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Standards Ontologies Notations
Mullerian aplasia and hyperandrogenism

Summary
Synonym
  • Mullerian duct failure and hyperandrogenism
  • WNT4 deficiency
Definition
A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12.
Super Class
autosomal dominant disease disorder of sexual development
External Links
Disease Ontology
DOID:0111526
Mondo Disease Ontology
MeSH
UMLS
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ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54361 WNT4 Wnt family member 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
22417 Wnt4 wingless-type MMTV integration site family, member 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
84426 Wnt4 Wnt family member 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
35975 Wnt2 Wnt oncogene analog 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
30123 wnt4 wingless-type MMTV integration site family, member 4
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
397706 wnt4.L Wnt family member 4 L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
173399 cwn-1 Protein Wnt-1
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024