Human Phenotype Ontology 
Grandparent Node:
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Abnormal rib cage morphology (HP:0001547)help
Parent Node:
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Enlarged thorax (HP:0100625)help
..Starting node
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Shield chest (HP:0000914)help
Term ID: 914
Name: Shield chest
Synonym: Broad chest; Shield chest
Definition: A broad chest.
Comments:
Reference: HP:0000914
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBarrel-shaped chest (HP:0001552) help
..expandIncreased anterioposterior diameter of thorax (HP:0005253) help
..expandLong thorax (HP:0100818) 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:0000914HP:0000914Shield chest0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0000914HP:0000914Shield chest0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0000914HP:0000914Shield chest0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0000914HP:0000914Shield chest0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0000914HP:0000914Shield chest0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0000914HP:0000914Shield chest0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0000914HP:0000914Shield chest0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0000914HP:0000914Shield chest0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0000914HP:0000914Shield chest0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0000914HP:0000914Shield chest0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000914HP:0000914Shield chest0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0000914HP:0000914Shield chest0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2.6
HP:0000914HP:0000914Shield chest0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0000914HP:0000914Shield chest0RAB5IF CL E G H5596915870OMIM:616994
HP:0000914HP:0000914Shield chest0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040282 - Frequent138
HP:0000914HP:0000914Shield chest0TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked.46
HP:0000914HP:0000914Shield chest0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040283 - Occasional214
HP:0000914HP:0000914Shield chest0WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenismHP:0040283 - Occasional4
HP:0000914HP:0000914Shield chest0XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome.5


Genes (16) :BRAF CHST3 DYM FUCA1 IDH1 KRAS LZTR1 MAP2K1 POP1 PTPN11 RAB5IF SRCAP TRAPPC2 TRPV4 WNT4 XYLT2

Diseases (17) :OMIM:115150 OMIM:613707 OMIM:163950 OMIM:613706 OMIM:143095 OMIM:223800 OMIM:230000 ORPHA:99646 OMIM:609942 OMIM:605275 OMIM:617396 OMIM:616994 ORPHA:2044 OMIM:313400 ORPHA:93314 ORPHA:247768 OMIM:605822
 

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