ONTOLOGY REPORT - ANNOTATIONS


Term:aromatic L-amino acid decarboxylase deficiency
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Accession:DOID:0090123 term browser browse the term
Definition:An inherited metabolic disorder characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction with onset in infancy or childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DDC gene on chromosome 7p12. (DO)
Synonyms:exact_synonym: AADC DEFICIENCY;   Aromatic amino acid decarboxylase deficiency;   DDC DEFICIENCY;   DEFICIENCY OF AROMATIC-L-AMINO-ACID DECARBOXYLASE;   Dopa decarboxylase deficiency
 primary_id: MESH:C537437;   RDO:0003279
 alt_id: OMIM:608643
 xref: GARD:770;   ORDO:35708
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aromatic L-amino acid decarboxylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddc dopa decarboxylase JBrowse link 14 91,905,919 91,996,816 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            aromatic L-amino acid decarboxylase deficiency 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              aromatic L-amino acid decarboxylase deficiency 1
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