| Metadata | |
|---|---|
| ID | DOID:0090123 |
| Name | aromatic L-amino acid decarboxylase deficiency |
| 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. https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency, https://www.omim.org/entry/608643 |
| Xrefs |
SNOMEDCT_US_2023_03_01:124600004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
AADC deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some ptosis disease has basis in some structural_variant |