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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:aromatic L-amino acid decarboxylase deficiency
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Accession:DOID:0090123 term browser browse the term
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. (DO)
Synonyms:exact_synonym: AADC deficiency;   AADCD;   DDC deficiency;   DOPA decarboxylase deficiency;   aromatic amino acid decarboxylase deficiency;   deficiency of aromatic-L-amino-acid decarboxylase
 primary_id: MESH:C537437
 alt_id: OMIM:608643
 xref: GARD:770;   ICD10CM:E70.81;   NCI:C142085;   ORDO:35708

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Path 1
Term Annotations click to browse term
  disease 17472
    Nutritional and Metabolic Diseases 7083
      disease of metabolism 7083
        inherited metabolic disorder 5446
          amino acid metabolic disorder 1514
            aromatic L-amino acid decarboxylase deficiency 1
Path 2
Term Annotations click to browse term
  disease 17472
    Developmental Disease 17376
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17311
        genetic disease 17297
          inherited metabolic disorder 5446
            amino acid metabolic disorder 1514
              aromatic L-amino acid decarboxylase deficiency 1
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