AMH, anti-Mullerian hormone, 268

N. diseases: 242; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism
0.140 Biomarker disease BEFREE Persistent mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism caused by defects in synthesis or actions of mullerian inhibiting factor characterised by persistence of mullerian duct structures in a normal karyotype male. 29669771 2018
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism
0.140 Biomarker disease BEFREE Persistent Müllerian duct syndrome (PMDS) is a rare type of male pseudohermaphroditism caused by a deficiency in anti-Müllerian hormone (AMH) or a defect in its type II receptor. 29285121 2017
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism
0.140 AlteredExpression disease BEFREE Mean serum levels of anti-mullerian hormone and of serum testosterone response to chorionic gonadotropin stimulation were significantly decreased in both conditions, by comparison with patients with unexplained male pseudohermaphroditism or partial androgen insensitivity (PAIS). 11808880 2002
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism
0.140 Biomarker disease BEFREE A rare form of familial male pseudohermaphroditism, the persistent Müllerian duct syndrome (PMDS) is characterized by persistence of uterus and Fallopian tubes in 46,XY phenotypic males and is ascribed to defects in the synthesis or action of anti-Müllerian hormone (AMH). 8162013 1994
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism
0.140 Biomarker disease HPO