{
    "disease_id": "DOID:0060642",
    "recommended_name": {
        "id": "DOID:0060642",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060642",
        "name": "recessive dystrophic epidermolysis bullosa",
        "description": "An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0060642",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060642",
            "name": "RDEB, Hallopeau-Siemens type",
            "description": ""
        },
        {
            "id": "DOID:0060642",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060642",
            "name": "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis",
            "description": ""
        },
        {
            "id": "DOID:0060642",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060642",
            "name": "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "recessive dystrophic epidermolysis bullosa",
            "description": "Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement."
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "EBD inversa",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "RDEB generalisata gravis",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "RDEB, Hallopeau-Siemens type",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "RDEB-sev gen",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "epidermolysis bullosa dystrophica, AR",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "epidermolysis bullosa dystrophica, autosomal recessive, modifier of",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "severe generalised RDEB",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "severe generalised recessive dystrophic epidermolysis bullosa",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "RDEB",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "RDEB, severe generalised",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "RDEB, severe generalized",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "epidermolysis bullosa dystrophica, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "epidermolysis bullosa dystrophica, generalised severe, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "recessive dystrophic epidermolysis bullosa, severe generalised",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "recessive dystrophic epidermolysis bullosa, severe generalized",
            "description": ""
        },
        {
            "id": "MIM:226600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/226600",
            "name": "Epidermolysis bullosa dystrophica, autosomal recessive",
            "description": "Epidermolysis bullosa dystrophica, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060642"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060642",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060642",
            "categories": []
        },
        {
            "id": "MONDO:0009179",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "categories": []
        },
        {
            "id": "MIM:226600",
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            "url": "https://www.omim.org/entry/226600",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8M3ARI0",
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            "refseq_ac": "XP_009298419",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Glutamate receptor-interacting protein 1 isoform X1",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                }
            ],
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                    "name": "grip1",
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                },
                {
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                    "name": "si:dkey-244b23.1",
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                    "name": "si:dkey-6a5.1",
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                }
            ]
        },
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                {
                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
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                }
            ],
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                {
                    "name": "Glutamate receptor-interacting protein 1",
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                },
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                    "name": "GRIP-1",
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                },
                {
                    "name": "eye blebs",
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                {
                    "name": "glutamate receptor-interacting protein 1 isoform 4",
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                }
            ],
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                    "name": "4931400F03Rik",
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                }
            ],
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                {
                    "name": "Collagen alpha-1(VII) chain",
                    "type": "recommended"
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                    "name": "LC collagen",
                    "type": "synonym"
                },
                {
                    "name": "Long-chain collagen",
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                },
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                    "name": "collagen alpha-1(VII) chain precursor",
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                {
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            ],
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                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Collagen alpha-1(VII) chain",
                    "type": "recommended"
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                },
                {
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                    "name": "collagen VII, alpha-1 polypeptide",
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                {
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                }
            ],
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                {
                    "name": "Drosophila melanogaster",
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                }
            ],
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                }
            ]
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060642"
}