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Leber Congenital Amaurosis

Disease ID: disease_node_12393

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DbxrefGARD:634, MESH:D057130, MIM:PS204000, NCI:C129075, ORDO:65, SNOMEDCT_US_2023_03_01:193413001, UMLS_CUI:C0339527
SubclassofDOID_0080015, DOID_5679
Data SourceDOID, MESH
SynonymsLCA, Leber's amaurosis, Leber's congenital amaurosis, Leber's disease
Mesh IdD057130
Mesh LabelLeber Congenital Amaurosis
Mesh SubclassofD012164, D015785
Doid LabelLeber congenital amaurosis
Doid DescriptionA retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. Xref MGI. OMIM mapping confirmed by DO. [SN].
Disease Node Iddisease_node_12393
Doid IdDOID_14791
Disease Has Basis InHP_0001197
LabelLeber Congenital Amaurosis