{
    "disease_id": "DOID:0060733",
    "recommended_name": {
        "id": "DOID:0060733",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060733",
        "name": "junctional epidermolysis bullosa with pyloric atresia",
        "description": "A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes."
    },
    "synonyms": [
        {
            "id": "DOID:0060733",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060733",
            "name": "Carmi syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060733",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060733",
            "name": "JEB-PA",
            "description": ""
        },
        {
            "id": "DOID:0060733",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060733",
            "name": "junctional epidermolysis bullosa-pyloric atresia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060733",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060733",
            "name": "epidermolysis bullosa junctionalis with pyloric atresia",
            "description": ""
        },
        {
            "id": "MONDO:0009183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009183",
            "name": "junctional epidermolysis bullosa with pyloric atresia",
            "description": "Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract."
        },
        {
            "id": "MONDO:0009183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009183",
            "name": "Carmi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009183",
            "name": "JEB-PA",
            "description": ""
        },
        {
            "id": "MONDO:0009183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009183",
            "name": "epidermolysis bullosa junctionalis with pyloric atresia",
            "description": ""
        },
        {
            "id": "MONDO:0009183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009183",
            "name": "epidermolysis bullosa, junctional, with pyloric stenosis",
            "description": ""
        },
        {
            "id": "MONDO:0009183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009183",
            "name": "junctional epidermolysis bullosa with pyloric atresia",
            "description": ""
        },
        {
            "id": "MONDO:0009183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009183",
            "name": "epidermolysis bullosa with pyloric atresia",
            "description": ""
        },
        {
            "id": "MONDO:0009183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009183",
            "name": "junctional epidermolysis bullosa - pyloric atresia",
            "description": ""
        },
        {
            "id": "MIM:226730",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/226730",
            "name": "Epidermolysis bullosa, junctional 5B, with pyloric atresia",
            "description": "Epidermolysis bullosa, junctional 5B, with pyloric atresia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060733"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060733",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060733",
            "categories": []
        },
        {
            "id": "MONDO:0009183",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009183",
            "categories": []
        },
        {
            "id": "MIM:226730",
            "database": "MIM",
            "url": "https://www.omim.org/entry/226730",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TT67-1",
            "uniprot_ac": "A0AB32TT67",
            "uniprot_id": "A0AB32TT67_DANRE",
            "refseq_ac": "XP_068078977",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Integrin beta",
                    "type": "recommended"
                },
                {
                    "name": "integrin beta-4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "itgb4",
                    "type": "recommended"
                },
                {
                    "name": "fl03d06",
                    "type": "synonym"
                },
                {
                    "name": "itgb4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb72e01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc27g01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fl03d06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136313",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0060733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9QPM6-1",
            "uniprot_ac": "A0A8M9QPM6",
            "uniprot_id": "A0A8M9QPM6_DANRE",
            "refseq_ac": "XP_021336955",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
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                }
            ],
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                {
                    "name": "Integrin alpha-6 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-6 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "itga6l",
                    "type": "recommended"
                },
                {
                    "name": "itga6l",
                    "type": "synonym"
                }
            ],
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                    "id": "0060733",
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                }
            ]
        },
        {
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                {
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                }
            ],
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                {
                    "name": "Integrin alpha-6 isoform X1",
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                },
                {
                    "name": "integrin alpha-6 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "itga6a",
                    "type": "recommended"
                },
                {
                    "name": "itga6a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5F2-1",
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                {
                    "id": "0060733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2A863-1",
            "uniprot_ac": "A2A863",
            "uniprot_id": "ITB4_MOUSE",
            "refseq_ac": "NP_001392055",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin beta-4",
                    "type": "recommended"
                },
                {
                    "name": "Integrin beta-4",
                    "type": "synonym"
                },
                {
                    "name": "integrin beta-4 isoform 4 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itgb4",
                    "type": "recommended"
                },
                {
                    "name": "C230078O20",
                    "type": "synonym"
                },
                {
                    "name": "CD104",
                    "type": "synonym"
                },
                {
                    "name": "Itgb4",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61739-1",
            "uniprot_ac": "Q61739",
            "uniprot_id": "ITA6_MOUSE",
            "refseq_ac": "NP_001264899",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin alpha-6",
                    "type": "recommended"
                },
                {
                    "name": "CD49 antigen-like family member F",
                    "type": "synonym"
                },
                {
                    "name": "VLA-6",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-6 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itga6",
                    "type": "recommended"
                },
                {
                    "name": "5033401O05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cd49f",
                    "type": "synonym"
                },
                {
                    "name": "Itga6",
                    "type": "synonym"
                },
                {
                    "name": "VLA-6",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16144-1",
            "uniprot_ac": "P16144",
            "uniprot_id": "ITB4_HUMAN",
            "refseq_ac": "NP_000204",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin beta-4",
                    "type": "recommended"
                },
                {
                    "name": "CD104 antigen",
                    "type": "synonym"
                },
                {
                    "name": "GP150",
                    "type": "synonym"
                },
                {
                    "name": "integrin beta-4 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ITGB4",
                    "type": "recommended"
