{
    "disease_id": "DOID:0090123",
    "recommended_name": {
        "id": "DOID:0090123",
        "resource": "Disease Ontology",
        "url": "https://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": "https://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": "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": "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090123"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090123",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090123",
            "categories": []
        },
        {
            "id": "MONDO:0012084",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012084",
            "categories": []
        },
        {
            "id": "MIM:608643",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608643",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O88533-1",
            "uniprot_ac": "O88533",
            "uniprot_id": "DDC_MOUSE",
            "refseq_ac": "NP_001177377",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aromatic-L-amino-acid decarboxylase",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.28",
                    "type": "synonym"
                },
                {
                    "name": "AADC",
                    "type": "synonym"
                },
                {
                    "name": "DDC",
                    "type": "synonym"
                },
                {
                    "name": "DOPA decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "aromatic-L-amino-acid decarboxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddc",
                    "type": "recommended"
                },
                {
                    "name": "Aadc",
                    "type": "synonym"
                },
                {
                    "name": "Ddc",
                    "type": "synonym"
                }
            ],
            "record_id": "O88533-1",
            "evidence": [
                {
                    "id": "0090123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20711-1",
            "uniprot_ac": "P20711",
            "uniprot_id": "DDC_HUMAN",
            "refseq_ac": "NP_001229815",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aromatic-L-amino-acid decarboxylase",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.28",
                    "type": "synonym"
                },
                {
                    "name": "AADC",
                    "type": "synonym"
                },
                {
                    "name": "DDC",
                    "type": "synonym"
                },
                {
                    "name": "DOPA decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "aromatic-L-amino-acid decarboxylase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "aromatic-L-amino-acid decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "dopa decarboxylase (aromatic L-amino acid decarboxylase)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDC",
                    "type": "recommended"
                },
                {
                    "name": "AADC",
                    "type": "synonym"
                },
                {
                    "name": "DDC",
                    "type": "synonym"
                }
            ],
            "record_id": "P20711-1",
            "evidence": [
                {
                    "id": "608643",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608643"
                },
                {
                    "id": "0090123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14173-1",
            "uniprot_ac": "P14173",
            "uniprot_id": "DDC_RAT",
            "refseq_ac": "NP_001257781",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aromatic-L-amino-acid decarboxylase",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.28",
                    "type": "synonym"
                },
                {
                    "name": "AADC",
                    "type": "synonym"
                },
                {
                    "name": "DDC",
                    "type": "synonym"
                },
                {
                    "name": "DOPA decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "L-Dopa decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "aromatic-L-amino-acid decarboxylase isoform a",
                    "type": "synonym"
                },
                {
                    "name": "aromatic-L-amino-acid decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "dopa decarboxylase (aromatic L-amino acid decarboxylase)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddc",
                    "type": "recommended"
                },
                {
                    "name": "AADC",
                    "type": "synonym"
                },
                {
                    "name": "Ddc",
                    "type": "synonym"
                }
            ],
            "record_id": "P14173-1",
            "evidence": [
                {
                    "id": "0090123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13255-1",
            "uniprot_ac": "P13255",
            "uniprot_id": "GNMT_RAT",
            "refseq_ac": "NP_058780",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine N-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.20",
                    "type": "synonym"
                },
                {
                    "name": "Folate-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "folate-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "glycine N-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glycine methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnmt",
                    "type": "recommended"
                },
                {
                    "name": "Fbp-cII",
                    "type": "synonym"
                },
                {
                    "name": "Gnmt",
                    "type": "synonym"
                }
            ],
            "record_id": "P13255-1",
            "evidence": [
                {
                    "id": "0090123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05031-1",
            "uniprot_ac": "P05031",
            "uniprot_id": "DDC_DROME",
            "refseq_ac": "NP_523600",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aromatic-L-amino-acid decarboxylase",
                    "type": "recommended"
                },
                {
                    "name": "3,4-Dihydroxyphenylalanine decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "4.1.1.28",
                    "type": "synonym"
                },
                {
                    "name": "AADC",
                    "type": "synonym"
                },
                {
                    "name": "CG10697-PD",
                    "type": "synonym"
                },
                {
                    "name": "DDC",
                    "type": "synonym"
                },
