Persistent mullerian duct syndrome, types I and II

Preferred Label : Persistent mullerian duct syndrome, types I and II;

Symbol : PMDS;

CISMeF acronym : PMDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hernia uteri inguinale; Persistent oviduct syndrome; Pseudohermaphroditism, male internal; Female genital ducts in otherwise normal male;

Description : The persistent mullerian duct syndrome is characterized by the persistence of mullerian derivatives, uterus and tubes, in otherwise normally virilized males (summary by Knebelmann et al., 1991).;

Inheritance : Autosomal recessive with male sex limitation;

Prefixed ID : #261550;

Details

Origin ID

261550;

UMLS CUI

C1849930;

Automatic exact mappings (from CISMeF team)
- Persistent Muellerian duct syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Persistent Mullerian Duct Syndrome [NCIt concept]
- Persistent Mullerian duct syndrome [ICD-11 More detail]
- Persistent Mullerian duct syndrome [MeSH concept]
- Persistent Mullerian duct syndrome [MeSH Supplementary Concept]
- Persistent Müllerian duct syndrome [ORDO Disease]
- Persistent Müllerian duct syndrome (disorder) [SNOMED CT concept]
- persistent Mullerian duct syndrome [DO Concept]
DO Cross reference
- persistent Mullerian duct syndrome [DO Concept]
Genes related to phenotype
- Anti-mullerian hormone [OMIM gene]
- Anti-mullerian hormone type II receptor [OMIM gene]
HPO term(s)
- Abnormal circulating hormone concentration [HPO term]
- Abnormality of male internal genitalia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral cryptorchidism [HPO term]
- Inguinal hernia [HPO term]
- Male infertility [HPO term]
ORDO concept(s)
- Persistent Müllerian duct syndrome [ORDO Disease]
Semantic type(s)
- Anatomical Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Persistent Muellerian duct syndrome [MedDRA Preferred Term]
- Persistent Mullerian Duct Syndrome [NCIt concept]
- Persistent Mullerian duct syndrome [MeSH Supplementary Concept]
- Persistent Mullerian duct syndrome [MeSH concept]
- Persistent Mullerian duct syndrome [ICD-11 More detail]
- Persistent Müllerian duct syndrome [ORDO Disease]
- Persistent Müllerian duct syndrome (disorder) [SNOMED CT concept]
- persistent Mullerian duct syndrome [DO Concept]

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