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Items: 3

1.

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]

MedGen UID:
903881
Concept ID:
C4225303
Disease or Syndrome
2.

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]

MedGen UID:
371377
Concept ID:
C1832668
Disease or Syndrome
3.

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]

MedGen UID:
338566
Concept ID:
C1848873
Anatomical Abnormality; Finding
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