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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:mixed gonadal dysgenesis
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Accession:DOID:14449 term browser browse the term
Definition:A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis. (DO)
Synonyms:primary_id: MESH:D006060
 xref: NCI:C120199
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      endocrine system disease 7042
        gonadal disease 1393
          disorder of sexual development 238
            gonadal dysgenesis 61
              mixed gonadal dysgenesis 0
                45,X/46,XY mixed gonadal dysgenesis 0
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          chromosomal disease 3186
            Sex Chromosome Disorders 85
              Sex Chromosome Disorders of Sex Development 26
                mixed gonadal dysgenesis 0
                  45,X/46,XY mixed gonadal dysgenesis 0
paths to the root