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night blindness-skeletal anomalies-dysmorphism syndrome
Disease Summary
Associated Targets ()
Mondo Description This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).
Mondo Term and Equivalent IDs
MONDO:0015326: night blindness-skeletal anomalies-dysmorphism syndrome
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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.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0003994
Orphanet:1390
UMLS:CN199356
MONDO:0015326
High level summary of knowledge for a disease, including descriptions and datasource references.