{
    "disease_id": "DOID:0080988",
    "recommended_name": {
        "id": "DOID:0080988",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080988",
        "name": "pretibial dystrophic epidermolysis bullosa",
        "description": "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa."
    },
    "synonyms": [
        {
            "id": "MONDO:0007552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007552",
            "name": "pretibial dystrophic epidermolysis bullosa",
            "description": "Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region."
        },
        {
            "id": "MONDO:0007552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007552",
            "name": "DEB-Pt",
            "description": ""
        },
        {
            "id": "MONDO:0007552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007552",
            "name": "pretibial DEB",
            "description": ""
        },
        {
            "id": "MONDO:0007552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007552",
            "name": "pretibial epidermolysis bullosa",
            "description": ""
        },
        {
            "id": "MIM:131850",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/131850",
            "name": "Epidermolysis bullosa dystrophica, pretibial type",
            "description": "Epidermolysis bullosa dystrophica, pretibial type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080988"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080988",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080988",
            "categories": []
        },
        {
            "id": "MONDO:0007552",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007552",
            "categories": []
        },
        {
            "id": "MIM:131850",
            "database": "MIM",
            "url": "https://www.omim.org/entry/131850",
            "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": "0080988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080988"
                }
            ]
        },
        {
            "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": "131850",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/131850"
                },
                {
                    "id": "0080988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080988"
                }
            ]
        },
        {
            "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": "0080988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080988"
                }
            ]
        },
        {
            "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": "0080988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080988"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080988"
}