- Aplasia of the uterus (HP:0000151, a Human Phenotype Ontology term): A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:3109)
- Primary amenorrhea (HP:0000786, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:3109)
- Hypoplasia of the vagina (HP:0008726, a Human Phenotype Ontology term): Developmental hypoplasia of the vagina. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:3109)
- Abnormality of the kidney (HP:0000077, a Human Phenotype Ontology term): An abnormality of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:3109)
- Depression (HP:0000716, a Human Phenotype Ontology term): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:3109)
- Anxiety (HP:0000739, a Human Phenotype Ontology term): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:3109)
- Abdominal pain (HP:0002027, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:3109)
- Dyspareunia (HP:0030016, a Human Phenotype Ontology term): Recurrent or persistent genital pain associated with sexual intercourse. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:3109)
- Horseshoe kidney (HP:0000085, a Human Phenotype Ontology term): A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:3109)
- Ectopic kidney (HP:0000086, a Human Phenotype Ontology term): A developmental defect in which a kidney is located in an abnormal anatomic position. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:3109)
- Unilateral renal agenesis (HP:0000122, a Human Phenotype Ontology term): A unilateral form of agenesis of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:3109)
- Vertebral fusion (HP:0002948, a Human Phenotype Ontology term): A developmental defect leading to the union of two adjacent vertebrae. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:3109)
- Abnormal vertebral body morphology (HP:0003312, a Human Phenotype Ontology term): Abnormal form of vertebral body, which is the central cylindrical portion of the vertebra that together with other structures such as the vertebral arch, pedicles, laminae, spinous process, transverse processes, and articular facets makes up a vertebra. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:3109)
- Vertebral segmentation defect (HP:0003422, a Human Phenotype Ontology term): An abnormality related to a defect of vertebral separation during development. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:3109)
- Abnormal sacrum morphology (HP:0005107, a Human Phenotype Ontology term): An abnormality of the sacral bone. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:3109)
- Bipolar affective disorder (HP:0007302, a Human Phenotype Ontology term): Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:3109)
- Aplasia of the ovary (HP:0010463, a Human Phenotype Ontology term): Aplasia, that is failure to develop, of the ovary. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:3109)
- Endometriosis (HP:0030127, a Human Phenotype Ontology term): The growth of endometrial tissue outside the uterus. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:3109)
- Ectopic ovary (HP:0031086, a Human Phenotype Ontology term): Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:3109)
- Abnormal ear morphology (HP:0031703, a Human Phenotype Ontology term): Any structural anomaly of the ear. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:3109)
- Addictive substance use (HP:0033511, a Human Phenotype Ontology term): Chronic compulsive drug seeking and continued use despite harmful consequences. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:3109)
- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:3109)
- Atrial septal defect (HP:0001631, a Human Phenotype Ontology term): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:3109)
- Pulmonic stenosis (HP:0001642, a Human Phenotype Ontology term): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:3109)
These phenotypes are associated with the disease Mayer-Rokitansky-Küster-Hauser syndrome (ORPHA:3109, an Orphanet rare-disease identifier).