{
    "disease_id": "DOID:0050602",
    "recommended_name": {
        "id": "DOID:0050602",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050602",
        "name": "triple-A syndrome",
        "description": "A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system."
    },
    "synonyms": [
        {
            "id": "DOID:0050602",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050602",
            "name": "AAAS",
            "description": ""
        },
        {
            "id": "DOID:0050602",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050602",
            "name": "Achalasia-Addisonianism-Alacrimia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050602",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050602",
            "name": "Allgrove Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "triple-A syndrome",
            "description": "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration."
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "2A syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "3A syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "4A syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "AAA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "Allgrove syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "Double A syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "achalasia-addisonianism-alacrima syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "adrenal insufficiency-achalasia-alacrima syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "quaternary A syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "triple-a syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "AAA",
            "description": ""
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "AAAS",
            "description": ""
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "Addisonian achalasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "achalasia addisonianism alacrimia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "achalasia alacrima syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "name": "triple A syndrome",
            "description": ""
        },
        {
            "id": "MIM:231550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/231550",
            "name": "Achalasia-addisonianism-alacrima syndrome",
            "description": "Achalasia-addisonianism-alacrima syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050602"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050602",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050602",
            "categories": []
        },
        {
            "id": "MONDO:0009279",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009279",
            "categories": []
        },
        {
            "id": "MIM:231550",
            "database": "MIM",
            "url": "https://www.omim.org/entry/231550",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32U053-1",
            "uniprot_ac": "A0AB32U053",
            "uniprot_id": "A0AB32U053_DANRE",
            "refseq_ac": "XP_068079439",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aladin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "aladin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "aaas",
                    "type": "recommended"
                },
                {
                    "name": "aaas",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85873",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32U053-1",
            "evidence": [
                {
                    "id": "0050602",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050602"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58742-1",
            "uniprot_ac": "P58742",
            "uniprot_id": "AAAS_MOUSE",
            "refseq_ac": "NP_700465",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aladin",
                    "type": "recommended"
                },
                {
                    "name": "Adracalin",
                    "type": "synonym"
                },
                {
                    "name": "adracalin",
                    "type": "synonym"
                },
                {
                    "name": "aladin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aaas",
                    "type": "recommended"
                },
                {
                    "name": "AAA",
                    "type": "synonym"
                },
                {
                    "name": "ADRACALA",
                    "type": "synonym"
                },
                {
                    "name": "Aaas",
                    "type": "synonym"
                },
                {
                    "name": "D030041N15Rik",
                    "type": "synonym"
                },
                {
                    "name": "GL003",
                    "type": "synonym"
                }
            ],
            "record_id": "P58742-1",
            "evidence": [
                {
                    "id": "0050602",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050602"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NRG9-1",
            "uniprot_ac": "Q9NRG9",
            "uniprot_id": "AAAS_HUMAN",
            "refseq_ac": "NP_001166937",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aladin",
                    "type": "recommended"
                },
                {
                    "name": "Adracalin",
                    "type": "synonym"
                },
                {
                    "name": "Allgrove, triple-A",
                    "type": "synonym"
                },
                {
                    "name": "achalasia, adrenocortical insufficiency, alacrimia",
                    "type": "synonym"
                },
                {
                    "name": "aladin isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AAAS",
                    "type": "recommended"
                },
                {
                    "name": "AAASb",
                    "type": "synonym"
                },
                {
                    "name": "AAAS",
                    "type": "synonym"
                },
                {
                    "name": "AAA",
                    "type": "synonym"
                },
                {
                    "name": "ADRACALA",
                    "type": "synonym"
                },
                {
                    "name": "ADRACALIN",
                    "type": "synonym"
                },
                {
                    "name": "ALADIN",
                    "type": "synonym"
                },
                {
                    "name": "GL003",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NRG9-1",
            "evidence": [
                {
                    "id": "231550",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/231550"
                },
                {
                    "id": "0050602",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050602"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZNS8-1",
            "uniprot_ac": "D3ZNS8",
            "uniprot_id": "D3ZNS8_RAT",
            "refseq_ac": "NP_001100265",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aladin",
                    "type": "recommended"
                },
                {
                    "name": "Adracalin",
                    "type": "synonym"
                },
                {
                    "name": "achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)",
                    "type": "synonym"
                },
                {
                    "name": "aladin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aaas",
                    "type": "recommended"
                },
                {
                    "name": "Aaas",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZNS8-1",
            "evidence": [
                {
                    "id": "0050602",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050602"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL33-1",
            "uniprot_ac": "Q9VL33",
            "uniprot_id": "Q9VL33_DROME",
            "refseq_ac": "NP_609350",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aladin",
                    "type": "recommended"
                },
                {
                    "name": "CG13137-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13137",
                    "type": "recommended"
                },
                {
                    "name": "CG13137",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13137",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13137",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VL33-1",
            "evidence": [
                {
                    "id": "0050602",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050602"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W351-1",
            "uniprot_ac": "Q9W351",
            "uniprot_id": "AAAS_DROME",
            "refseq_ac": "NP_001285049",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aladin",
                    "type": "recommended"
                },
                {
                    "name": "Aladin-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG16892-PB",
                    "type": "synonym"
                },
                {
                    "name": "aladin, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aladin",
                    "type": "recommended"
                },
                {
                    "name": "ALADIN",
                    "type": "synonym"
                },
                {
                    "name": "Aladin",
                    "type": "synonym"
                },
                {
                    "name": "CG16892",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG16892",
                    "type": "synonym"
                },
                {
                    "name": "aladin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W351-1",
            "evidence": [
                {
                    "id": "0050602",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050602"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050602"
}