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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:46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs
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Accession:DOID:9008540 term browser browse the term
Synonyms:exact_synonym: 46 XX gonadal dysgenesis;   SERKAL;   SERKAL SYNDROME;   Sex Reversal, Female, with Dysgenesis of Kidneys, Adrenals, and Lungs
 primary_id: MESH:C567517;   OMIM:611812;   RDO:0009565
 alt_id: RDO:0015577
For additional species annotation, visit the Alliance of Genome Resources.



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46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:28492532 PMID:29566152 NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: SERKAL syndrome OMIM
ClinVar
PMID:18179883 PMID:25741868 NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      endocrine system disease 6214
        adrenal gland disease 249
          46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 2
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        Congenital Abnormalities 6484
          Urogenital Abnormalities 376
            disorder of sexual development 205
              46, XX Disorders of Sex Development 31
                46,XX sex reversal 7
                  46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 2
paths to the root