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NPHP3-related Meckel-like syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Disease Ontology Description A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of NPHP3 on chromosome 3q22.1.
Mondo Term and Equivalent IDs
MONDO:0009966:  NPHP3-related Meckel-like syndrome
GARD:0004665: 
MESH:C537756: 
Orphanet:3032: 
UMLS:C2673885: