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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:25741868 PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
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 2:60,419,446...60,446,656
Ensembl chr 2:60,419,525...60,446,510
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:25741868 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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:15987685 PMID:16358218 PMID:17020470 PMID:17339163 PMID:17361219 PMID:18372317 PMID:19020799 PMID:19737548 PMID:20308328 PMID:21706501 PMID:21901340 PMID:22315187 PMID:23584145 PMID:24033266 PMID:24628801 PMID:25585602 PMID:25741868 PMID:28363362 PMID:28492532 PMID:30311386 PMID:32581362 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Funnel chest ClinVar PMID:25741868 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
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:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:25741868 NCBI chr 7:123,670,135...123,767,797
Ensembl chr 7:123,671,028...123,767,797
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 PMID:9242456 PMID:9598730 PMID:9825943 PMID:11051239 PMID:12826609 PMID:16489069 PMID:17417627 PMID:17427234 PMID:17606709 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20522432 PMID:21343334 PMID:22265402 PMID:22713868 PMID:23172776 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25741868 PMID:25925845 PMID:26467025 PMID:26619011 PMID:26787237 PMID:27374712 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:31775759 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      bone development disease 1371
        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 16918
    disease of anatomical entity 16286
      Skin and Connective Tissue Diseases 5625
        connective tissue disease 4355
          bone disease 3040
            bone development disease 1371
              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