Disease ID | Source | Name | Description |
270420 | OMIM | Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies (DIAR3) | A disease characterized by life-threatening secretory diarrhea, severe metabolic acidosis and hyponatremia. Hyponatremia is secondary to extraordinarily high fecal sodium loss, with low or normal excretion of urinary sodium, in the absence of infectious, autoimmune and endocrine causes. The disease is caused by variants affecting the gene represented in this entry. |