{
    "disease_id": "DOID:0090123",
    "recommended_name": {
        "id": "DOID:0090123",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090123",
        "name": "aromatic L-amino acid decarboxylase deficiency",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "DOID:0090123",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090123",
            "name": "AADC deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012084",
            "name": "aromatic L-amino acid decarboxylase deficiency",
            "description": "Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction."
        },
        {
            "id": "MONDO:0012084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012084",
            "name": "DDC deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012084",
            "name": "Dopa decarboxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012084",
            "name": "AADC deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012084",
            "name": "aromatic L-amino acid decarboxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012084",
            "name": "aromatic L-amino-acid decarboxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012084",
            "name": "aromatic amino acid decarboxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012084",
            "name": "Aadc deficiency",
            "description": ""
        },
        {
            "id": "MIM:608643",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608643",
            "name": "Aromatic L-amino-acid decarboxylase deficiency",
            "description": "Aromatic L-amino-acid decarboxylase deficiency"
        }
    ]
}