C	C131011	Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation	Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome	ROHHAD	A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin.	A syndrome of unknown etiology characterized by hypothalamic dysfunction with hyperphagia, inability to maintain normal water balance, growth hormone deficiency, hypothyroidism, early or late puberty, increased prolactin concentration, hypoventilation, and autonomic dysfunction.	C28193	Syndrome			C118467	Pediatric Endocrine Terminology		
C	C123018	Renal Cysts and Diabetes Syndrome	Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes	RCAD Syndrome|Renal Cysts and Diabetes Syndrome|RCAD	Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1B, encoding hepatocyte nuclear factor 1-beta. In addition to diabetes, this condition may be associated with renal cysts and urogenital anomalies. Homozygous HNF1B mutations result in permanent neonatal diabetes.	Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1B, encoding hepatocyte nuclear factor 1-beta. In addition to diabetes, this condition may be associated with renal cysts and urogenital anomalies. Homozygous HNF1B mutations result in permanent neonatal diabetes.	C129739	Monogenic Diabetes	C28193	Syndrome	C118467	Pediatric Endocrine Terminology		Maturity Onset Diabetes of the Young, Type 5