{
    "disease_id": "DOID:0061171",
    "recommended_name": {
        "id": "DOID:0061171",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061171",
        "name": "immunodeficiency 130 with HPV-related verrucosis",
        "description": "A primary immunodeficiency disease that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0032667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032667",
            "name": "epidermodysplasia verruciformis, susceptibility to, 5",
            "description": ""
        },
        {
            "id": "MONDO:0032667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032667",
            "name": "EV5",
            "description": ""
        },
        {
            "id": "MIM:618309",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618309",
            "name": "Immunodeficiency 130 with HPV-related verrucosis",
            "description": "Immunodeficiency 130 with HPV-related verrucosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061171"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061171",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061171",
            "categories": []
        },
        {
            "id": "MONDO:0032667",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032667",
            "categories": []
        },
        {
            "id": "MIM:618309",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618309",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P10168-1",
            "uniprot_ac": "P10168",
            "uniprot_id": "IL7_MOUSE",
            "refseq_ac": "NP_032397",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-7",
                    "type": "recommended"
                },
                {
                    "name": "IL-7",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-7 isoform a precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il7",
                    "type": "recommended"
                },
                {
                    "name": "A630026I06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Il-7",
                    "type": "synonym"
                },
                {
                    "name": "Il7",
                    "type": "synonym"
                },
                {
                    "name": "hlb368",
                    "type": "synonym"
                }
            ],
            "record_id": "P10168-1",
            "evidence": [
                {
                    "id": "0061171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13232-1",
            "uniprot_ac": "P13232",
            "uniprot_id": "IL7_HUMAN",
            "refseq_ac": "NP_000871",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-7",
                    "type": "recommended"
                },
                {
                    "name": "IL-7",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-7 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IL7",
                    "type": "recommended"
                },
                {
                    "name": "IL-7",
                    "type": "synonym"
                },
                {
                    "name": "IL7",
                    "type": "synonym"
                },
                {
                    "name": "IMD130",
                    "type": "synonym"
                }
            ],
            "record_id": "P13232-1",
            "evidence": [
                {
                    "id": "618309",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618309"
                },
                {
                    "id": "0061171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56478-1",
            "uniprot_ac": "P56478",
            "uniprot_id": "IL7_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-7",
                    "type": "recommended"
                },
                {
                    "name": "IL-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il7",
                    "type": "recommended"
                }
            ],
            "record_id": "P56478-1",
            "evidence": [
                {
                    "id": "0061171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TDM6-1",
            "uniprot_ac": "Q8TDM6",
            "uniprot_id": "DLG5_HUMAN",
            "refseq_ac": "NP_004738",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disks large homolog 5",
                    "type": "recommended"
                },
                {
                    "name": "Discs large protein P-dlg",
                    "type": "synonym"
                },
                {
                    "name": "Placenta and prostate DLG",
                    "type": "synonym"
                },
                {
                    "name": "discs large protein LP-DLG",
                    "type": "synonym"
                },
                {
                    "name": "discs large protein P-dlg",
                    "type": "synonym"
                },
                {
                    "name": "discs, large homolog 5",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 5",
                    "type": "synonym"
                },
                {
                    "name": "large type of P-DLG",
                    "type": "synonym"
                },
                {
                    "name": "placenta and prostate DLG",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DLG5",
                    "type": "recommended"
                },
                {
                    "name": "DLG5",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0583",
                    "type": "synonym"
                },
                {
                    "name": "LP-DLG",
                    "type": "synonym"
                },
                {
                    "name": "P-DLG5",
                    "type": "synonym"
                },
                {
                    "name": "PDLG",
                    "type": "synonym"
                },
                {
                    "name": "YUVOB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TDM6-1",
            "evidence": [
                {
                    "id": "0061171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061171"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061171"
}