{
    "disease_id": "DOID:0050680",
    "recommended_name": {
        "id": "DOID:0050680",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050680",
        "name": "Boomerang dysplasia",
        "description": "An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14."
    },
    "synonyms": [
        {
            "id": "MONDO:0007208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007208",
            "name": "Boomerang dysplasia",
            "description": "A rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing."
        },
        {
            "id": "MONDO:0007208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007208",
            "name": "Boomerang dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007208",
            "name": "Boomerang-like skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007208",
            "name": "dwarfism with short, bowed, rigid limbs and characteristic facies",
            "description": ""
        },
        {
            "id": "MIM:112310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/112310",
            "name": "Boomerang dysplasia",
            "description": "Boomerang dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050680"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050680",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050680",
            "categories": []
        },
        {
            "id": "MONDO:0007208",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007208",
            "categories": []
        },
        {
            "id": "MIM:112310",
            "database": "MIM",
            "url": "https://www.omim.org/entry/112310",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QGL5-1",
            "uniprot_ac": "F1QGL5",
            "uniprot_id": "F1QGL5_DANRE",
            "refseq_ac": "XP_021325608",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-B isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "flnbb",
                    "type": "recommended"
                },
                {
                    "name": "flnbb",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QGL5-1",
            "evidence": [
                {
                    "id": "0050680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050680"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80X90-1",
            "uniprot_ac": "Q80X90",
            "uniprot_id": "FLNB_MOUSE",
            "refseq_ac": "NP_001074896",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-B",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Beta-filamin",
                    "type": "synonym"
                },
                {
                    "name": "FLN-B",
                    "type": "synonym"
                },
                {
                    "name": "actin binding protein 278",
                    "type": "synonym"
                },
                {
                    "name": "actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "beta-filamin",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B isoform a",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flnb",
                    "type": "recommended"
                },
                {
                    "name": "Fln-b",
                    "type": "synonym"
                },
                {
                    "name": "Flnb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80X90-1",
            "evidence": [
                {
                    "id": "0050680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050680"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75369-1",
            "uniprot_ac": "O75369",
            "uniprot_id": "FLNB_HUMAN",
            "refseq_ac": "NP_001157789",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-B",
                    "type": "recommended"
                },
                {
                    "name": "ABP-278",
                    "type": "synonym"
                },
                {
                    "name": "ABP-280 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Beta-filamin",
                    "type": "synonym"
                },
                {
                    "name": "FLN-B",
                    "type": "synonym"
                },
                {
                    "name": "Fh1",
                    "type": "synonym"
                },
                {
                    "name": "Filamin homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-3",
                    "type": "synonym"
                },
                {
                    "name": "Larsen syndrome 1 (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid autoantigen",
                    "type": "synonym"
                },
                {
                    "name": "Truncated ABP",
                    "type": "synonym"
                },
                {
                    "name": "Truncated actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "actin binding protein 278",
                    "type": "synonym"
                },
                {
                    "name": "actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "beta-filamin",
                    "type": "synonym"
                },
                {
                    "name": "filamin B, beta",
                    "type": "synonym"
                },
                {
                    "name": "filamin homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-3",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "thyroid autoantigen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FLNB",
                    "type": "recommended"
                },
                {
                    "name": "ABP-278",
                    "type": "synonym"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "FH1",
                    "type": "synonym"
                },
                {
                    "name": "FLN-B",
                    "type": "synonym"
                },
                {
                    "name": "FLN1L",
                    "type": "synonym"
                },
                {
                    "name": "FLN3",
                    "type": "synonym"
                },
                {
                    "name": "FLNB",
                    "type": "synonym"
                },
                {
                    "name": "LRS1",
                    "type": "synonym"
                },
                {
                    "name": "TABP",
                    "type": "synonym"
                },
                {
                    "name": "TAP",
                    "type": "synonym"
                }
            ],
            "record_id": "O75369-1",
            "evidence": [
                {
                    "id": "112310",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/112310"
                },
                {
                    "id": "0050680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050680"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JXT8-1",
            "uniprot_ac": "A0A0G2JXT8",
            "uniprot_id": "A0A0G2JXT8_RAT",
            "refseq_ac": "NP_001418475",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin B",
                    "type": "synonym"
                },
                {
                    "name": "filamin B, beta",
                    "type": "synonym"
                },
                {
                    "name": "filamin, beta",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flnb",
                    "type": "recommended"
                },
                {
                    "name": "Flnb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JXT8-1",
            "evidence": [
                {
                    "id": "0050680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050680"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52020-1",
            "uniprot_ac": "P52020",
            "uniprot_id": "ERG1_RAT",
            "refseq_ac": "NP_058832",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Squalene monooxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.17",
                    "type": "synonym"
                },
                {
                    "name": "SE",
                    "type": "synonym"
                },
                {
                    "name": "Squalene epoxidase",
                    "type": "synonym"
                },
                {
                    "name": "squalene monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sqle",
                    "type": "recommended"
                },
                {
                    "name": "Erg1",
                    "type": "synonym"
                },
                {
                    "name": "Sqle",
                    "type": "synonym"
                }
            ],
            "record_id": "P52020-1",
            "evidence": [
                {
                    "id": "0050680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050680"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEN1-1",
            "uniprot_ac": "Q9VEN1",
            "uniprot_id": "FLNA_DROME",
            "refseq_ac": "NP_001262656",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-A",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "CG3937-PK",
                    "type": "synonym"
                },
                {
                    "name": "FLN-A",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-1",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-A",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-B",
                    "type": "synonym"
                },
                {
                    "name": "Filamin1",
                    "type": "synonym"
                },
                {
                    "name": "cheerio, isoform K",
                    "type": "synonym"
                },
                {
                    "name": "cheerio",
                    "type": "synonym"
                },
                {
                    "name": "cher-PK",
                    "type": "synonym"
                },
                {
                    "name": "cherrio",
                    "type": "synonym"
                },
                {
                    "name": "filamin B",
                    "type": "synonym"
                },
                {
                    "name": "filamin isoform B",
                    "type": "synonym"
                },
                {
                    "name": "filamin-240",
                    "type": "synonym"
                },
                {
                    "name": "shi kong",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cher",
                    "type": "recommended"
                },
                {
                    "name": "CG3937",
                    "type": "synonym"
                },
                {
                    "name": "Cheerio",
                    "type": "synonym"
                },
                {
                    "name": "Cher",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3937",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3937",
                    "type": "synonym"
                },
                {
                    "name": "FLN90",
                    "type": "synonym"
                },
                {
                    "name": "FLN",
                    "type": "synonym"
                },
                {
                    "name": "Fil",
                    "type": "synonym"
                },
                {
                    "name": "cheerio",
                    "type": "synonym"
                },
                {
                    "name": "cher",
                    "type": "synonym"
                },
                {
                    "name": "dFil",
                    "type": "synonym"
                },
                {
                    "name": "filamin",
                    "type": "synonym"
                },
                {
                    "name": "joy",
                    "type": "synonym"
                },
                {
                    "name": "sko",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEN1-1",
            "evidence": [
                {
                    "id": "0050680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050680"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050680"
}