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Deafness-Intellectual Disability, Martin-Probst Type Syndrome

Disease ID: disease_node_19234

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DbxrefICD10CM:Q87.8, MIM:300519, ORDO:85321
SubclassofDOID_0060309
Data SourceDOID
SynonymsMartin-Probst syndrome, mental retardation, X-linked, syndromic, Martin-Probst type
Doid Labeldeafness-intellectual disability, Martin-Probst type syndrome
Doid DescriptionA syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome.
Disease Node Iddisease_node_19234
Doid IdDOID_0060830
LabelDeafness-Intellectual Disability, Martin-Probst Type Syndrome