Phenotypes associated with the disease Hirschsprung disease-ganglioneuroblastoma syndrome (ORPHA:2151):
- Abnormal pupil morphology (HP:0000615): An abnormality of the pupil. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2151)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2151)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2151)
- Prolonged QT interval (HP:0001657): Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2151)
- Aganglionic megacolon (HP:0002251): An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2151)
- Neoplasm of the nervous system (HP:0004375): A tumor (abnormal growth of tissue) of the nervous system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2151)
- Ganglioneuroblastoma (HP:0006747). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2151)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2151)