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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Funnel Chest
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Accession:DOID:9001510 term browser browse the term
Definition:A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax.
Synonyms:exact_synonym: funnel chests;   pectus excavatum
 primary_id: MESH:D005660
 alt_id: OMIM:169300
For additional species annotation, visit the Alliance of Genome Resources.



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Funnel Chest term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:16770791 PMID:17041906 PMID:23536893 PMID:25007885 PMID:25741868 More... NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 ISO ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:25741868 NCBI chr 2:59,419,505...59,446,743
Ensembl chr 2:59,419,510...59,446,752
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:25741868 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:11992261 PMID:14644997 PMID:15539800 PMID:15723289 PMID:15987685 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Funnel chest ClinVar PMID:25741868 NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056
JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:139,308,608...139,310,734
Ensembl chr  X:139,309,329...139,310,678
JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:25741868 NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Funnel chest ClinVar PMID:1631137 PMID:1978757 PMID:8099841 PMID:8425176 PMID:8527048 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      bone development disease 1423
        Funnel Chest 8
          Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 0
          Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 0
          Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum 0
          Zori Stalker Williams Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      Skin and Connective Tissue Diseases 5876
        connective tissue disease 4452
          bone disease 3125
            bone development disease 1423
              Funnel Chest 8
                Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 0
                Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 0
                Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum 0
                Zori Stalker Williams Syndrome 0
paths to the root