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Hepatolenticular Degeneration

Disease ID: disease_node_3914

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DbxrefGARD:7893, ICD10CM:E83.01, MESH:D006527, MIM:277900, NCI:C84756, SNOMEDCT_US_2023_03_01:88518009, UMLS_CUI:C0019202
SubclassofDOID_896
Data SourceDOID, MESH
SynonymsCerebral pseudosclerosis, Westphal pseudosclerosis, Westphal-Strumpell syndrome, Wilson's disease, hepatolenticular degeneration
Mesh IdD006527
Mesh LabelHepatolenticular Degeneration
Mesh SubclassofD008664, D008107, D009069, D020739, D020271, D001480
Doid LabelWilson disease
Doid DescriptionA metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. OMIM mapping confirmed by DO. [SN].
Disease Node Iddisease_node_3914
Doid IdDOID_893
LabelHepatolenticular Degeneration