Mullerian aplasia and hyperandrogenism

Preferred Label : Mullerian aplasia and hyperandrogenism;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mullerian duct failure and hyperandrogenism;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the wingless-type MMTV integration site family, member 4 gene (WNT4, 603490.0001);

Laboratory abnormalities : Elevated testosterone; Elevated androstenedione;

Prefixed ID : #158330;

Détails

Origin ID

158330;

UMLS CUI

C2675014;

Automatic exact mappings (from CISMeF team)
- Mullerian aplasia [MeSH concept]
- Mullerian aplasia (disorder) [SNOMED CT concept]
- Müllerian aplasia [ORDO Disease]
- mullerian aplasia [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Mullerian Aplasia and Hyperandrogenism [NCIt concept]
- Mullerian aplasia and hyperandrogenism [DO Concept]
- Müllerian aplasia and hyperandrogenism [ORDO Disease]
- WNT4 deficiency [MedDRA Preferred Term]
- mullerian aplasia and hyperandrogenism [MeSH concept]
- mullerian aplasia and hyperandrogenism [MeSH Supplementary Concept]
DO Cross reference
- Mullerian aplasia and hyperandrogenism [DO Concept]
Genes related to phenotype
- Wingless-type mmtv integration site family, member 4 [OMIM gene]
HPO term(s)
- Abnormality of the endocrine system [HPO term]
- Acne [HPO term]
- Amenorrhea [HPO term]
- Aplasia of the uterus [HPO term]
- Aplasia of the vagina [HPO term]
- Aplasia/Hypoplasia of the fallopian tube [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hirsutism [HPO term]
- Unilateral renal agenesis [HPO term]
Matching ORDO disease(s)
- Müllerian aplasia [ORDO Disease]
Not associated HPO term(s)
- Abnormal external genitalia [HPO term]
ORDO concept(s)
- Müllerian aplasia and hyperandrogenism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mullerian Aplasia and Hyperandrogenism [NCIt concept]
- Mullerian aplasia and hyperandrogenism [DO Concept]
- Müllerian aplasia and hyperandrogenism [ORDO Disease]
- WNT4 deficiency [MedDRA Preferred Term]
- mullerian aplasia and hyperandrogenism [MeSH Supplementary Concept]
- mullerian aplasia and hyperandrogenism [MeSH concept]

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