Phenotypes associated with the disease Mycophenolate mofetil embryopathy (ORPHA:268249):
- Ectopic kidney (HP:0000086): A developmental defect in which a kidney is located in an abnormal anatomic position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268249)
- Orofacial cleft (HP:0000202): The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268249)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268249)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268249)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268249)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268249)
- Atresia of the external auditory canal (HP:0000413): Absence or failure to form of the external auditory canal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:268249)
- Chorioretinal coloboma (HP:0000567): Absence of a region of the retina, retinal pigment epithelium, and choroid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268249)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268249)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268249)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268249)
- Eyelid coloboma (HP:0000625): A short discontinuity of the margin of the lower or upper eyelid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268249)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268249)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268249)
- Agenesis of corpus callosum (HP:0001274): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268249)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268249)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268249)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268249)
- Hypoplastic toenails (HP:0001800): Underdevelopment of the toenail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268249)
- Foot polydactyly (HP:0001829): A kind of polydactyly characterized by the presence of a supernumerary toe or toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268249)
- Tessier cleft (HP:0002006): A congenital malformation with a cleft (gap or opening) in the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268249)
- Tracheoesophageal fistula (HP:0002575): An abnormal connection (fistula) between the esophagus and the trachea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268249)
- Tracheomalacia (HP:0002779). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268249)
- Short palm (HP:0004279): Short palm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268249)
- Bifid thoracic vertebrae (HP:0008437). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268249)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:268249)
- Anotia (HP:0009892): Complete absence of any auricular structures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:268249)
- Bifid nose (HP:0011803): Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268249)