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persistent Mullerian duct syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.
Uniprot Description A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.
Disease Ontology Description A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male.
Mondo Term and Equivalent IDs
MONDO:0009857:  persistent Mullerian duct syndrome
GARD:0008435: 
MESH:C536665: 
NCIT:C120188: 
Orphanet:2856: 
SCTID:702358005: 
UMLS:C1849930: