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Seckel syndrome 5
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene.
Uniprot Description A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.
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.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0070012
OMIM:613823
UMLS:C3151187
MONDO:0013443
High level summary of knowledge for a disease, including descriptions and datasource references.