You are using an outdated browser. Please upgrade your browser to improve your experience.
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
Disease Summary
Associated Targets (4)
Tchem
2
Tclin
1
Tbio
1
Mondo Description 46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.
Mondo Term and Equivalent IDs
MONDO:0019597: 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
Download Data for 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:90796
UMLS:CN206443
MONDO:0019597
High level summary of knowledge for a disease, including descriptions and datasource references.