{
    "disease_id": "DOID:13372",
    "recommended_name": {
        "id": "DOID:13372",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:13372",
        "name": "alpha 1-antitrypsin deficiency",
        "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells."
    },
    "synonyms": [
        {
            "id": "DOID:13372",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:13372",
            "name": "AAT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013282",
            "name": "alpha 1-antitrypsin deficiency",
            "description": "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis."
        },
        {
            "id": "MONDO:0013282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013282",
            "name": "alpha-1-antitrypsin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013282",
            "name": "Alpha-1 antitrypsin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013282",
            "name": "A1AT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013282",
            "name": "A1ATD",
            "description": ""
        },
        {
            "id": "MONDO:0013282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013282",
            "name": "A-1ATD",
            "description": ""
        },
        {
            "id": "MONDO:0013282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013282",
            "name": "AATD",
            "description": ""
        },
        {
            "id": "MONDO:0013282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013282",
            "name": "AAT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013282",
            "name": "ALPHA-1-antitrypsin deficiency; A1ATD",
            "description": ""
        },
        {
            "id": "MONDO:0013282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013282",
            "name": "A1AD",
            "description": ""
        },
        {
            "id": "MONDO:0013282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013282",
            "name": "deficiency in Alpa-1-proteinase inhibitor",
            "description": ""
        },
        {
            "id": "MONDO:0013282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013282",
            "name": "Alpha 1 antitrypsin deficiency",
            "description": ""
        },
        {
            "id": "MIM:613490",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613490",
            "name": "Alpha-1-antitrypsin deficiency",
            "description": "Alpha-1-antitrypsin deficiency"
        }
    ]
}