Lungs and breathing

The lungs are the largest part of the respiratory system, which delivers oxygen to the body and removes carbon dioxide waste. Some lung conditions are caused by abnormal gene function.

• AAT see alpha-1 antitrypsin deficiency
• alpha-1 antitrypsin deficiency
• Alpha-L-iduronidase deficiency see mucopolysaccharidosis type I
• autosomal dominant Opitz syndrome (ADOS) see Opitz G/BBB syndrome
• Ayerza Syndrome see pulmonary arterial hypertension
• Bartholin-Patau syndrome see trisomy 13
• CCHS see congenital central hypoventilation syndrome
• CF see cystic fibrosis
• Classical Niemann-Pick Disease see Niemann-Pick disease
• Complete trisomy 13 syndrome see trisomy 13
• Complete trisomy 18 syndrome see trisomy 18
• congenital central hypoventilation syndrome
• cystic fibrosis
• DAF syndrome see Niemann-Pick disease
• 22q11.2 deletion syndrome see Opitz G/BBB syndrome
• Edwards Syndrome see trisomy 18
• familial primary pulmonary hypertension see pulmonary arterial hypertension
• Fibrocystic Disease of Pancreas see cystic fibrosis
• FPPH see pulmonary arterial hypertension
• genetic emphysema see alpha-1 antitrypsin deficiency
• Haddad syndrome see congenital central hypoventilation syndrome
• hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency
• Hunter Syndrome see mucopolysaccharidosis type II
• Hurler-Scheie Syndrome see mucopolysaccharidosis type I
• Hurler Syndrome see mucopolysaccharidosis type I
• hypertelorism-hypospadias sydrome see Opitz G/BBB syndrome
• hypertelorism with esophageal abnormalities and hypospadias see Opitz G/BBB syndrome
• I2S deficiency see mucopolysaccharidosis type II
• Idiopathic pulmonary hypertension see pulmonary arterial hypertension
• IDUA deficiency see mucopolysaccharidosis type I
• Iduronate 2-sulfatase deficiency see mucopolysaccharidosis type II
• inherited emphysema see alpha-1 antitrypsin deficiency
• lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease
• MPS I see mucopolysaccharidosis type I
• MPS II see mucopolysaccharidosis type II
• mucopolysaccharidosis type I
• mucopolysaccharidosis type II
• Mucoviscidosis see cystic fibrosis
• Neuronal Cholesterol Lipidosis see Niemann-Pick disease
• Niemann-Pick disease
• NPD see Niemann-Pick disease
• Ondine-Hirschsprung disease see congenital central hypoventilation syndrome
• Ondine Syndrome see congenital central hypoventilation syndrome
• Ophthalmoplegia, Supraoptic Vertical see Niemann-Pick disease
• Opitz G/BBB syndrome
• PAH see pulmonary arterial hypertension
• Patau syndrome see trisomy 13
• PPH see pulmonary arterial hypertension
• primary pulmonary hypertension see pulmonary arterial hypertension
• pulmonary arterial hypertension
• Scheie Syndrome see mucopolysaccharidosis type I
• Sphingomyelin/cholesterol lipidosis see Niemann-Pick disease
• Sphingomyelin lipidosis see Niemann-Pick disease
• Sphingomyelinase deficiency see Niemann-Pick disease
• sporadic primary pulmonary hypertension see pulmonary arterial hypertension
• tetra-amelia syndrome
• trisomy 13
• trisomy 18
• X-linked Opitz syndrome (XLOS) see Opitz G/BBB syndrome