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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


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 ADP ribosylation factor 3 IAGP ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:25741868 NCBI chr12:48,935,723...48,957,487
Ensembl chr12:48,935,723...48,957,487 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: funnel chest ClinVar PMID:16770791 PMID:17041906 PMID:23536893 PMID:25007885 PMID:25741868 More... NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 PMID:30755392 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G FAM120AOS family with sequence similarity 120 member A opposite strand IAGP ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:25558065 NCBI chr 9:93,443,332...93,453,601
Ensembl chr 9:93,431,441...93,453,581 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:25741868 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:11992261 PMID:14644997 PMID:15539800 PMID:15723289 PMID:15987685 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:25741868 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP ClinVar Annotator: match by term: funnel chest ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G TCF20 transcription factor 20 IAGP ClinVar Annotator: match by term: Pectus excavatum ClinVar PMID:25741868 NCBI chr22:42,160,013...42,343,537
Ensembl chr22:42,160,013...42,343,616 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: funnel chest ClinVar PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		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 IAGP
EXP		 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 Annotator: match by term: Osteofibrous dysplasia | ClinVar Annotator: match by term: Tibia, bowing of, with pseudarthrosis and pectus excavatum		 ClinVar
CTD
OMIM		 PMID:1270474 PMID:9234973 PMID:11042681 PMID:12920089 PMID:14559814 More... NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      bone development disease 3275
        Funnel Chest 12
          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 41189
    disease of anatomical entity 32344
      Skin and Connective Tissue Diseases 9687
        connective tissue disease 7446
          bone disease 5601
            bone development disease 3275
              Funnel Chest 12
                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