lethal congenital contracture syndrome 10 Disease Ontology Browser

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lethal congenital contracture syndrome 10 (DOID:0061266)
Alliance: disease page
Alt IDs: OMIM:617022
Definition: A lethal congenital contracture syndrome characterized by fetal akinesia, multiple contractures, shortening of upper and lower limbs, and narrow chest and thorax that has_material_basis_in homozygous mutation in the NEK9 gene on chromosome 14q24.

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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