{
    "disease_id": "DOID:0111345",
    "recommended_name": {
        "id": "DOID:0111345",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111345",
        "name": "transient bullous dermolysis of the newborn",
        "description": "An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111345",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111345",
            "name": "DEB, bullous dermolysis of the newborn",
            "description": ""
        },
        {
            "id": "DOID:0111345",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111345",
            "name": "DEB-BDN",
            "description": ""
        },
        {
            "id": "MONDO:0007548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007548",
            "name": "transient bullous dermolysis of the newborn",
            "description": "Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life."
        },
        {
            "id": "MONDO:0007548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007548",
            "name": "transient bullous dermolysis of the newborn",
            "description": ""
        },
        {
            "id": "MONDO:0007548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007548",
            "name": "transient bullous of the newborn",
            "description": ""
        },
        {
            "id": "MONDO:0007548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007548",
            "name": "MONDON",
            "description": ""
        },
        {
            "id": "MONDO:0007548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007548",
            "name": "TBDN",
            "description": ""
        },
        {
            "id": "MONDO:0007548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007548",
            "name": "epidermolysis bullosa dystrophica, dominant neonatal form",
            "description": ""
        },
        {
            "id": "MIM:131705",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/131705",
            "name": "Transient bullous dermolysis of the newborn",
            "description": "Transient bullous dermolysis of the newborn"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111345"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111345",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111345",
            "categories": []
        },
        {
            "id": "MONDO:0007548",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007548",
            "categories": []
        },
        {
            "id": "MIM:131705",
            "database": "MIM",
            "url": "https://www.omim.org/entry/131705",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q63870-1",
            "uniprot_ac": "Q63870",
            "uniprot_id": "CO7A1_MOUSE",
            "refseq_ac": "NP_031764",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(VII) chain",
                    "type": "recommended"
                },
                {
                    "name": "LC collagen",
                    "type": "synonym"
                },
                {
                    "name": "Long-chain collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(VII) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(VII) chain",
                    "type": "synonym"
                },
                {
                    "name": "long-chain collagen",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type VII, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col7a1",
                    "type": "recommended"
                },
                {
                    "name": "Col7a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63870-1",
            "evidence": [
                {
                    "id": "0111345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111345"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02388-1",
            "uniprot_ac": "Q02388",
            "uniprot_id": "CO7A1_HUMAN",
            "refseq_ac": "NP_000085",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(VII) chain",
                    "type": "recommended"
                },
                {
                    "name": "LC collagen",
                    "type": "synonym"
                },
                {
                    "name": "Long-chain collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen VII, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(VII) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(VII) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type VII, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "long-chain collagen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL7A1",
                    "type": "recommended"
                },
                {
                    "name": "COL7A1",
                    "type": "synonym"
                },
                {
                    "name": "EBD1",
                    "type": "synonym"
                },
                {
                    "name": "EBDCT",
                    "type": "synonym"
                },
                {
                    "name": "EBR1",
                    "type": "synonym"
                },
                {
                    "name": "NDNC8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02388-1",
            "evidence": [
                {
                    "id": "131705",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/131705"
                },
                {
                    "id": "0111345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111345"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91WW1-1",
            "uniprot_ac": "Q91WW1",
            "uniprot_id": "UCN2_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": "Urocortin-2",
                    "type": "recommended"
                },
                {
                    "name": "Ucn II",
                    "type": "synonym"
                },
                {
                    "name": "Urocortin II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col7a1",
                    "type": "recommended"
                },
                {
                    "name": "Ucn2",
                    "type": "recommended"
                },
                {
                    "name": "Ucn2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91WW1-1",
            "evidence": [
                {
                    "id": "0111345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111345"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04906-1",
            "uniprot_ac": "Q04906",
            "uniprot_id": "BMP6_RAT",
            "refseq_ac": "NP_037239",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 6",
                    "type": "recommended"
                },
                {
                    "name": "BMP-6",
                    "type": "synonym"
                },
                {
                    "name": "VG-1-related protein",
                    "type": "synonym"
                },
                {
                    "name": "VGR-1",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 6 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmp6",
                    "type": "recommended"
                },
                {
                    "name": "Bmp-6",
                    "type": "synonym"
                },
                {
                    "name": "Bmp6",
                    "type": "synonym"
                },
                {
                    "name": "VGR",
                    "type": "synonym"
                },
                {
                    "name": "Vgr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04906-1",
            "evidence": [
                {
                    "id": "0111345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111345"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111345"
}