C	C101050	Aortopulmonary Window	Aortopulmonary Window		A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery.		C84482	Congenital Septal Defect			C90259	Pediatric Terminology			
C	C123018	Renal Cysts and Diabetes Syndrome|Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes	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	C90259	Pediatric Terminology		Maturity Onset Diabetes of the Young, Type 5	
C	C75479	Hypogonadotropic Hypogonadism with Anosmia	Hypogonadotropic Hypogonadism with Anosmia	Kallmann Syndrome	An X-linked or autosomal dominant genetic syndrome characterized by hypogonadotropic hypogonadism and anosmia.	An X-linked or autosomal dominant syndrome due to mutation(s) in a number of genes, including FGFR1 (encoding fibroblast growth factor receptor 1), KAL1 (encoding anosmin-1), PROKR2 (encoding prokineticin receptor-2), CDH7 (encoding chromodomain helicase DNA binding protein 7), and FGF8 (encoding fibroblast growth factor 8). This condition is characterized by an impaired sense of smell and a deficiency of gonadotropin-releasing hormone, resulting in hypogonadotropic hypogonadism. Additional features may include cleft lip or palate, unilateral kidney dysgenesis, and synkinesia.	C28193	Syndrome	C9227	Hypogonadism	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	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	C115326	Pearson Syndrome	Pearson Syndrome	Pearson Marrow-Pancreas Syndrome	A rare syndrome with poor prognosis caused by single, large deletions of mitochondrial DNA.  It usually presents in infancy with bone marrow failure, anemia, neutropenia, thrombocytopenia, vacuolation of the hematopoietic precursor cells, lactic acidosis, and fibrosis and acinar atrophy of the pancreas that results in malabsorption and chronic diarrhea.  Approximately half of the patients die in infancy or early childhood.|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			
A	C85237	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