disease arises from structure disease arises from alteration in structure 16q24.1 (Human) syndrome caused by partial chromosomal deletion 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 UMLS:C4749464 MONDO:0018127 GARD:0021523 Orphanet:352629 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