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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;   DDC deficiency;   DEFICIENCY OF AROMATIC-L-AMINO-ACID DECARBOXYLASE;   DOPA decarboxylase deficiency;   aromatic amino acid decarboxylase deficiency
 primary_id: MESH:C537437
 alt_id: OMIM:608643
 xref: GARD:770;   ICD10CM:E70.81;   NCI:C142085;   ORDO:35708
For additional species annotation, visit the Alliance of Genome Resources.


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aromatic L-amino acid decarboxylase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddc dopa decarboxylase ISO ClinVar Annotator: match by term: Deficiency of aromatic-L-amino-acid decarboxylase OMIM
ClinVar
PMID:1357595 PMID:9536098 PMID:15079002 PMID:17240182 PMID:17533144 PMID:17576681 PMID:20505134 PMID:22143761 PMID:23321058 PMID:23430870 PMID:24865461 PMID:25001633 PMID:25741868 PMID:28492532 PMID:28856607 PMID:28973165 PMID:29851841 PMID:30952622 PMID:31104889 PMID:31918669 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          amino acid metabolic disorder 448
            aromatic L-amino acid decarboxylase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            amino acid metabolic disorder 448
              aromatic L-amino acid decarboxylase deficiency 1
paths to the root