                },
                {
                    "name": "CD104",
                    "type": "synonym"
                },
                {
                    "name": "GP150",
                    "type": "synonym"
                },
                {
                    "name": "ITGB4",
                    "type": "synonym"
                },
                {
                    "name": "JEB5A",
                    "type": "synonym"
                },
                {
                    "name": "JEB5B",
                    "type": "synonym"
                }
            ],
            "record_id": "P16144-1",
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                {
                    "id": "226730",
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                    "url": "https://www.omim.org/entry/226730"
                },
                {
                    "id": "0060733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64632-1",
            "uniprot_ac": "Q64632",
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            "refseq_ac": "NP_037312",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Integrin beta-4",
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                },
                {
                    "name": "GP150",
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                    "name": "integrin beta-4 precursor",
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            ],
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                    "name": "Itgb4",
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                {
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                    "id": "0060733",
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            ]
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        {
            "uniprot_canonical_ac": "A0ABK0LL92-1",
            "uniprot_ac": "A0ABK0LL92",
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                {
                    "name": "Rattus norvegicus",
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                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Integrin alpha-6",
                    "type": "recommended"
                },
                {
                    "name": "CD49 antigen-like family member F",
                    "type": "synonym"
                },
                {
                    "name": "VLA-6",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-6 isoform X3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Itga6",
                    "type": "recommended"
                },
                {
                    "name": "Itga6",
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                    "id": "0060733",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24247-1",
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            "refseq_ac": "NP_001259503",
            "glycoprotein": "yes",
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                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Integrin alpha-PS1",
                    "type": "recommended"
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                {
                    "name": "CG1771-PE",
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                },
                {
                    "name": "PS I alpha",
                    "type": "synonym"
                },
                {
                    "name": "PS1 integrin",
                    "type": "synonym"
                },
                {
                    "name": "PS1-Integrin",
                    "type": "synonym"
                },
                {
                    "name": "Position-specific antigen subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "Position-specific-1 antigen",
                    "type": "synonym"
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                {
                    "name": "Position-specific-antigen-1alpha",
                    "type": "synonym"
                },
                {
                    "name": "Protein multiple edematous wings",
                    "type": "synonym"
                },
                {
                    "name": "alpha integrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-PS1-integrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha1 integrin subunit",
                    "type": "synonym"
                },
                {
                    "name": "alpha1 integrin",
                    "type": "synonym"
                },
                {
                    "name": "alphaPS integrin",
                    "type": "synonym"
                },
                {
                    "name": "alphaPS1 integrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha[[PS1]] subunit of integrin",
                    "type": "synonym"
                },
                {
                    "name": "integrin PSII alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha PS1",
                    "type": "synonym"
                },
                {
                    "name": "integrin alphaPS1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "integrin alphaPS1",
                    "type": "synonym"
                },
                {
                    "name": "mew-PE",
                    "type": "synonym"
                },
                {
                    "name": "multiple edematous wings, isoform E",
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                },
                {
                    "name": "multiple edematous wings",
                    "type": "synonym"
                }
            ],
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                    "name": "mew",
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                    "name": "CG1771",
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                },
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                    "name": "CT5254",
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                },
                {
                    "name": "Dmel\\CG1771",
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                },
                {
                    "name": "Dmel_CG1771",
                    "type": "synonym"
                },
                {
                    "name": "Integrin alpha PS1",
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                },
                {
                    "name": "ItgaPS1",
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                },
                {
                    "name": "Mew",
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                },
                {
                    "name": "PS1alpha",
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                },
                {
                    "name": "PS1",
                    "type": "synonym"
                },
                {
                    "name": "PSalpha1",
                    "type": "synonym"
                },
                {
                    "name": "aPS1",
                    "type": "synonym"
                },
                {
                    "name": "alpha integrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-PS1",
                    "type": "synonym"
                },
                {
                    "name": "alpha1Int",
                    "type": "synonym"
                },
                {
                    "name": "alphaPS1",
                    "type": "synonym"
                },
                {
                    "name": "alpha[[PS1]]",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0429",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0443",
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                },
                {
                    "name": "mew",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q27591-1",
            "uniprot_ac": "Q27591",
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                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Integrin beta-nu",
                    "type": "recommended"
                },
                {
                    "name": "CG1762-PB",
                    "type": "synonym"
                },
                {
                    "name": "Itgbn-PB",
                    "type": "synonym"
                },
                {
                    "name": "beta-Integrin-nu",
                    "type": "synonym"
                },
                {
                    "name": "beta[[nu]]Integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta[nu] integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta[v]integrin",
