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McKusick-Kaufman syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.
Uniprot Description Autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects.
Mondo Term and Equivalent IDs
MONDO:0009367:  McKusick-Kaufman syndrome
DOID:0111255: 
GARD:0003427: 
MESH:C538159: 
Orphanet:2473: 
SCTID:702407009: 
UMLS:C0948368: