FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term adenylosuccinase lyase deficiency ID (Ontology) DOID:0050762 (Human Disease)
Definition An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency.
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 Genes
 adenylosuccinase lyase deficiency       1
 for disease ribbon | adenylosuccinase lyase deficiency       1
 model of | adenylosuccinase lyase deficiency       1
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  inherited metabolic disorder
   |__amino acid metabolic disorder
       |__adenylosuccinase lyase deficiency  1 rec.
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Is a amino acid metabolic disorder
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GARD:550
MIM:103050