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MIRAGE
partial androgen insensitivity syndrome
Summary
- Synonym
-
- Reifenstein syndrome
- Definition
- An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action.
- Super Class
- X-linked recessive disease androgen insensitivity syndrome
External Links
- Disease Ontology
- DOID:0080776
- Mondo Disease Ontology
- ORDO
- GARD
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P10275 | Androgen receptor |
