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aromatic L-amino acid decarboxylase deficiency

Go to external page http://purl.obolibrary.org/obo/DOID_0090123

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. [ http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007637 url:https://www.omim.org/entry/608643 url:https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency ]

Synonyms: AADC deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:770
  • ICD10CM:E70.81
  • UMLS_CUI:C1291564
  • ORDO:35708
  • MESH:C537437
  • MIM:608643
  • NCI:C142085
  • SNOMEDCT_US_2023_03_01:124600004
Subsets

DO_rare_slim, NCIthesaurus

has obo namespace

disease_ontology

id

DOID:0090123