Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 gonadal dysgenesis, complete, dhh-related
ClinVar Annotator: match by OMIM:233420
ClinVar Annotator: match by term: DHH-Related 46,XY complete gonadal dysgenesis
OMIM
ClinVar
PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535 NCBI chr 7:140,575,288...140,580,783
Ensembl chr 7:140,575,288...140,580,783
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                46,XY sex reversal 7 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        Congenital Abnormalities 4716
          Urogenital Abnormalities 256
            disorder of sexual development 151
              46, XY Disorders of Sex Development 41
                46,XY sex reversal 16
                  46,XY sex reversal 7 1
paths to the root