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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.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C564881
OMIM:263210
UMLS:C1849762
MONDO:0009890
High level summary of knowledge for a disease, including descriptions and datasource references.