Genetic Diseases & Conditions - 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
Ayerza Syndrome see primary pulmonary hypertension
Bartholin-Patau syndrome see trisomy 13
CF see cystic fibrosis
Chromosomal imbalance syndrome, pair 13, trisomy see trisomy 13
Chromosomal imbalance syndrome, pair 18, trisomy see trisomy 18
chromosome 13 trisomy syndrome see trisomy 13
Classical Niemann-Pick Disease see Niemann-Pick disease
Complete trisomy 13 syndrome see trisomy 13
Complete trisomy 18 syndrome see trisomy 18
cystic fibrosis
D1 Trisomy see trisomy 13
DAF syndrome see Niemann-Pick disease
E3 Trisomy see trisomy 18
Edwards Syndrome see trisomy 18
familial primary pulmonary hypertension (FPPH) see primary pulmonary hypertension
Fibrocystic Disease of Pancreas see cystic fibrosis
genetic emphysema see alpha-1 antitrypsin deficiency
hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency
Idiopathic pulmonary hypertension see primary pulmonary hypertension
inherited emphysema see alpha-1 antitrypsin deficiency
lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease
Mucoviscidosis see cystic fibrosis
neuroneal Cholesterol Lipidosis see Niemann-Pick disease
Niemann-Pick disease
NPD see Niemann-Pick disease
Ophthalmoplegia, Supraoptic Vertical see Niemann-Pick disease
Patau syndrome see trisomy 13
PPH see primary pulmonary hypertension
primary pulmonary hypertension
pulmonary arterial hypertension see primary pulmonary hypertension
Sphingomyelin/cholesterol lipidosis see Niemann-Pick disease
Sphingomyelin lipidosis see Niemann-Pick disease
Sphingomyelinase deficiency see Niemann-Pick disease
sporadic primary pulmonary hypertension see primary pulmonary hypertension
trisomy 13
trisomy 18

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