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Hypomyelinating Leukodystrophy 24

Disease ID: disease_node_19927

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DbxrefMIM:619851
SubclassofDOID_0060786, DOID_0050736
Data SourceDOID
SynonymsHLD24
Doid Labelhypomyelinating leukodystrophy 24
Doid DescriptionA hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_19927
Doid IdDOID_0070406
LabelHypomyelinating Leukodystrophy 24