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grange syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.
Uniprot Description An autosomal recessive syndrome of stenosis or occlusion of multiple arteries, including renal, abdominal, cerebral and probably coronary arteries, congenital heart defects, brachydactyly, syndactyly, bone fragility, and learning disabilities.
Mondo Term and Equivalent IDs
MONDO:0011243:  grange syndrome
MESH:C566529: 
Orphanet:79094: 
SCTID:717824007: 
UMLS:C1865267: