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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:29566152 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Serkal syndrome
ClinVar Annotator: match by OMIM:611812
OMIM
ClinVar
PMID:18179883, PMID:25741868 NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      respiratory system disease 2733
        lung disease 1626
          46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 2
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4791
          Urogenital Abnormalities 286
            disorder of sexual development 182
              46, XX Disorders of Sex Development 28
                46,XX sex reversal 7
                  46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.