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Gillessen-Kaesbach-Nishimura syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A rare autosomal recessive syndrome characterized by severe skeletal dysplasia, facial dysmorphic features, polycystic kidney disease and other visceral malformations. It may be lethal in utero or early in life. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine.
Mondo Term and Equivalent IDs
MONDO:0009890:  Gillessen-Kaesbach-Nishimura syndrome
MESH:C564881: 
UMLS:C1849762: