aromatic L-amino acid decarboxylase deficiency

Summary

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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ddc

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012084 - aromatic L-amino acid decarboxylase deficiency

MONDO:0012084 - aromatic L-amino acid decarboxylase deficiency

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): genetic disease (is_a), inherited metabolic disorder (is_a)