respiratory system disorder partial deletion of the long arm of chromosome 16 16q24.1 microdeletion syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/16q241_microdeletion_syndrome Orphanet:352629 UMLS:C4749464 MONDO:0018127 Del(16)(q24.1) 16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects). monosomy 16q24.1 MEDGEN:1653385 GARD:0021523 obsolete_16q24.1 microdeletion syndrome