{
    "disease_id": "DOID:0050677",
    "recommended_name": {
        "id": "DOID:0050677",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050677",
        "name": "Bjornstad syndrome",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0050677",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050677",
            "name": "BJS",
            "description": ""
        },
        {
            "id": "DOID:0050677",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050677",
            "name": "PTD",
            "description": ""
        },
        {
            "id": "DOID:0050677",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050677",
            "name": "deafness-pili torti-hypogonadism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009872",
            "name": "Bjornstad syndrome",
            "description": "Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome (see this term)."
        },
        {
            "id": "MONDO:0009872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009872",
            "name": "BJS",
            "description": ""
        },
        {
            "id": "MONDO:0009872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009872",
            "name": "pili torti-sensorineural hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0009872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009872",
            "name": "PTND",
            "description": ""
        },
        {
            "id": "MONDO:0009872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009872",
            "name": "PTD",
            "description": ""
        },
        {
            "id": "MONDO:0009872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009872",
            "name": "BJrnstad syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009872",
            "name": "deafness and pili torti, Bjornstad type",
            "description": ""
        },
        {
            "id": "MONDO:0009872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009872",
            "name": "Bjornstad syndrome; BJS",
            "description": ""
        },
        {
            "id": "MONDO:0009872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009872",
            "name": "deafness-pili torti-hypogonadism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009872",
            "name": "pili torti and nerve deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009872",
            "name": "Bjornstad syndrome",
            "description": ""
        },
        {
            "id": "MIM:262000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/262000",
            "name": "Bjoernstad syndrome",
            "description": "Bjoernstad syndrome"
        }
    ]
}