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Congenital Fibrosis Of The Extraocular Muscles 5

Disease ID: disease_node_20098

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DbxrefMIM:616219
SubclassofDOID_0050737, DOID_0080143
Data SourceDOID
Doid Labelcongenital fibrosis of the extraocular muscles 5
Doid DescriptionA congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_20098
Doid IdDOID_0081020
LabelCongenital Fibrosis Of The Extraocular Muscles 5