fetal akinesia deformation sequence syndrome 1 Disease Ontology Browser

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fetal akinesia deformation sequence syndrome 1 (DOID:0111377)
Alliance: disease page
Synonyms: FADS1
Alt IDs: OMIM:208150
Definition: A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3.

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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