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Cei-Lenz Syndactyly Syndrome

Disease ID: disease_node_15737

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DbxrefGARD:5084, ICD10CM:Q78.4, MIM:212780, ORDO:3258
SubclassofDOID_1934
Data SourceDOID
Synonymssyndactyly type 7
Doid LabelCei-Lenz syndactyly syndrome
Doid DescriptionA dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
Disease Node Iddisease_node_15737
Doid IdDOID_0090015
LabelCei-Lenz Syndactyly Syndrome