{
    "disease_id": "DOID:0060733", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009183", 
            "name": "Carmi syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009183", 
            "name": "epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009183", 
            "name": "epidermolysis bullosa junctionalis with pyloric atresia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009183", 
            "name": "aplasia cutis congenita with gastrointestinal atresia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009183", 
            "name": "epidermolysis bullosa, junctional, with pyloric atresia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009183", 
            "name": "junctional epidermolysis bullosa-pyloric atresia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009183", 
            "name": "JEB-Pa"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009183", 
            "name": "EB-Pa-ACC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009183", 
            "name": "junctional epidermolysis bullosa - pyloric atresia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009183", 
            "name": "epidermolysis bullosa with pyloric atresia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060733", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060733", 
            "name": "Carmi syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060733", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060733", 
            "name": "JEB-PA"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060733", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060733", 
            "name": "junctional epidermolysis bullosa-pyloric atresia syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060733", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060733", 
            "name": "epidermolysis bullosa junctionalis with pyloric atresia"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060733", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060733", 
        "name": "junctional epidermolysis bullosa with pyloric atresia"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060733#disease-associations", 
            "id": "0060733", 
            "database": "Alliance of Genome Resources"
        }
    ]
}