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DOID:0050762 - adenylosuccinase lyase deficiency
Disease Ontology 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.
Synonyms:
Xenbase Genes
:
adsl
| MONDO:0007068 - adenylosuccinate lyase deficiency |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
amino acid metabolic disorder (is_a)