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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

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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 ISO ClinVar Annotator: match by term: Braddock-carey syndrome 2 OMIM
ClinVar		 PMID:28150392 NCBI chrNW_004936695:861,324...919,368
Ensembl chrNW_004936695:861,550...919,368 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      Weissenbacher-Zweymuller syndrome 47
        Braddock Carey Syndrome 1
          Braddock-Carey Syndrome 1 0
          Braddock-Carey Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7061
          Musculoskeletal Abnormalities 3133
            Craniofacial Abnormalities 2528
              Maxillofacial Abnormalities 301
                Jaw Abnormalities 257
                  Weissenbacher-Zweymuller syndrome 47
                    Braddock Carey Syndrome 1
                      Braddock-Carey Syndrome 1 0
                      Braddock-Carey Syndrome 2 1
paths to the root