{
    "disease_id": "DOID:0111347",
    "recommended_name": {
        "id": "DOID:0111347",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111347",
        "name": "epidermolysis bullosa with congenital localized absence of skin and deformity of nails",
        "description": "An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111347",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111347",
            "name": "EBD, Bart type",
            "description": ""
        },
        {
            "id": "DOID:0111347",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111347",
            "name": "epidermolysis bullosa dystrophica, Bart type",
            "description": ""
        },
        {
            "id": "MONDO:0007557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007557",
            "name": "epidermolysis bullosa with congenital localized absence of skin and deformity of nails",
            "description": ""
        },
        {
            "id": "MONDO:0007557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007557",
            "name": "epidermolysis bullosa with congenital localized absence of skin and deformity of nails",
            "description": ""
        },
        {
            "id": "MIM:132000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/132000",
            "name": "Epidermolysis bullosa dystrophica, Bart type",
            "description": "Epidermolysis bullosa dystrophica, Bart type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111347"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111347",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111347",
            "categories": []
        },
        {
            "id": "MONDO:0007557",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007557",
            "categories": []
        },
        {
            "id": "MIM:132000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/132000",
            "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": "0111347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111347"
                }
            ]
        },
        {
            "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": "132000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/132000"
                },
                {
                    "id": "0111347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111347"
                }
            ]
        },
        {
            "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": "0111347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111347"
                }
            ]
        },
        {
            "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": "0111347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111347"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111347"
}