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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 8
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Accession:DOID:0111773 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 AKR1C2 on chromosome 10p15.1. (DO)
Synonyms:exact_synonym: SRXY8;   TDD;   male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
 primary_id: MESH:C564109
 alt_id: OMIM:614279
 xref: ORDO:443087
For additional species annotation, visit the Alliance of Genome Resources.


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46,XY sex reversal 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c1 aldo-keto reductase family 1, member C1 ISO ClinVar Annotator: match by OMIM:614279 OMIM
ClinVar
PMID:4352099, PMID:21802064 NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321
JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by OMIM:614279
ClinVar Annotator: match by term: 46,XY sex reversal 8
OMIM
ClinVar
PMID:4352099, PMID:21802064, PMID:25741868 NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                46,XY sex reversal 8 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, XY Disorders of Sex Development 42
                46,XY sex reversal 16
                  46,XY sex reversal 8 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.