D	C122821	Elevated Alkaline Phosphatase	Elevated Alkaline Phosphatase		An elevated concentration of alkaline phosphatase in the blood.	An elevated concentration of alkaline phosphatase in the blood.	C36292	Laboratory Test Result			C90259	Pediatric Terminology		
D	C129719	47,XYY Syndrome	47,XYY Syndrome	47,XYY|XYY Syndrome	A condition caused by the presence of an extra Y chromosome resulting in 47,XYY karyotype in an individual with male phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language. Testicular function and size are normal.	A condition caused by the presence of an extra Y chromosome resulting in 47,XYY karyotype in an individual with male phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language. Testicular function and size are normal.	C28193	Syndrome			C90259	Pediatric Terminology		
D	C129743	Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes	Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes	RCAD|Renal Cysts and Diabetes Syndrome	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			C90259	Pediatric Terminology		Maturity Onset Diabetes of the Young, Type 5
D	C130999	Pearson Syndrome	Pearson Syndrome	Pearson Marrow-Pancreas Syndrome	The most severe syndrome in the spectrum of single, large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs), usually presenting shortly after birth with sideroblastic anemia. The condition is often associated with exocrine pancreas insufficiency and multi-system dysfunction including diabetes mellitus, cortisol deficiency, hypothyroidism, hypoparathyroidism, and growth hormone deficiency. Commonly associated clinical findings include the following: failure to thrive, hypotonia, ptosis, ophthalmoparesis, and renal disease.	The most severe syndrome in the spectrum of single, large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs), usually presenting shortly after birth with sideroblastic anemia. The condition is often associated with exocrine pancreas insufficiency and multi-system dysfunction including diabetes mellitus, cortisol deficiency, hypothyroidism, hypoparathyroidism, and growth hormone deficiency. Commonly associated clinical findings include the following: failure to thrive, hypotonia, ptosis, ophthalmoparesis, and renal disease.	C28193	Syndrome			C90259	Pediatric Terminology		
D	C131011	Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome	Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome	ROHHAD	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.	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			C90259	Pediatric Terminology		
D	C131858	Hypogonadotropic Hypogonadism with Anosmia	Hypogonadotropic Hypogonadism with Anosmia		Hypogonadotropic hypogonadism in association with an impaired sense of smell.	Hypogonadotropic hypogonadism in association with an impaired sense of smell.	C9227	Hypogonadism			C90259	Pediatric Terminology		
A	C35607	Blood Alkaline Phosphatase Increased	Elevated Serum Alkaline Phosphatase		A laboratory test result which indicates an increased level of alkaline phosphatase in a biological specimen.	An elevated concentration of alkaline phosphatase in the blood.	C36292	Laboratory Test Result			C90259	Pediatric Terminology		
A	C121944	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			C90259	Pediatric Terminology