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Lethal congenital contracture syndrome 9
Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene. [from MONDO]
Diaphragmatic defect-limb deficiency-skull defect syndrome
Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. [from ORDO]
Abnormality of the diaphragm
Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity. [from HPO]
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