SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris
0.120 Biomarker disease BEFREE Testicular or ovotesticular disorder of sex development (DSD) in genetic females (78,XX; SRY-negative) has been reported quite frequently in numerous dog breeds and is usually diagnosed due to the presence of female external genitalia with an enlarged clitoris. 27089505 2016
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris
0.120 Biomarker disease BEFREE An 11-and-a-half-year-old girl with 45,X karyotype showed signs of accelerated growth and clitoromegaly and was found to have elevated serum T. Fluorescence in situ hybridization was used to confirm her karyotype as monosomy X and absence of the SRY gene. 21496812 2011
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris
0.120 Biomarker disease HPO