{
    "disease_id": "DOID:0061192",
    "recommended_name": {
        "id": "DOID:0061192",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061192",
        "name": "neonatal inflammatory skin and bowel disease 1",
        "description": "An autoinflammatory disease that has_material_basis_in homozygous mutation in the ADAM17 gene on chromosome 2p25."
    },
    "synonyms": [
        {
            "id": "MONDO:0013693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013693",
            "name": "inflammatory skin and bowel disease, neonatal, 1",
            "description": "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene."
        },
        {
            "id": "MONDO:0013693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013693",
            "name": "ADAM17 neonatal inflammatory skin and bowel disease",
            "description": ""
        },
        {
            "id": "MONDO:0013693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013693",
            "name": "inflammatory skin and bowel disease, neonatal, 1",
            "description": ""
        },
        {
            "id": "MONDO:0013693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013693",
            "name": "inflammatory skin and bowel disease, neonatal, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0013693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013693",
            "name": "neonatal inflammatory skin and bowel disease caused by mutation in ADAM17",
            "description": ""
        },
        {
            "id": "MONDO:0013693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013693",
            "name": "NISBD1",
            "description": ""
        },
        {
            "id": "MIM:614328",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614328",
            "name": "Inflammatory skin and bowel disease, neonatal, 1",
            "description": "Inflammatory skin and bowel disease, neonatal, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061192"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061192",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061192",
            "categories": []
        },
        {
            "id": "MONDO:0013693",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013693",
            "categories": []
        },
        {
            "id": "MIM:614328",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614328",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8Q3V6-1",
            "uniprot_ac": "A0A2R8Q3V6",
            "uniprot_id": "A0A2R8Q3V6_DANRE",
            "refseq_ac": "XP_005158775",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disintegrin and metalloproteinase domain-containing protein 17a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 17a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "adam17a",
                    "type": "recommended"
                },
                {
                    "name": "adam17a",
                    "type": "synonym"
                },
                {
                    "name": "fc20b01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc20b01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63886",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8Q3V6-1",
            "evidence": [
                {
                    "id": "0061192",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061192"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0F8-1",
            "uniprot_ac": "Q9Z0F8",
            "uniprot_id": "ADA17_MOUSE",
            "refseq_ac": "NP_001264195",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disintegrin and metalloproteinase domain-containing protein 17",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.86",
                    "type": "synonym"
                },
                {
                    "name": "ADAM 17",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha convertase",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha converting enzyme",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha-converting enzyme",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 17 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adam17",
                    "type": "recommended"
                },
                {
                    "name": "Adam17",
                    "type": "synonym"
                },
                {
                    "name": "CD156b",
                    "type": "synonym"
                },
                {
                    "name": "Tace",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0F8-1",
            "evidence": [
                {
                    "id": "0061192",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061192"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P78536-1",
            "uniprot_ac": "P78536",
            "uniprot_id": "ADA17_HUMAN",
            "refseq_ac": "NP_003174",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disintegrin and metalloproteinase domain-containing protein 17",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.86",
                    "type": "synonym"
                },
                {
                    "name": "ADAM 17",
                    "type": "synonym"
                },
                {
                    "name": "ADAM metallopeptidase domain 18",
                    "type": "synonym"
                },
                {
                    "name": "Snake venom-like protease",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha convertase enzyme",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha convertase",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha converting enzyme",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha-converting enzyme",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin and metalloproteinase 17",
                    "type": "synonym"
                },
                {
                    "name": "cartilage snake venom-like protease",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 17 isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 17",
                    "type": "synonym"
                },
                {
                    "name": "snake venom-like protease",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor, alpha, converting enzyme",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADAM17",
                    "type": "recommended"
                },
                {
                    "name": "ADAM17",
                    "type": "synonym"
                },
                {
                    "name": "ADAM18",
                    "type": "synonym"
                },
                {
                    "name": "CD156B",
                    "type": "synonym"
                },
                {
                    "name": "CSVP",
                    "type": "synonym"
                },
                {
                    "name": "HYPT16",
                    "type": "synonym"
                },
                {
                    "name": "NISBD1",
                    "type": "synonym"
                },
                {
                    "name": "NISBD",
                    "type": "synonym"
                },
                {
                    "name": "TACE",
                    "type": "synonym"
                }
            ],
            "record_id": "P78536-1",
            "evidence": [
                {
                    "id": "614328",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614328"
                },
                {
                    "id": "0061192",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061192"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z1K9-1",
            "uniprot_ac": "Q9Z1K9",
            "uniprot_id": "ADA17_RAT",
            "refseq_ac": "NP_064702",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disintegrin and metalloproteinase domain-containing protein 17",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.86",
                    "type": "synonym"
                },
                {
                    "name": "ADAM 17",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha convertase",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha-converting enzyme",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin and metallopeptidase domain 17",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin and metalloprotease domain 17",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin and metalloproteinase domain 17 (tumor necrosis factor, alpha, converting enzyme)",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 17 precursor",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adam17",
                    "type": "recommended"
                },
                {
                    "name": "Adam17",
                    "type": "synonym"
                },
                {
                    "name": "TACE",
                    "type": "synonym"
                },
                {
                    "name": "Tace",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1K9-1",
            "evidence": [
                {
                    "id": "0061192",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061192"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAC5-1",
            "uniprot_ac": "Q9VAC5",
            "uniprot_id": "ADA17_DROME",
            "refseq_ac": "NP_651759",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADAM 17-like protease",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "CG7908-PB",
                    "type": "synonym"
                },
                {
                    "name": "Tace-PB",
                    "type": "synonym"
                },
                {
                    "name": "tace, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor-alpha-converting enzyme",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tace",
                    "type": "recommended"
                },
                {
                    "name": "ADAM17",
                    "type": "synonym"
                },
                {
                    "name": "CG7908",
                    "type": "synonym"
                },
                {
                    "name": "CT23908",
                    "type": "synonym"
                },
                {
                    "name": "DTACE",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7908",
                    "type": "synonym"
                },
                {
                    "name": "TACE",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha converting enzyme",
                    "type": "synonym"
                },
                {
                    "name": "Tace",
                    "type": "synonym"
                },
                {
                    "name": "tace",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAC5-1",
            "evidence": [
                {
                    "id": "0061192",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061192"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061192"
}