Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.890 GeneticVariation disease BEFREE A novel homozygous missense mutation, c.119G>C;p.Gly40Ala, in exon 2 of AMHR2 was detected that supported the clinical diagnosis of PMDS. 30933950 2019
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.890 GeneticVariation disease BEFREE AMH or AMHR2 mutations in mammals lead to the development of Persistent Müllerian Duct Syndrome (PMDS), a recessive condition in which affected males are fully virilized but retain Müllerian duct-derived tissues, including a uterus and oviducts, and in human and dog, undescended testes. 31301298 2019
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.890 GeneticVariation disease BEFREE In this study, we report and characterize a new case of PMDS in a dog excluding that the only mutation hitherto found in the AMHR2 gene is responsible for the observed phenotype. 30086548 2018
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.890 GeneticVariation disease BEFREE Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome. 28142151 2017
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.890 Biomarker disease GENOMICS_ENGLAND The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases. 28528332 2017
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.890 GeneticVariation disease BEFREE A Novel Mutation of AMHR2 In Two Siblings with Persistent Müllerian Duct Syndrome. 29332065 2017
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.890 GeneticVariation disease BEFREE Herein, we report on a male infant with PMDS caused by a novel homozygous missense mutation in AMHR2 (c.928C>T; p.Q310X), review the literature, and discuss the diverse clinical and surgical approaches to this condition. 27464416 2016
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.890 Biomarker disease BEFREE Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome. 23295284 2012
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.890 GermlineCausalMutation disease ORPHANET Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome. 23295284 2012
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.890 GeneticVariation disease BEFREE Mutations in the AMH gene or its type II receptor gene AMHR2 lead to persistence of the uterus and fallopian tubes in male children, i.e. persistent müllerian duct syndrome (PMDS). 22188863 2011
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.890 Biomarker disease MGD β-Catenin is essential for Müllerian duct regression during male sexual differentiation. 21490063 2011
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.890 GeneticVariation disease BEFREE This case reveals a novel mutation in the MISRII gene involving intronic sequences, which when coexisting with the already identified 27-bp deletion in exon 10, leads to PMDS. 14745940 2003
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.890 GeneticVariation disease UNIPROT Autosomal recessive segregation of a truncating mutation of anti-Müllerian type II receptor in a family affected by the persistent Müllerian duct syndrome contrasts with its dominant negative activity in vitro. 11549681 2001
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.890 Biomarker disease MGD Genetic analysis of the Müllerian-inhibiting substance signal transduction pathway in mammalian sexual differentiation. 8895659 1996
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.890 GeneticVariation disease UNIPROT A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome. 8872466 1996
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.890 Biomarker disease CTD_human
CUI: C1720887
Disease: Female Urogenital Diseases
Female Urogenital Diseases 		0.300 Biomarker group CTD_human Development of the mammalian female reproductive tract. 16002989 2005
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.120 GeneticVariation disease BEFREE AMH or AMHR2 mutations in mammals lead to the development of Persistent Müllerian Duct Syndrome (PMDS), a recessive condition in which affected males are fully virilized but retain Müllerian duct-derived tissues, including a uterus and oviducts, and in human and dog, undescended testes. 31301298 2019
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.120 AlteredExpression disease BEFREE In this report, the expression of the anti-Mullerian hormone receptor type 2 (AMHR2), the specific receptor of AMH, on the AT was investigated in connection with different urological disorders, such as hernia inguinalis, torsion of AT, cysta epididymis, varicocele, hydrocele testis and various forms of undescended testis. 23291863 2013
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.120 Biomarker disease HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0021364
Disease: Male infertility
Male infertility 		0.100 Biomarker phenotype HPO
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.100 Biomarker disease HPO
CUI: C3897940
Disease: PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II
PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II 		0.100 CausalMutation disease CLINVAR
CUI: C4025899
Disease: Abnormality of male internal genitalia
Abnormality of male internal genitalia 		0.100 Biomarker disease HPO