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Knobloch syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.
Uniprot Description A developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia.
Mondo Term and Equivalent IDs
MONDO:0009977:  Knobloch syndrome
GARD:0000380: 
MESH:C537209: 
Orphanet:1571: 
SCTID:703542000: 
UMLS:C1849409: