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Fetal Akinesia Deformation Sequence Syndrome 2

Disease ID: disease_node_19102

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DbxrefMIM:618388
SubclassofDOID_0111375, DOID_0050737
Data SourceDOID
SynonymsFADS2
Doid Labelfetal akinesia deformation sequence syndrome 2
Doid DescriptionA fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_19102
Doid IdDOID_0111378
LabelFetal Akinesia Deformation Sequence Syndrome 2