RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
AMHR2-RELATED CONDITION; FEMALE GENITAL DUCTS IN OTHERWISE NORMAL MALE; PMDS; Persistent M?llerian Duct Syndrome; Persistent mullerian duct syndrome, types 1 and 2; hernia uteri inguinale; persistent Muellerian duct syndrome; persistent Mullerian duct syndrome, types I and II; persistent oviduct syndrome; pseudohermaphroditism, male internal
narrow_synonym:
AMH-RELATED CONDITION; Persistent Mullerian duct syndrome, type I; Persistent Mullerian duct syndrome, type II
ClinVar Annotator: match by term: AMH-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: marker/mechanism OMIM:261550 ClinVar Annotator: match by term: AMHR2-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type II