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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:Holzgreve-Wagner-Rehder syndrome
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Accession:DOID:0060566 term browser browse the term
Definition:A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. (DO)
Synonyms:exact_synonym: Complex congenital heart defect, renal agenesis, and cleft lip and palate;   Holzgreve syndrome
 primary_id: MESH:C535327
 alt_id: OMIM:236110;   RDO:0000383
 xref: ORDO:2167


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Holzgreve-Wagner-Rehder syndrome 0
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Musculoskeletal Abnormalities 3302
            Craniofacial Abnormalities 2657
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  orofacial cleft 155
                    cleft lip 59
                      Holzgreve-Wagner-Rehder syndrome 0
paths to the root