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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:Brachytelephalangy Characteristic Facies Kallmann
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Accession:DOID:9002617 term browser browse the term
Synonyms:exact_synonym: Brachytelephalangy with Characteristic Facies and Kallmann Syndrome;   Characteristic craniofacial appearance and brachytelephalangy
 primary_id: MESH:C537101
 alt_id: OMIM:113480


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      Kallmann syndrome 33
        Brachytelephalangy Characteristic Facies Kallmann 0
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        Congenital Abnormalities 7571
          Urogenital Abnormalities 441
            disorder of sexual development 230
              46, XY Disorders of Sex Development 80
                Kallmann syndrome 33
                  Brachytelephalangy Characteristic Facies Kallmann 0
paths to the root