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Gapo Syndrome

Disease ID: disease_node_20225

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DbxrefMIM:230740, ORDO:2067
SubclassofDOID_225, DOID_0050737
Data SourceDOID
Synonymsgrowth delay-alopecia-pseudoanodontia-optic atrophy syndrome
Doid LabelGAPO syndrome
Doid DescriptionA syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_20225
Doid IdDOID_0112249
LabelGapo Syndrome