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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:Lubs Syndrome
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Accession:DOID:9003315 term browser browse the term
Synonyms:exact_synonym: Pseudohermaphroditism, Incomplete Male, Type I;   Rosewater syndrome;   Type I familial incomplete male pseudohermaphroditism
 primary_id: MESH:C538435;   RDO:0004407
For additional species annotation, visit the Alliance of Genome Resources.



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Lubs Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Type I familial incomplete male pseudohermaphroditism ClinVar PMID:16804045 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      Lubs Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        Congenital Abnormalities 6693
          Urogenital Abnormalities 377
            disorder of sexual development 208
              46, XY Disorders of Sex Development 67
                androgen insensitivity syndrome 4
                  Lubs Syndrome 1
paths to the root