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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,XY sex reversal 7
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Accession:DOID:0111774 term browser browse the term
Definition:A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12. (DO)
Synonyms:exact_synonym: DHH-related 46,XY gonadal dysgenesis, complete;   DHH-related 46,XY gonadal dysgenesis, complete or partial;   DHH-related 46,XY sex reversal, partial or complete;   GDXYM;   SRXY7;   XY gonadal dysgenesis, male limited
 primary_id: MESH:C565537
 alt_id: OMIM:233420


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46,XY sex reversal 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhh desert hedgehog signaling molecule ISO ClinVar Annotator: match by term: 46,XY sex reversal 7 | ClinVar Annotator: match by term: DHH-Related 46,XY complete gonadal dysgenesis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535 NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                46,XY sex reversal 7 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        Congenital Abnormalities 7578
          Urogenital Abnormalities 445
            disorder of sexual development 233
              46, XY Disorders of Sex Development 83
                46,XY sex reversal 19
                  46,XY sex reversal 7 1
paths to the root