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Autosomal Domit Craniometaphyseal Dysplasia

Disease ID: disease_node_19044

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DbxrefMIM:123000
SubclassofDOID_0050736, DOID_0080033
Data SourceDOID
Doid Labelautosomal domit craniometaphyseal dysplasia
Doid DescriptionA craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_19044
Doid IdDOID_0080801
LabelAutosomal Domit Craniometaphyseal Dysplasia