{
    "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": []
}