Phenotypes associated with the disease androgen insensitivity syndrome (OMIM:300068):
- Labial hypoplasia (HP:0000066). Evidence: TAS. (OMIM:300068)
- Neoplasm (HP:0002664): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: IEA. (OMIM:300068)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: IEA. (OMIM:300068)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: IEA. (OMIM:300068)
- Absent facial hair (HP:0002550): Absence of facial hair. Evidence: IEA. (OMIM:300068)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: TAS. (OMIM:300068)
- Blind vagina (HP:0040314): The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia. Evidence: TAS. (OMIM:300068)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: IEA. (OMIM:300068)
- Growth abnormality (HP:0001507). Evidence: IEA. (OMIM:300068)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: TAS. (OMIM:300068)
- Female external genitalia in individual with 46,XY karyotype (HP:0008730): The presence of female external genitalia in a person with a male karyotype. Evidence: IEA. (OMIM:300068)
- Sparse pubic hair (HP:0002225): Reduced number or density of pubic hair. Evidence: IEA. (OMIM:300068)
- Primary amenorrhea (HP:0000786). Evidence: TAS. (OMIM:300068)
- Sparse axillary hair (HP:0002215): Reduced number or density of axillary hair. Evidence: IEA. (OMIM:300068)