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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:Bagatelle Cassidy syndrome
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Accession:DOID:9008007 term browser browse the term
Synonyms:exact_synonym: Macrocephaly short limbs deafness;   Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay
 primary_id: MESH:C537796
 alt_id: RDO:0003700
For additional species annotation, visit the Alliance of Genome Resources.

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      Bagatelle Cassidy syndrome 0
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal dominant disease 5080
                complex cortical dysplasia with other brain malformations 1424
                  Malformations of Cortical Development, Group I 1270
                    Macrocephaly 70
                      Bagatelle Cassidy syndrome 0
paths to the root