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. [ url:http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007637 url:http://omim.org/entry/261550?search=261550&highlight=261550 http://purl.obolibrary.org/obo/ECO_0007645 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 url:https://www.ncbi.nlm.nih.gov/pubmed/20352001 ]
Synonyms: persistent Muellerian duct syndrome
Term information
- SNOMEDCT_US_2023_03_01:702358005
- MIM:261550
- UMLS_CUI:C1849930
- GARD:8435
- MESH:C536665
- NCI:C120188
DO_rare_slim, NCIthesaurus