                    "type": "synonym"
                },
                {
                    "name": "betanu integrin",
                    "type": "synonym"
                },
                {
                    "name": "betanuintegrin",
                    "type": "synonym"
                },
                {
                    "name": "betav integrin",
                    "type": "synonym"
                },
                {
                    "name": "integrin BetaPS",
                    "type": "synonym"
                },
                {
                    "name": "integrin beta neu",
                    "type": "synonym"
                },
                {
                    "name": "integrin beta v",
                    "type": "synonym"
                },
                {
                    "name": "integrin betanu subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "integrin betanu subunit",
                    "type": "synonym"
                },
                {
                    "name": "integrin bn",
                    "type": "synonym"
                },
                {
                    "name": "integrinbetanu",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itgbn",
                    "type": "recommended"
                },
                {
                    "name": "-nu",
                    "type": "synonym"
                },
                {
                    "name": "Beta[[nu]]",
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                },
                {
                    "name": "CG1762",
                    "type": "synonym"
                },
                {
                    "name": "CT5192",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1762",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1762",
                    "type": "synonym"
                },
                {
                    "name": "Fly betanu",
                    "type": "synonym"
                },
                {
                    "name": "ITGbeta PSv",
                    "type": "synonym"
                },
                {
                    "name": "Integrinbetanu",
                    "type": "synonym"
                },
                {
                    "name": "Itgbetanu",
                    "type": "synonym"
                },
                {
                    "name": "Itgbetav",
                    "type": "synonym"
                },
                {
                    "name": "Itgbn",
                    "type": "synonym"
                },
                {
                    "name": "beta integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-Integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-nu",
                    "type": "synonym"
                },
                {
                    "name": "betaInt nu",
                    "type": "synonym"
                },
                {
                    "name": "betaInt-&ngr",
                    "type": "synonym"
                },
                {
                    "name": "betaInt-nu",
                    "type": "synonym"
                },
                {
                    "name": "betaInt[nu]",
                    "type": "synonym"
                },
                {
                    "name": "betaInt",
                    "type": "synonym"
                },
                {
                    "name": "betaV-integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta[[v]]",
                    "type": "synonym"
                },
                {
                    "name": "beta[nu]-integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta[v]integrin",
                    "type": "synonym"
                },
                {
                    "name": "betagr:-nu",
                    "type": "synonym"
                },
                {
                    "name": "betagr",
                    "type": "synonym"
                },
                {
                    "name": "betanu",
                    "type": "synonym"
                },
                {
                    "name": "betav",
                    "type": "synonym"
                },
                {
                    "name": "intbetanu",
                    "type": "synonym"
                },
                {
                    "name": "integrin betaPs",
                    "type": "synonym"
                }
            ],
            "record_id": "Q27591-1",
            "evidence": [
                {
                    "id": "0060733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11532-1",
            "uniprot_ac": "P11532",
            "uniprot_id": "DMD_HUMAN",
            "refseq_ac": "NP_004000",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dystrophin",
                    "type": "recommended"
                },
                {
                    "name": "dystrophin isoform Dp427p1",
                    "type": "synonym"
                },
                {
                    "name": "mutant dystrophin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DMD",
                    "type": "recommended"
                },
                {
                    "name": "BMD",
                    "type": "synonym"
                },
                {
                    "name": "CMD3B",
                    "type": "synonym"
                },
                {
                    "name": "DMD",
                    "type": "synonym"
                },
                {
                    "name": "DXS142",
                    "type": "synonym"
                },
                {
                    "name": "DXS164",
                    "type": "synonym"
                },
                {
                    "name": "DXS206",
                    "type": "synonym"
                },
                {
                    "name": "DXS230",
                    "type": "synonym"
                },
                {
                    "name": "DXS239",
                    "type": "synonym"
                },
                {
                    "name": "DXS268",
                    "type": "synonym"
                },
                {
                    "name": "DXS269",
                    "type": "synonym"
                },
                {
                    "name": "DXS270",
                    "type": "synonym"
                },
                {
                    "name": "DXS272",
                    "type": "synonym"
                },
                {
                    "name": "MRX85",
                    "type": "synonym"
                }
            ],
            "record_id": "P11532-1",
            "evidence": [
                {
                    "id": "0060733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23229-1",
            "uniprot_ac": "P23229",
            "uniprot_id": "ITA6_HUMAN",
            "refseq_ac": "NP_000201",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin alpha-6",
                    "type": "recommended"
                },
                {
                    "name": "CD49 antigen-like family member F",
                    "type": "synonym"
                },
                {
                    "name": "VLA-6",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-6 isoform b preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha6B",
                    "type": "synonym"
                },
                {
                    "name": "integrin, alpha 6",
                    "type": "synonym"
                },
                {
                    "name": "very late activation protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ITGA6",
                    "type": "recommended"
                },
                {
                    "name": "CD49f",
                    "type": "synonym"
                },
                {
                    "name": "ITGA6A",
                    "type": "synonym"
                },
                {
                    "name": "ITGA6B",
                    "type": "synonym"
                },
                {
                    "name": "ITGA6",
                    "type": "synonym"
                },
                {
                    "name": "JEB6",
                    "type": "synonym"
                },
                {
                    "name": "VLA-6",
                    "type": "synonym"
                }
            ],
            "record_id": "P23229-1",
            "evidence": [
                {
                    "id": "0060733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060733"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060733"
}