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Seckel syndrome 4
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ 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.
Disease Ontology Description A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12.
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.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0070010
OMIM:613676
UMLS:C3888212
MONDO:0013358
High level summary of knowledge for a disease, including descriptions and datasource references.