Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, 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:Pectus Carinatum
go back to main search page
Accession:DOID:9004665 term browser browse the term
Definition:A developmental anomaly characterized by abnormal anterior protrusion of the STERNUM and adjacent COSTAL CARTILAGE.
Synonyms:exact_synonym: Arcuate Pectus Carinatum;   Arcuate Pectus Carinatums;   Chondrogladiolar Pectus Carinatum;   Chondrogladiolar Pectus Carinatums;   Chondromanubrial Pectus Carinatum;   Chondromanubrial Pectus Carinatums;   Currarino Silverman Syndrome;   Pectus Carinatums;   Pouter Pigeon Breast;   Pouter Pigeon Breasts
 primary_id: MESH:D066166;   RDO:0015990
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Pectus Carinatum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Pectus carinatum ClinVar PMID:25741868 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14396
    Developmental Disease 11674
      bone development disease 1747
        Pectus Carinatum 1
Path 2
Term Annotations click to browse term
  disease 14396
    disease of anatomical entity 14114
      musculoskeletal system disease 6504
        connective tissue disease 4397
          bone disease 3125
            bone development disease 1747
              Pectus Carinatum 1
paths to the root