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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


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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 IAGP ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:25741868 PMID:28492532 PMID:29566152 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497 		JBrowse link
G WNT4 Wnt family member 4 IAGP
EXP		 ClinVar Annotator: match by term: SERKAL syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:18179883 PMID:25741868 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      endocrine system disease 7704
        adrenal gland disease 367
          46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 2
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        Congenital Abnormalities 14120
          Urogenital Abnormalities 543
            disorder of sexual development 287
              46, XX Disorders of Sex Development 40
                46,XX sex reversal 7
                  46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 2
paths to the root