                {
                    "name": "DOPA decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "Ddc-PD",
                    "type": "synonym"
                },
                {
                    "name": "L-3,4-dihydroxyphenylalanine decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "L-dopa decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "aromatic L-amino acid decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "aromatic amino acid decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "dopa decarboxylase, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "dopa decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "dopa-decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "dopadecarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "dopamine decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "transcription unit No. 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddc",
                    "type": "recommended"
                },
                {
                    "name": "AADC",
                    "type": "synonym"
                },
                {
                    "name": "CG10697",
                    "type": "synonym"
                },
                {
                    "name": "DDC",
                    "type": "synonym"
                },
                {
                    "name": "DdcDm",
                    "type": "synonym"
                },
                {
                    "name": "Ddc",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10697",
                    "type": "synonym"
                },
                {
                    "name": "ddc",
                    "type": "synonym"
                },
                {
                    "name": "fDDC",
                    "type": "synonym"
                },
                {
                    "name": "l(2)37Bl",
                    "type": "synonym"
                },
                {
                    "name": "l(2)37Ch",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k02104",
                    "type": "synonym"
                }
            ],
            "record_id": "P05031-1",
            "evidence": [
                {
                    "id": "0090123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18486-1",
            "uniprot_ac": "P18486",
            "uniprot_id": "DHAPP_DROME",
            "refseq_ac": "NP_476592",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3,4-dihydroxyphenylacetaldehyde synthase",
                    "type": "recommended"
                },
                {
                    "name": "3,4-dihydroxyphenylacetaldehyde synthase",
                    "type": "synonym"
                },
                {
                    "name": "4.1.1.107",
                    "type": "synonym"
                },
                {
                    "name": "AMD-r protein",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-methyldopa resistant protein",
                    "type": "synonym"
                },
                {
                    "name": "CG10501-PA",
                    "type": "synonym"
                },
                {
                    "name": "DHPA synthase",
                    "type": "synonym"
                },
                {
                    "name": "DHPAA synthase",
                    "type": "synonym"
                },
                {
                    "name": "DOPAL synthase",
                    "type": "synonym"
                },
                {
                    "name": "alpha methyl dopa-resistant, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "alpha methyl dopa",
                    "type": "synonym"
                },
                {
                    "name": "alpha-methotrexate deficient",
                    "type": "synonym"
                },
                {
                    "name": "alpha-methyl dopa resistant",
                    "type": "synonym"
                },
                {
                    "name": "amd-PA",
                    "type": "synonym"
                },
                {
                    "name": "dopa decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "transcription unit No. 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "amd",
                    "type": "recommended"
                },
                {
                    "name": "AMD-r",
                    "type": "synonym"
                },
                {
                    "name": "CG10501",
                    "type": "synonym"
                },
                {
                    "name": "CG17345",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10501",
                    "type": "synonym"
                },
                {
                    "name": "X04695",
                    "type": "synonym"
                },
                {
                    "name": "amd",
                    "type": "synonym"
                },
                {
                    "name": "fAMD",
                    "type": "synonym"
                },
                {
                    "name": "l(2)37Bk",
                    "type": "synonym"
                },
                {
                    "name": "l(2)amd alpha-methyldopa hypersensitive",
                    "type": "synonym"
                },
                {
                    "name": "l(2)amd[H]",
                    "type": "synonym"
                },
                {
                    "name": "l(2)amd",
                    "type": "synonym"
                }
            ],
            "record_id": "P18486-1",
            "evidence": [
                {
                    "id": "0090123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13363-1",
            "uniprot_ac": "Q13363",
            "uniprot_id": "CTBP1_HUMAN",
            "refseq_ac": "NP_001012632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "C-terminal-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "C-terminal-binding protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "CtBP1",
                    "type": "synonym"
                },
                {
                    "name": "brefeldin A-ribosylated substrate",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTBP1",
                    "type": "recommended"
                },
                {
                    "name": "BARS",
                    "type": "synonym"
                },
                {
                    "name": "CTBP1",
                    "type": "synonym"
                },
                {
                    "name": "CTBP",
                    "type": "synonym"
                },
                {
                    "name": "HADDTS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13363-1",
            "evidence": [
                {
                    "id": "0090123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090123"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090123"
}