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Ogden Syndrome

Disease ID: disease_node_19687

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DbxrefMIM:300855, ORDO:276432
SubclassofDOID_225, DOID_0050735
Data SourceDOID
SynonymsN-alpha-acetyltransferase, N-terminal acetyltransferase deficiency, OGDNS, X-linked Malformation and Infantile Lethality Syndrome
Doid LabelOgden syndrome
Doid DescriptionA syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked domit mutation in the NAA10 gene on chromosome Xq28.
Has Material Basis InGENO_0000936
Disease Node Iddisease_node_19687
Doid IdDOID_0050781
LabelOgden Syndrome