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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: MIM:169300


show annotations for term's descendants           Sort by:
Funnel Chest term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arf3 ARF GTPase 3 ISO ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:25741868 NCBI chr 7:129,886,082...129,912,022
Ensembl chr 7:129,886,082...129,912,002 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: funnel chest 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 PMID:27346687 PMID:28062395 PMID:28492532 PMID:30755392 NCBI chr 2:59,419,507...59,446,746
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:15987685 PMID:16358218 PMID:17020470 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: funnel chest ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Pectus excavatum 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: funnel chest ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:139,308,608...139,310,687
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:8062826 PMID:8099841 PMID:8425176 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
Osteofibrous Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase susceptibility ISO ClinVar Annotator: match by term: Osteofibrous dysplasia | ClinVar Annotator: match by term: TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM | ClinVar Annotator: match by term: Tibia, bowing of, with pseudarthrosis and pectus excavatum
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1270474 PMID:9234973 PMID:11042681 PMID:12920089 PMID:14559814 More... NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      bone development disease 2385
        Funnel Chest 11
          Osteofibrous Dysplasia 1
          Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 0
          Secundum Atrial Septal Defect with Various Cardiac and Noncardiac Defects 0
          Zori Stalker Williams Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Skin and Connective Tissue Diseases 7769
        connective tissue disease 5917
          bone disease 4362
            bone development disease 2385
              Funnel Chest 11
                Osteofibrous Dysplasia 1
                Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 0
                Secundum Atrial Septal Defect with Various Cardiac and Noncardiac Defects 0
                Zori Stalker Williams Syndrome 0
paths to the root