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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:Braddock Carey Syndrome
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Accession:DOID:9008270 term browser browse the term
Synonyms:exact_synonym: Thrombocytopenia Robin Sequence
 primary_id: MESH:C536898
 xref: OMIM:PS619980


show annotations for term's descendants           Sort by:
Braddock-Carey Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF15 kinesin family member 15 IAGP ClinVar Annotator: match by term: Braddock-carey syndrome 2 OMIM
ClinVar		 PMID:28150392 NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      Weissenbacher-Zweymuller syndrome 50
        Braddock Carey Syndrome 1
          Braddock-Carey Syndrome 1 0
          Braddock-Carey Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        Congenital Abnormalities 14117
          Musculoskeletal Abnormalities 5235
            Craniofacial Abnormalities 4196
              Maxillofacial Abnormalities 372
                Jaw Abnormalities 321
                  Weissenbacher-Zweymuller syndrome 50
                    Braddock Carey Syndrome 1
                      Braddock-Carey Syndrome 1 0
                      Braddock-Carey Syndrome 2 1
paths to the root