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Summary Literature (0)
DOID:0090123 - aromatic L-amino acid decarboxylase deficiency


Disease Ontology Definition:An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12.

Synonyms: AADC deficiency

In OMIM:
OMIM:608643 - AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

In Mondo Disease Ontology:
MONDO:0012084 - aromatic L-amino acid decarboxylase deficiency

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : ddc

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): genetic disease (is_a), inherited metabolic disorder (is_a)