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Marsili Syndrome

Disease ID: disease_node_15874

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DbxrefMIM:147430
SubclassofDOID_0050736, DOID_225
Data SourceDOID
Synonymscongenital analgesia, congenital insensitivity to pain
Disease Has FeatureDOID_0060145
Doid LabelMarsili syndrome
Doid DescriptionA syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_15874
Doid IdDOID_0081075
LabelMarsili Syndrome