Mullerian Aplasia and Hyperandrogenism

Preferred Label : Mullerian Aplasia and Hyperandrogenism;

NCIt related terms : WNT4 Deficiency;

NCIt definition : Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.;

Alternative definition : NICHD: Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina.;

Details

Origin ID

C120376;

UMLS CUI

C2675014;

Currated CISMeF NLP mapping
- Mullerian aplasia and hyperandrogenism [OMIM Phenotype]
- 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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mullerian aplasia and hyperandrogenism [OMIM Phenotype]
- 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]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- WNT4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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