{
    "disease_id": "DOID:0060733",
    "recommended_name": {
        "id": "DOID:0060733",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0060733",
            "name": "Carmi syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060733",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060733",
            "name": "JEB-PA",
            "description": ""
        },
        {
            "id": "DOID:0060733",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060733",
            "name": "junctional epidermolysis bullosa-pyloric atresia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060733",
            "resource": "Disease Ontology",
            "url": "http://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, see this term) 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": "junctional epidermolysis bullosa with pyloric atresia",
            "description": ""
        },
        {
            "id": "MONDO:0009183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009183",
            "name": "epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita",
            "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": "aplasia cutis congenita with gastrointestinal atresia",
            "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 atresia",
            "description": ""
        },
        {
            "id": "MONDO:0009183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009183",
            "name": "junctional epidermolysis bullosa-pyloric atresia 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": "EB-Pa-ACC",
            "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": "junctional epidermolysis bullosa - pyloric atresia",
            "description": ""
        },
        {
            "id": "MONDO:0009183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009183",
            "name": "epidermolysis bullosa with pyloric atresia",
            "description": ""
        },
        {
            "id": "MIM:226730",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/226730",
            "name": "Epidermolysis bullosa letalis, with pyloric atresia",
            "description": "Epidermolysis bullosa letalis, with pyloric atresia"
        }
    ]
}