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Autosomal Recessive Cutis Laxa Type Iia

Disease ID: disease_node_17137

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DbxrefICD10CM:Q82.8, MIM:219200
SubclassofDOID_0070141
Data SourceDOID
SynonymsARCL2A
Doid Labelautosomal recessive cutis laxa type IIA
Doid DescriptionAn autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.
Disease Node Iddisease_node_17137
Doid IdDOID_0070134
LabelAutosomal Recessive Cutis Laxa Type Iia