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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:Pectus Carinatum
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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


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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 chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15754
    Developmental Disease 13756
      bone development disease 2355
        Pectus Carinatum 1
Path 2
Term Annotations click to browse term
  disease 15754
    disease of anatomical entity 15375
      musculoskeletal system disease 7924
        connective tissue disease 5433
          bone disease 3916
            bone development disease 2355
              Pectus Carinatum 1
paths to the root