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nail-patella syndrome

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.
Uniprot Description Disease that cause abnormal skeletal patterning and renal dysplasia.
Mondo Term and Equivalent IDs
MONDO:0008061:  nail-patella syndrome
GARD:0007160: 
MESH:D009261: 
NCIT:C75120: 
Orphanet:2614: 
SCTID:22199006: 
UMLS:C0027341: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)