{
    "disease_id": "DOID:0061089",
    "recommended_name": {
        "id": "DOID:0061089",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061089",
        "name": "immunodeficiency 123",
        "description": "A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that has_material_basis_in homozygous mutation in the CD28 gene on chromosome 2q33."
    },
    "synonyms": [
        {
            "id": "DOID:0061089",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061089",
            "name": "immunodeficiency 123 with HPV-related verrucosis",
            "description": ""
        },
        {
            "id": "MONDO:0971177",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0971177",
            "name": "immunodeficiency 123 with HPV-related verrucosis",
            "description": ""
        },
        {
            "id": "MIM:620901",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620901",
            "name": "Immunodeficiency 123 with HPV-related verrucosis",
            "description": "Immunodeficiency 123 with HPV-related verrucosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061089"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061089",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061089",
            "categories": []
        },
        {
            "id": "MONDO:0971177",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0971177",
            "categories": []
        },
        {
            "id": "MIM:620901",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620901",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P31041-1",
            "uniprot_ac": "P31041",
            "uniprot_id": "CD28_MOUSE",
            "refseq_ac": "NP_031668",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell-specific surface glycoprotein CD28",
                    "type": "recommended"
                },
                {
                    "name": "T-cell-specific surface glycoprotein CD28 precursor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell-specific surface glycoprotein CD28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd28",
                    "type": "recommended"
                },
                {
                    "name": "Cd28",
                    "type": "synonym"
                }
            ],
            "record_id": "P31041-1",
            "evidence": [
                {
                    "id": "0061089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061089"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10747-1",
            "uniprot_ac": "P10747",
            "uniprot_id": "CD28_HUMAN",
            "refseq_ac": "NP_001230006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell-specific surface glycoprotein CD28",
                    "type": "recommended"
                },
                {
                    "name": "T-cell-specific surface glycoprotein CD28 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "TP44",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CD28",
                    "type": "recommended"
                },
                {
                    "name": "CD28",
                    "type": "synonym"
                },
                {
                    "name": "IMD123",
                    "type": "synonym"
                },
                {
                    "name": "Tp44",
                    "type": "synonym"
                }
            ],
            "record_id": "P10747-1",
            "evidence": [
                {
                    "id": "620901",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620901"
                },
                {
                    "id": "0061089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061089"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31042-1",
            "uniprot_ac": "P31042",
            "uniprot_id": "CD28_RAT",
            "refseq_ac": "NP_037253",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell-specific surface glycoprotein CD28",
                    "type": "recommended"
                },
                {
                    "name": "CD28 antigen",
                    "type": "synonym"
                },
                {
                    "name": "T-cell-specific surface glycoprotein CD28 precursor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell-specific surface glycoprotein CD28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd28",
                    "type": "recommended"
                },
                {
                    "name": "CD28RNA",
                    "type": "synonym"
                },
                {
                    "name": "Cd28",
                    "type": "synonym"
                }
            ],
            "record_id": "P31042-1",
            "evidence": [
                {
                    "id": "0061089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061089"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15086-1",
            "uniprot_ac": "P15086",
            "uniprot_id": "CBPB1_HUMAN",
            "refseq_ac": "NP_001862",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carboxypeptidase B",
                    "type": "recommended"
                },
                {
                    "name": "3.4.17.2",
                    "type": "synonym"
                },
                {
                    "name": "PASP",
                    "type": "synonym"
                },
                {
                    "name": "Pancreas-specific protein",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase B preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase B1 (tissue)",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase B",
                    "type": "synonym"
                },
                {
                    "name": "pancreas-specific protein",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic carboxypeptidase B",
                    "type": "synonym"
                },
                {
                    "name": "procarboxypeptidase B",
                    "type": "synonym"
                },
                {
                    "name": "protaminase",
                    "type": "synonym"
                },
                {
                    "name": "tissue carboxypeptidase B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPB1",
                    "type": "recommended"
                },
                {
                    "name": "CPB1",
                    "type": "synonym"
                },
                {
                    "name": "CPB",
                    "type": "synonym"
                },
                {
                    "name": "PASP",
                    "type": "synonym"
                },
                {
                    "name": "PCPB",
                    "type": "synonym"
                }
            ],
            "record_id": "P15086-1",
            "evidence": [
                {
                    "id": "0061089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061089"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061089"
}