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Autosomal Recessive Isolated Ectopia Lentis 2

Disease ID: disease_node_13712

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DbxrefMIM:225100
SubclassofDOID_0111148, DOID_0050737
Data SourceDOID
SynonymsECTOL2
Doid Labelautosomal recessive isolated ectopia lentis 2
Doid DescriptionAn isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_13712
Doid IdDOID_0111149
LabelAutosomal Recessive Isolated Ectopia Lentis 2