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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 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 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 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
PMID:431680 PMID:755047 PMID:835597 PMID:1147889 PMID:1406794 More... NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
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 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4977
      hypospadias 87
        Pseudovaginal Perineoscrotal Hypospadias 3
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14386
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13389
        genetic disease 13004
          inherited metabolic disorder 6283
            lipid metabolism disorder 1754
              steroid inherited metabolic disorder 64
                Pseudovaginal Perineoscrotal Hypospadias 3
paths to the root