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Seckel syndrome 9
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.
Uniprot Description A form of Seckel syndrome, 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:0070005
OMIM:616777
UMLS:C4225212
MONDO:0014767
High level summary of knowledge for a disease, including descriptions and datasource references.