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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:Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
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Accession:DOID:9005561 term browser browse the term
Synonyms:exact_synonym: Toriello-Carey Syndrome
 primary_id: MESH:C563127
 alt_id: MIM:217980;   RDO:0012516


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      congenital heart disease 1404
        Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
Path 2
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        Congenital Abnormalities 7780
          Musculoskeletal Abnormalities 3441
            Craniofacial Abnormalities 2766
              Maxillofacial Abnormalities 312
                Jaw Abnormalities 266
                  Weissenbacher-Zweymuller syndrome 46
                    Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
paths to the root