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Fowler syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description A rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue.
Mondo Term and Equivalent IDs
MONDO:0009168:  Fowler syndrome
DOID:0111666: 
MESH:C565593: 
Orphanet:221126: 
SCTID:700242002: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)