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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;   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:15079002, PMID:17240182, PMID:17533144, PMID:20505134, PMID:22143761, PMID:23321058, PMID:23430870, PMID:24865461, PMID:25001633, PMID:25741868, PMID:28492532, PMID:28856607, PMID:28973165, PMID:29851841, PMID:31104889 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 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            aromatic L-amino acid decarboxylase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            amino acid metabolic disorder 433
              aromatic L-amino acid decarboxylase deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.