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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0000380
MESH:C537209
OMIM:267750
Orphanet:1571
SCTID:703542000
UMLS:C1849409
MONDO:0009977
High level summary of knowledge for a disease, including descriptions and datasource references.