{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0111583",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111583",
            "categories": []
        },
        {
            "id": "MONDO:0008910",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008910",
            "categories": []
        },
        {
            "id": "MIM:212070",
            "database": "MIM",
            "url": "https://www.omim.org/entry/212070",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JJN5-1",
            "uniprot_ac": "Q9JJN5",
            "uniprot_id": "CBPN_MOUSE",
            "refseq_ac": "NP_109628",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carboxypeptidase N catalytic chain",
                    "type": "recommended"
                },
                {
                    "name": "3.4.17.3",
                    "type": "synonym"
                },
                {
                    "name": "CPN",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase N polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase N small subunit",
                    "type": "synonym"
                },
                {
                    "name": "anaphylatoxin inactivator",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase N catalytic chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase N catalytic chain",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase N small subunit",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase N, polypeptide 1, 50kD",
                    "type": "synonym"
                },
                {
                    "name": "kininase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cpn1",
                    "type": "recommended"
                },
                {
                    "name": "0610011F20Rik",
                    "type": "synonym"
                },
                {
                    "name": "CPN",
                    "type": "synonym"
                },
                {
                    "name": "Cpn1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJN5-1",
            "evidence": [
                {
                    "id": "0111583",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111583"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15169-1",
            "uniprot_ac": "P15169",
            "uniprot_id": "CBPN_HUMAN",
            "refseq_ac": "NP_001299",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carboxypeptidase N catalytic chain",
                    "type": "recommended"
                },
                {
                    "name": "3.4.17.3",
                    "type": "synonym"
                },
                {
                    "name": "Anaphylatoxin inactivator",
                    "type": "synonym"
                },
                {
                    "name": "Arginine carboxypeptidase",
                    "type": "synonym"
                },
                {
                    "name": "CPN",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase N polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase N small subunit",
                    "type": "synonym"
                },
                {
                    "name": "Kininase-1",
                    "type": "synonym"
                },
                {
                    "name": "Lysine carboxypeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Plasma carboxypeptidase B",
                    "type": "synonym"
                },
                {
                    "name": "SCPN",
                    "type": "synonym"
                },
                {
                    "name": "Serum carboxypeptidase N",
                    "type": "synonym"
                },
                {
                    "name": "anaphylatoxin inactivator",
                    "type": "synonym"
                },
                {
                    "name": "arginine carboxypeptidase",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase K",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase N catalytic chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase N catalytic chain",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase N catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase N polypeptide 1 50 kD",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase N small subunit",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase N, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "kininase I",
                    "type": "synonym"
                },
                {
                    "name": "kininase-1",
                    "type": "synonym"
                },
                {
                    "name": "lysine carboxypeptidase",
                    "type": "synonym"
                },
                {
                    "name": "plasma carboxypeptidase B",
                    "type": "synonym"
                },
                {
                    "name": "serum carboxypeptidase N",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPN1",
                    "type": "recommended"
                },
                {
                    "name": "ACBP",
                    "type": "synonym"
                },
                {
                    "name": "CPN1",
                    "type": "synonym"
                },
                {
                    "name": "CPN",
                    "type": "synonym"
                },
                {
                    "name": "SCPN",
                    "type": "synonym"
                }
            ],
            "record_id": "P15169-1",
            "evidence": [
                {
                    "id": "212070",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/212070"
                },
                {
                    "id": "0111583",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111583"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EQV8-1",
            "uniprot_ac": "Q9EQV8",
            "uniprot_id": "CBPN_RAT",
            "refseq_ac": "NP_445978",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carboxypeptidase N catalytic chain",
                    "type": "recommended"
                },
                {
                    "name": "3.4.17.3",
                    "type": "synonym"
                },
                {
                    "name": "CPN",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase N polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase N small subunit",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase N catalytic chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase N catalytic chain-like",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase N catalytic chain",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase N small subunit",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase N, polypeptide 1, 50kD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cpn1",
                    "type": "recommended"
                },
                {
                    "name": "Cpn1",
                    "type": "synonym"
                },
                {
                    "name": "Cpn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQV8-1",
            "evidence": [
                {
                    "id": "0111583",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111583"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V8U0-1",
            "uniprot_ac": "G3V8U0",
            "uniprot_id": "G3V8U0_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell differentiation antigen CD6",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd6",
                    "type": "recommended"
                }
            ],
            "record_id": "G3V8U0-1",
            "evidence": [
                {
                    "id": "0111583",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111583"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111583"
}