Mullerian aplasia

Congenital abnormality characterized by mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia (MURCS) in female patients; males may exhibit renal and genital abnormalities, as well as AZOOSPERMIA. Patients may also present with MIDDLE-EAR abnormalities. Molecular basis is unknown. OMIM: 601076

Also Known As:

Congenital absence of uterus and vagina; Klippel-Feil deformity, conductive deafness, and absent vagina; MRK anomaly; MRKH Syndrome; MRKH anomaly; MRKH, Type II; MURCS association; Mayer Rokitansky Kuster Hauser syndrome; Mayer-Rokitansky-Kuster-Hauser Syndrome; Mayer-Rokitansky-Kuster-Hauser Syndrome, Type II; Muellerian aplasia; Mullerian Aplasia-Dysgenesis; Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies; Mullerian duct failure; RKH syndrome; Rokitansky Kuster Hauser syndrome; Rokitansky sequence; Uterus bipartitus solidus rudimentarius cum vagina solida; Von Mayer Rokitansky Kuster anomaly; Von Mayer-Rokitansky-Kuster Anomaly

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Mullerian aplasia: 85
  - Urogenital Abnormalities: 77
    - Disorders of Sex Development: 740
      - XX Disorders of Sex Development 46: 77
        Mullerian aplasia: 85
Embryonic Structures
- Mullerian Ducts
  - Mullerian aplasia: 85
Urogenital Diseases: 129
- Urogenital Abnormalities: 77
  - Disorders of Sex Development: 740
    - XX Disorders of Sex Development 46: 77
      - Mullerian aplasia: 85
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urogenital Abnormalities: 77
      - Disorders of Sex Development: 740
        XX Disorders of Sex Development 46: 77
        Mullerian aplasia: 85
- Male Urogenital Diseases
  - Urogenital Abnormalities: 77
    - Disorders of Sex Development: 740
      - XX Disorders of Sex Development 46: 77
        Mullerian aplasia: 85
Endocrine System Diseases: 996
- Gonadal Disorders: 30
  - Disorders of Sex Development: 740
    - XX Disorders of Sex Development 46: 77
      - Mullerian aplasia: 85

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