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Meckel Syndrome 4

Disease ID: disease_node_14688

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DbxrefICD10CM:Q61.9, MIM:611134
SubclassofDOID_0050778
Data SourceDOID
SynonymsMKS4, Meckel-Gruber syndrome, type 4
Doid LabelMeckel syndrome 4
Doid DescriptionA Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32.
Disease Node Iddisease_node_14688
Doid IdDOID_0070118
LabelMeckel Syndrome 4