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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:Pseudovaginal Perineoscrotal Hypospadias
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Accession:DOID:9001561 term browser browse the term
Synonyms:exact_synonym: 3-OXO-5 ALPHA-STEROID DELTA 4-DEHYDROGENASE DEFICIENCY;   5-Alpha Reductase Deficiency;   Familial Incomplete Male Pseudohermaphroditism, Type 2;   Male Pseudohermaphroditism due to 5-Alpha-Reductase Deficiency;   PPSH;   Steroid 5-Alpha-Reductase Deficiency
 narrow_synonym: FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 2 MICROPENIS
 primary_id: MESH:C535830;   RDO:0001155
 alt_id: MIM:264600


show annotations for term's descendants           Sort by:
Pseudovaginal Perineoscrotal Hypospadias term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: Male pseudohermaphroditism due to 5-alpha-reductase deficiency ClinVar PMID:9097971 PMID:9497261 PMID:11403040 PMID:12036985 PMID:19234632 More... NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683 		JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 OMIM
ClinVar		 PMID:431680 PMID:755047 PMID:835597 PMID:1147889 PMID:1406794 More... NCBI chr 3:107,840,200...107,918,351
Ensembl chr 3:107,840,200...107,918,350 		JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency ClinVar PMID:18384427 PMID:28492532 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15426
    physical disorder 5065
      hypospadias 83
        Pseudovaginal Perineoscrotal Hypospadias 4
Path 2
Term Annotations click to browse term
  disease 15426
    Developmental Disease 13487
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12610
        genetic disease 12318
          inherited metabolic disorder 5841
            lipid metabolism disorder 1720
              steroid inherited metabolic disorder 63
                Pseudovaginal Perineoscrotal Hypospadias 4
paths to the root