{
    "disease_id": "DOID:0111583",
    "recommended_name": {
        "id": "DOID:0111583",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111583",
        "name": "carboxypeptidase N deficiency",
        "description": "A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111583",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111583",
            "name": "anaphylotoxin inactivator deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111583",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111583",
            "name": "deficiency of carboxypeptidase B",
            "description": ""
        },
        {
            "id": "MONDO:0008910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008910",
            "name": "carboxypeptidase N deficiency",
            "description": "An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity."
        },
        {
            "id": "MONDO:0008910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008910",
            "name": "carboxypeptidase N deficiency",
            "description": ""
        },
        {
            "id": "MIM:212070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/212070",
            "name": "Carboxypeptidase N deficiency",
            "description": "Carboxypeptidase N deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111583"
    ],
    "unlinked_id_list": []
}