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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 2
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Accession:DOID:9000152 term browser browse the term
Definition:Characterized by congenital thrombocytopenia, microcephaly, and facial dysmorphisms including Pierre-Robin sequence. Caused by homozygous mutation in the KIF15 gene on chromosome 3p21.
Synonyms:exact_synonym: BRDCS2
 primary_id: MIM:619981

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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:25741868 PMID:28150392 NCBI chr22:6,238,804...6,325,804
Ensembl chr22:6,249,567...6,325,510 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    syndrome 10459
      Weissenbacher-Zweymuller syndrome 47
        Braddock Carey Syndrome 1
          Braddock-Carey Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15416
    Developmental Disease 13504
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12665
        Congenital Abnormalities 7666
          Musculoskeletal Abnormalities 3390
            Craniofacial Abnormalities 2741
              Maxillofacial Abnormalities 312
                Jaw Abnormalities 265
                  Weissenbacher-Zweymuller syndrome 47
                    Braddock Carey Syndrome 1
                      Braddock-Carey Syndrome 2 1
paths to the root