{
    "disease_id": "DOID:0050677",
    "recommended_name": {
        "id": "DOID:0050677",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0050677",
            "name": "BJS",
            "description": ""
        },
        {
            "id": "DOID:0050677",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050677",
            "name": "PTD",
            "description": ""
        },
        {
            "id": "DOID:0050677",
            "resource": "Disease Ontology",
            "url": "https://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."
        },
        {
            "id": "MONDO:0009872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009872",
            "name": "Bjornstad syndrome",
            "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-pili torti-hypogonadism syndrome",
            "description": ""
        },
        {
            "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": "PTD",
            "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": "deafness and pili torti, Bjornstad type",
            "description": ""
        },
        {
            "id": "MONDO:0009872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009872",
            "name": "pili torti-sensorineural hearing loss",
            "description": ""
        },
        {
            "id": "MIM:262000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/262000",
            "name": "Bjoernstad syndrome",
            "description": "Bjoernstad syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050677"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050677",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050677",
            "categories": []
        },
        {
            "id": "MONDO:0009872",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009872",
            "categories": []
        },
        {
            "id": "MIM:262000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/262000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZV60-1",
            "uniprot_ac": "Q7ZV60",
            "uniprot_id": "BCS1_DANRE",
            "refseq_ac": "NP_957476",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial chaperone BCS1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "BC1 (ubiquinol-cytochrome c reductase) synthesis-like",
                    "type": "synonym"
                },
                {
                    "name": "BCS1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial chaperone BCS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bcs1l",
                    "type": "recommended"
                },
                {
                    "name": "bcs1l",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56205",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZV60-1",
            "evidence": [
                {
                    "id": "0050677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050677"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CZP5-1",
            "uniprot_ac": "Q9CZP5",
            "uniprot_id": "BCS1_MOUSE",
            "refseq_ac": "NP_001292581",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial chaperone BCS1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "BCS1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial chaperone BCS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcs1l",
                    "type": "recommended"
                },
                {
                    "name": "9130022O19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bcs1l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CZP5-1",
            "evidence": [
                {
                    "id": "0050677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050677"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y276-1",
            "uniprot_ac": "Q9Y276",
            "uniprot_id": "BCS1_HUMAN",
            "refseq_ac": "NP_001073335",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial chaperone BCS1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "BC1 (ubiquinol-cytochrome c reductase) synthesis-like",
                    "type": "synonym"
                },
                {
                    "name": "BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone",
                    "type": "synonym"
                },
                {
                    "name": "BCS1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "h-BCS1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial chaperone BCS1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial chaperone BCS1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial complex III assembly",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BCS1L",
                    "type": "recommended"
                },
                {
                    "name": "BCS1L",
                    "type": "synonym"
                },
                {
                    "name": "BCS1",
                    "type": "synonym"
                },
                {
                    "name": "BCS",
                    "type": "synonym"
                },
                {
                    "name": "BJS",
                    "type": "synonym"
                },
                {
                    "name": "FLNMS",
                    "type": "synonym"
                },
                {
                    "name": "GRACILE",
                    "type": "synonym"
                },
                {
                    "name": "Hs.6719",
                    "type": "synonym"
                },
                {
                    "name": "MC3DN1",
                    "type": "synonym"
                },
                {
                    "name": "PTD",
                    "type": "synonym"
                },
                {
                    "name": "h-BCS1",
                    "type": "synonym"
                },
                {
                    "name": "h-BCS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y276-1",
            "evidence": [
                {
                    "id": "262000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/262000"
                },
                {
                    "id": "0050677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050677"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32839-1",
            "uniprot_ac": "P32839",
            "uniprot_id": "BCS1_YEAST",
            "refseq_ac": "NP_010663",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial chaperone BCS1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional AAA family ATPase chaperone/translocase BCS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BCS1",
                    "type": "recommended"
                },
                {
                    "name": "BCS1",
                    "type": "synonym"
                },
                {
                    "name": "D9481.17",
                    "type": "synonym"
                }
            ],
            "record_id": "P32839-1",
            "evidence": [
                {
                    "id": "0050677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050677"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL22-1",
            "uniprot_ac": "Q9VL22",
            "uniprot_id": "Q9VL22_DROME",
            "refseq_ac": "NP_609358",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial chaperone BCS1",
                    "type": "recommended"
                },
                {
                    "name": "BCS1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Bcs1 chaperone, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Bcs1-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG4908-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcs1",
                    "type": "recommended"
                },
                {
                    "name": "Bcs1",
                    "type": "synonym"
                },
                {
                    "name": "CG4908",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4908",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4908",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VL22-1",
            "evidence": [
                {
                    "id": "0050677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050677"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050677"
}