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Holoprosencephaly 13, X-Linked

Disease ID: disease_node_13586

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DbxrefMIM:301043
SubclassofDOID_0080012, DOID_0080009, DOID_4621
Data SourceDOID
Doid LabelHoloprosencephaly 13, X-linked
Doid DescriptionA holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25.
Has Material Basis InGENO_0000149, GENO_0000146
Disease Node Iddisease_node_13586
Doid IdDOID_0060954
LabelHoloprosencephaly 13, X-Linked