129102610
HP:0000765H