{
    "disease_id": "DOID:0050677", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009872", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009872", 
            "name": "BJS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009872", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009872", 
            "name": "pili torti-sensorineural hearing loss"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009872", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009872", 
            "name": "PTND"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009872", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009872", 
            "name": "PTD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009872", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009872", 
            "name": "BJrnstad syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009872", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009872", 
            "name": "deafness and pili torti, Bjornstad type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009872", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009872", 
            "name": "Bjornstad syndrome; BJS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009872", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009872", 
            "name": "deafness-pili torti-hypogonadism syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009872", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009872", 
            "name": "pili torti and nerve deafness"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050677", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050677", 
            "name": "BJS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050677", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050677", 
            "name": "PTD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050677", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050677", 
            "name": "deafness-pili torti-hypogonadism syndrome"
        }, 
        {
            "url": "https://www.omim.org/entry/262000", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:262000", 
            "name": "Bjoernstad syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050677", 
        "description": "A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050677", 
        "name": "Bjornstad syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/262000", 
            "id": "262000", 
            "database": "MIM"
        }
    ]
}