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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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Path 1
Term Annotations click to browse term
  disease 15960
    syndrome 9252
      Kallmann syndrome 32
        Brachytelephalangy Characteristic Facies Kallmann 0
Path 2
Term Annotations click to browse term
  disease 15960
    Developmental Disease 15901
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15853
        Congenital Abnormalities 6891
          Urogenital Abnormalities 409
            disorder of sexual development 214
              46, XY Disorders of Sex Development 76
                Kallmann syndrome 32
                  Brachytelephalangy Characteristic Facies Kallmann 0
paths to the root