{
    "disease_id": "DOID:14694",
    "recommended_name": {
        "id": "DOID:14694",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14694",
        "name": "Johanson-Blizzard syndrome",
        "description": "A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner."
    },
    "synonyms": [
        {
            "id": "DOID:14694",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14694",
            "name": "JBS",
            "description": ""
        },
        {
            "id": "MONDO:0009479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009479",
            "name": "Johanson-Blizzard syndrome",
            "description": "Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability."
        },
        {
            "id": "MONDO:0009479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009479",
            "name": "JBS",
            "description": ""
        },
        {
            "id": "MONDO:0009479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009479",
            "name": "Johanson-BLIZZARD syndrome; JBS",
            "description": ""
        },
        {
            "id": "MONDO:0009479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009479",
            "name": "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009479",
            "name": "Johanson-Blizzard syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009479",
            "name": "nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness",
            "description": ""
        },
        {
            "id": "MIM:243800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/243800",
            "name": "Johanson-Blizzard syndrome",
            "description": "Johanson-Blizzard syndrome"
        }
    ]
}