lethal congenital contracture syndrome 5 Disease Ontology Browser

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lethal congenital contracture syndrome 5 (DOID:0061261)
Alliance: disease page
Alt IDs: OMIM:615368
Definition: A lethal congenital contracture syndrome characterized by decreased fetal movements, joint contractures, hypotonia, skeletal abnormalities with thin bones, and brain and retinal hemorrhages that has_material_basis_in homozygous mutation in the DNM2 gene on chromosome 19p13.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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