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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:acrocardiofacial syndrome
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Accession:DOID:0070419 term browser browse the term
Definition:A syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit. (DO)
Synonyms:exact_synonym: ACFS;   CCGE;   Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly;   cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome
 primary_id: MESH:C563936
 alt_id: DOID:9001696;   MIM:600460
 xref: GARD:1167;   ORDO:2008


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      congenital heart disease 1408
        acrocardiofacial syndrome 0
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        Congenital Abnormalities 7885
          Musculoskeletal Abnormalities 3457
            Craniofacial Abnormalities 2779
              Maxillofacial Abnormalities 315
                Jaw Abnormalities 269
                  orofacial cleft 160
                    cleft palate 118
                      acrocardiofacial syndrome 0
paths to the root