FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term partial androgen insensitivity syndrome ID (Ontology) DOID:0080776 (Human Disease)
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.
Also Known As "Reifenstein syndrome"
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 Genes
 partial androgen insensitivity syndrome       1
 for disease ribbon | partial androgen insensitivity syndrome       1
 model of | partial androgen insensitivity syndrome       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease_______
disorder of sexual development       |
 |__androgen insensitivity syndrome__|
                                     partial androgen insensitivity syndrome  1 rec.
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Is a X-linked recessive disease
androgen insensitivity syndrome
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Synonyms
  • "Reifenstein syndrome" EXACT
Secondary IDs
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GARD:5692
MIM:312300
ORDO:90797