{
    "disease_id": "DOID:0111786",
    "recommended_name": {
        "id": "DOID:0111786",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111786",
        "name": "frontometaphyseal dysplasia 1",
        "description": "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0111786",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111786",
            "name": "FMD1",
            "description": ""
        },
        {
            "id": "MONDO:0024550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "name": "frontometaphyseal dysplasia 1",
            "description": "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene."
        },
        {
            "id": "MONDO:0024550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "name": "FLNA frontometaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0024550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "name": "frontometaphyseal dysplasia 1, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0024550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "name": "frontometaphyseal dysplasia caused by mutation in FLNA",
            "description": ""
        },
        {
            "id": "MONDO:0024550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "name": "FMD1",
            "description": ""
        },
        {
            "id": "MIM:305620",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/305620",
            "name": "Frontometaphyseal dysplasia 1",
            "description": "Frontometaphyseal dysplasia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111786"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111786",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111786",
            "categories": []
        },
        {
            "id": "MONDO:0024550",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "categories": []
        },
        {
            "id": "MIM:305620",
            "database": "MIM",
            "url": "https://www.omim.org/entry/305620",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AYA1-1",
            "uniprot_ac": "A0A8M3AYA1",
            "uniprot_id": "A0A8M3AYA1_DANRE",
            "refseq_ac": "XP_009295045",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-A isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "flna",
                    "type": "recommended"
                },
                {
                    "name": "flna",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AYA1-1",
            "evidence": [
                {
                    "id": "0111786",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111786"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BTM8-1",
            "uniprot_ac": "Q8BTM8",
            "uniprot_id": "FLNA_MOUSE",
            "refseq_ac": "NP_001390993",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-A",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-filamin",
                    "type": "synonym"
                },
                {
                    "name": "Endothelial actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "FLN-A",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-1",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle filamin",
                    "type": "synonym"
                },
                {
                    "name": "actin-binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "dilated pupils 2",
                    "type": "synonym"
                },
                {
                    "name": "endothelial actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "filamin-A isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "filamin-A",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle filamin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flna",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "Dilp2",
                    "type": "synonym"
                },
                {
                    "name": "F730004A14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fln1",
                    "type": "synonym"
                },
                {
                    "name": "Flna",
                    "type": "synonym"
                },
                {
                    "name": "Fln",
                    "type": "synonym"
                },
                {
                    "name": "GENA 379",
                    "type": "synonym"
                },
                {
                    "name": "filamin-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BTM8-1",
            "evidence": [
                {
                    "id": "0111786",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111786"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21333-1",
            "uniprot_ac": "P21333",
            "uniprot_id": "FLNA_HUMAN",
            "refseq_ac": "NP_001104026",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-A",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-filamin",
                    "type": "synonym"
                },
                {
                    "name": "Endothelial actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "FLN-A",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-1",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle filamin",
                    "type": "synonym"
                },
                {
                    "name": "actin binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "alpha-filamin",
                    "type": "synonym"
                },
                {
                    "name": "endothelial actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "filamin A, alpha",
                    "type": "synonym"
                },
                {
                    "name": "filamin-1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle filamin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FLNA",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "ABPX",
                    "type": "synonym"
                },
                {
                    "name": "CSBS",
                    "type": "synonym"
                },
                {
                    "name": "CVD1",
                    "type": "synonym"
                },
                {
                    "name": "FGS2",
                    "type": "synonym"
                },
                {
                    "name": "FLN-A",
                    "type": "synonym"
                },
                {
                    "name": "FLN1",
                    "type": "synonym"
                },
                {
                    "name": "FLNA",
                    "type": "synonym"
                },
                {
                    "name": "FLN",
                    "type": "synonym"
                },
                {
                    "name": "FMD",
                    "type": "synonym"
                },
                {
                    "name": "MNS",
                    "type": "synonym"
                },
                {
                    "name": "NHBP",
                    "type": "synonym"
                },
                {
                    "name": "OPD1",
                    "type": "synonym"
                },
                {
                    "name": "OPD2",
                    "type": "synonym"
                },
                {
                    "name": "OPD",
                    "type": "synonym"
                },
                {
                    "name": "XLVD",
                    "type": "synonym"
                },
                {
                    "name": "XMVD",
                    "type": "synonym"
                }
            ],
            "record_id": "P21333-1",
            "evidence": [
                {
                    "id": "305620",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/305620"
                },
                {
                    "id": "0111786",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111786"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZV49-1",
            "uniprot_ac": "A0A8I5ZV49",
            "uniprot_id": "A0A8I5ZV49_RAT",
            "refseq_ac": "NP_001420880",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelial actin-binding protein 280)",
                    "type": "synonym"
                },
                {
                    "name": "Filamin A",
                    "type": "synonym"
                },
                {
                    "name": "actin binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "filamin A, alpha",
                    "type": "synonym"
                },
                {
                    "name": "filamin, alpha",
                    "type": "synonym"
                },
                {
                    "name": "filamin-A isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flna",
                    "type": "recommended"
                },
                {
                    "name": "Flna",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560614",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZV49-1",
            "evidence": [
                {
                    "id": "0111786",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111786"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PU79-1",
            "uniprot_ac": "E9PU79",
            "uniprot_id": "E9PU79_RAT",
            "refseq_ac": "NP_062044",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Salivary protein 1",
                    "type": "synonym"
                },
                {
                    "name": "salivary protein 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spt1",
                    "type": "recommended"
                },
                {
                    "name": "LOC102555445",
                    "type": "synonym"
                },
                {
                    "name": "LOC134479615",
                    "type": "synonym"
                },
                {
                    "name": "Spt1l1",
                    "type": "synonym"
                },
                {
                    "name": "Spt1",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PU79-1",
            "evidence": [
                {
                    "id": "0111786",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111786"
                }
            ]
        },
        {
            "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": "0111786",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111786"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111786"
}