{
    "disease_id": "DOID:0090017",
    "recommended_name": {
        "id": "DOID:0090017",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090017",
        "name": "epidermolysis bullosa simplex with muscular dystrophy",
        "description": "An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "DOID:0090017",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090017",
            "name": "limb-girdle muscular dystrophy with epidermolysis bullosa simplex",
            "description": ""
        },
        {
            "id": "DOID:0090017",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090017",
            "name": "epidermolysis bullosa simplex and limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "epidermolysis bullosa simplex 5B, with muscular dystrophy",
            "description": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy."
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "EBS-MD",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "epidermolysis bullosa simplex 5B, with muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "epidermolysis bullosa simplex and limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "epidermolysis bullosa simplex with muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "limb-girdle muscular dystrophy with epidermolysis bullosa simplex",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "EBSMD",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "Epidermolysa bullosa simplex and limb girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "Epidermolysa bullosa simplex with muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "MD-EBS",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "MDEBS",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "epidermolysis bullosa simplex - limb girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MIM:226670",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/226670",
            "name": "Epidermolysis bullosa simplex 5B, with muscular dystrophy",
            "description": "Epidermolysis bullosa simplex 5B, with muscular dystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090017"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090017",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090017",
            "categories": []
        },
        {
            "id": "MONDO:0009181",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "categories": []
        },
        {
            "id": "MIM:226670",
            "database": "MIM",
            "url": "https://www.omim.org/entry/226670",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P1W1-1",
            "uniprot_ac": "A0A8M9P1W1",
            "uniprot_id": "A0A8M9P1W1_DANRE",
            "refseq_ac": "XP_021323777",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plectin",
                    "type": "recommended"
                },
                {
                    "name": "Plectin-1",
                    "type": "synonym"
                },
                {
                    "name": "plectin a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pleca",
                    "type": "recommended"
                },
                {
                    "name": "fa95h11",
                    "type": "synonym"
                },
                {
                    "name": "plec1-like",
                    "type": "synonym"
                },
                {
                    "name": "pleca",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu420",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-151c10.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa95h11",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P1W1-1",
            "evidence": [
                {
                    "id": "0090017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090017"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PDC8-1",
            "uniprot_ac": "A0A8M9PDC8",
            "uniprot_id": "A0A8M9PDC8_DANRE",
            "refseq_ac": "XP_021322489",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plectin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "plectin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "plecb",
                    "type": "recommended"
                },
                {
                    "name": "plecb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PDC8-1",
            "evidence": [
                {
                    "id": "0090017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090017"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QXS1-1",
            "uniprot_ac": "Q9QXS1",
            "uniprot_id": "PLEC_MOUSE",
            "refseq_ac": "NP_001157012",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plectin",
                    "type": "recommended"
                },
                {
                    "name": "PCN",
                    "type": "synonym"
                },
                {
                    "name": "PLTN",
                    "type": "synonym"
                },
                {
                    "name": "Plectin-1",
                    "type": "synonym"
                },
                {
                    "name": "Plectin-6",
                    "type": "synonym"
                },
                {
                    "name": "plectin isoform 12alpha",
                    "type": "synonym"
                },
                {
                    "name": "plectin-1",
                    "type": "synonym"
                },
                {
                    "name": "plectin-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plec",
                    "type": "recommended"
                },
                {
                    "name": "EBS1",
                    "type": "synonym"
                },
                {
                    "name": "PCN",
                    "type": "synonym"
                },
                {
                    "name": "PLTN",
                    "type": "synonym"
                },
                {
                    "name": "Plec1",
                    "type": "synonym"
                },
                {
                    "name": "Plec",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QXS1-1",
            "evidence": [
                {
                    "id": "0090017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090017"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15149-1",
            "uniprot_ac": "Q15149",
            "uniprot_id": "PLEC_HUMAN",
            "refseq_ac": "NP_000436",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plectin",
                    "type": "recommended"
                },
                {
                    "name": "HD1",
                    "type": "synonym"
                },
                {
                    "name": "Hemidesmosomal protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PCN",
                    "type": "synonym"
                },
                {
                    "name": "PLTN",
                    "type": "synonym"
                },
                {
                    "name": "Plectin-1",
                    "type": "synonym"
                },
                {
                    "name": "hemidesmosomal protein 1",
                    "type": "synonym"
                },
                {
                    "name": "plectin 1, intermediate filament binding protein 500kDa",
                    "type": "synonym"
                },
                {
                    "name": "plectin isoform 1c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLEC",
                    "type": "recommended"
                },
                {
                    "name": "EBS1",
                    "type": "synonym"
                },
                {
                    "name": "EBS5A",
                    "type": "synonym"
                },
                {
                    "name": "EBS5B",
                    "type": "synonym"
                },
                {
                    "name": "EBS5C",
                    "type": "synonym"
                },
                {
                    "name": "EBS5D",
                    "type": "synonym"
                },
                {
                    "name": "EBSMD",
                    "type": "synonym"
                },
                {
                    "name": "EBSND",
                    "type": "synonym"
                },
                {
                    "name": "EBSOG",
                    "type": "synonym"
                },
                {
                    "name": "EBSO",
                    "type": "synonym"
                },
                {
                    "name": "EBSPA",
                    "type": "synonym"
                },
                {
                    "name": "HD1",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2Q",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR17",
                    "type": "synonym"
                },
                {
                    "name": "PCN",
                    "type": "synonym"
                },
                {
                    "name": "PLEC1b",
                    "type": "synonym"
                },
                {
                    "name": "PLEC1",
                    "type": "synonym"
                },
                {
                    "name": "PLEC",
                    "type": "synonym"
                },
                {
                    "name": "PLTN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15149-1",
            "evidence": [
                {
                    "id": "226670",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/226670"
                },
                {
                    "id": "0090017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090017"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30427-1",
            "uniprot_ac": "P30427",
            "uniprot_id": "PLEC_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plectin",
                    "type": "recommended"
                },
                {
                    "name": "PCN",
                    "type": "synonym"
                },
                {
                    "name": "PLTN",
                    "type": "synonym"
                },
                {
                    "name": "Plectin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plec",
                    "type": "recommended"
                },
                {
                    "name": "Plec1",
                    "type": "synonym"
                }
            ],
            "record_id": "P30427-1",
            "evidence": [
                {
                    "id": "0090017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090017"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090017"
}