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Autosomal Recessive Cutis Laxa Type Iic

Disease ID: disease_node_17136

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DbxrefICD10CM:Q82.8, MIM:617402
SubclassofDOID_0070141
Data SourceDOID
Doid Labelautosomal recessive cutis laxa type IIC
Doid DescriptionAn autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.
Disease Node Iddisease_node_17136
Doid IdDOID_0070140
LabelAutosomal Recessive Cutis Laxa Type Iic