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ring chromosome 14
Disease Summary
Associated Targets ()
Mondo Description Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.
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:0006072
MESH:C535487
OMIM:616606
Orphanet:1440
SCTID:702345009
UMLS:CN233170
MONDO:0014708
High level summary of knowledge for a disease, including descriptions and datasource references.