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Metadata
ID	DOID:0090123
Name	aromatic L-amino acid decarboxylase deficiency
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. https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency, https://www.omim.org/entry/608643
Xrefs	GARD:770 ICD10CM:E70.81 MESH:C537437 NCI:C142085 OMIM:608643 ORDO:35708 SNOMEDCT_US_2023_03_01:124600004 UMLS_CUI:C1291564
Subsets	DO_rare_slim NCIthesaurus
Synonyms	AADC deficiency [EXACT]
Parent Relationships	is_a inherited metabolic disorder