Human Phenotype Ontology 
Grandparent Node:
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Abnormal thorax morphology (HP:0000765)help
Parent Node:
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Abnormal rib cage morphology (HP:0001547)help
..Starting node
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Bell-shaped thorax (HP:0001591)help
Term ID: 1591
Name: Bell-shaped thorax
Synonym: Bell-shaped chest; Constricted, bell-shaped thorax; Narrow, bell-shaped thorax
Definition: The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.
Comments:
Reference: HP:0001591
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal facility in opposing the shoulders (HP:0005259) help
..expandAbnormal rib morphology (HP:0000772) help
..expandAsymmetry of the thorax (HP:0001555) help
..expandDeformed rib cage (HP:0000886) help
..expandEnlarged thorax (HP:0100625) help
..expandRestricted chest movement (HP:0006596) help
..expandThoracic dysplasia (HP:0006644) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001591HP:0001591Bell-shaped thorax0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj type53
HP:0001591HP:0001591Bell-shaped thorax0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0001591HP:0001591Bell-shaped thorax0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0001591HP:0001591Bell-shaped thorax0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent85
HP:0001591HP:0001591Bell-shaped thorax0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0001591HP:0001591Bell-shaped thorax0COL11A1 CL E G H13012186ORPHA:2021FibrochondrogenesisHP:0040281 - Very frequent215
HP:0001591HP:0001591Bell-shaped thorax0COL11A2 CL E G H13022187ORPHA:2021FibrochondrogenesisHP:0040281 - Very frequent222
HP:0001591HP:0001591Bell-shaped thorax0COL11A2 CL E G H13022187OMIM:614524Fibrochondrogenesis 2.222
HP:0001591HP:0001591Bell-shaped thorax0COL1A1 CL E G H12772197OMIM:166210Osteogenesis imperfecta, type IIA373
HP:0001591HP:0001591Bell-shaped thorax0COL1A2 CL E G H12782198OMIM:166210Osteogenesis imperfecta, type IIA243
HP:0001591HP:0001591Bell-shaped thorax0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasiaHP:0040281 - Very frequent284
HP:0001591HP:0001591Bell-shaped thorax0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis149
HP:0001591HP:0001591Bell-shaped thorax0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent
HP:0001591HP:0001591Bell-shaped thorax0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21HP:0040283 - Occasional57
HP:0001591HP:0001591Bell-shaped thorax0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0001591HP:0001591Bell-shaped thorax0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0001591HP:0001591Bell-shaped thorax0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0001591HP:0001591Bell-shaped thorax0DYNC2I2 CL E G H8989128296OMIM:615633Short-Rib thoracic dysplasia 11 with or without polydactyly.
HP:0001591HP:0001591Bell-shaped thorax0FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndrome.175
HP:0001591HP:0001591Bell-shaped thorax0FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasiaHP:0040281 - Very frequent175
HP:0001591HP:0001591Bell-shaped thorax0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0001591HP:0001591Bell-shaped thorax0HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0001591HP:0001591Bell-shaped thorax0IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly.48
HP:0001591HP:0001591Bell-shaped thorax0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0001591HP:0001591Bell-shaped thorax0KDELR2 CL E G H110146305OMIM:619131OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0001591HP:0001591Bell-shaped thorax0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0001591HP:0001591Bell-shaped thorax0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0001591HP:0001591Bell-shaped thorax0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001591HP:0001591Bell-shaped thorax0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0001591HP:0001591Bell-shaped thorax0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0001591HP:0001591Bell-shaped thorax0SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndromeHP:0040281 - Very frequent6
HP:0001591HP:0001591Bell-shaped thorax0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome.6
HP:0001591HP:0001591Bell-shaped thorax0TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0001591HP:0001591Bell-shaped thorax0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0001591HP:0001591Bell-shaped thorax0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome.13
HP:0001591HP:0001591Bell-shaped thorax0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent14


Genes (32) :ABCD4 ANTXR1 BMPER CANT1 CEP120 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 CSF1R CSGALNACT1 CSPP1 DDR2 DDRGK1 DYNC2I2 FGFR2 FLNB HHAT IFT172 INPPL1 KDELR2 KIAA0586 PAM16 PAX7 PEX1 SLC26A2 SNRPB TBX15 TRIP11 UBE3B XYLT1

Diseases (31) :OMIM:614857 OMIM:230740 OMIM:608022 ORPHA:1425 OMIM:616300 ORPHA:2021 OMIM:614524 OMIM:166210 ORPHA:485 OMIM:618476 OMIM:615636 ORPHA:397715 OMIM:271665 OMIM:602557 OMIM:615633 OMIM:614592 ORPHA:313855 OMIM:108720 OMIM:600092 OMIM:615630 OMIM:258480 OMIM:619131 OMIM:613320 OMIM:618578 OMIM:214100 ORPHA:56304 ORPHA:1393 OMIM:117650 OMIM:260660 OMIM:200600 OMIM:244450
 

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