OBO ID: DOID:0090123
Term Name: aromatic L-amino acid decarboxylase deficiency Search Ontology:
Synonyms:
  • AADC 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. (2)
References:
  • GARD:770
  • ICD10CM:E70.81
  • MESH:C537437
  • NCI:C142085
  • OMIM:608643
  • ORDO:35708
  • SNOMEDCT_US_2023_03_01:124600004
  • UMLS_CUI:C1291564
Ontology: Human Disease   ( DOID:0090123 )
Relationships
is a type of:
OTHER aromatic L-amino acid decarboxylase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DDC Aromatic L-amino acid decarboxylase deficiency 608643
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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