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3M syndrome 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.
Uniprot Description An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.
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.
MESH:C567862
OMIM:612921
UMLS:C2752041
MONDO:0013039
High level summary of knowledge for a disease, including descriptions and datasource references.