{
    "disease_id": "DOID:0090116",
    "recommended_name": {
        "id": "DOID:0090116",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090116",
        "name": "spondylocarpotarsal synostosis syndrome",
        "description": "A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3."
    },
    "synonyms": [
        {
            "id": "DOID:0090116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090116",
            "name": "congenital scoliosis with unilateral unsegmented bar",
            "description": ""
        },
        {
            "id": "DOID:0090116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090116",
            "name": "SCT",
            "description": ""
        },
        {
            "id": "DOID:0090116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090116",
            "name": "congenital synspondylism",
            "description": ""
        },
        {
            "id": "DOID:0090116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090116",
            "name": "spondylocarpotarsal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090116",
            "name": "spondylocarpotarsal synostosis",
            "description": ""
        },
        {
            "id": "DOID:0090116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090116",
            "name": "vertebral fusion with carpal coalition",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "spondylocarpotarsal synostosis syndrome",
            "description": "Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism."
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "SCT",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "Synspondylism",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "spondylocarpotarsal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "spondylocarpotarsal synostosis",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "spondylocarpotarsal synostosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "vertebral fusion with carpal coalition",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "Synspondylism congenital",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "scoliosis, congenital with unilateral unsegmented bar",
            "description": ""
        },
        {
            "id": "MIM:272460",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/272460",
            "name": "Spondylocarpotarsal synostosis syndrome",
            "description": "Spondylocarpotarsal synostosis syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090116"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090116",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090116",
            "categories": []
        },
        {
            "id": "MONDO:0010094",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "categories": []
        },
        {
            "id": "MIM:272460",
            "database": "MIM",
            "url": "https://www.omim.org/entry/272460",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7H9-1",
            "uniprot_ac": "A0ACD6B7H9",
            "uniprot_id": "A0ACD6B7H9_DANRE",
            "refseq_ac": "XP_005162977",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Slow myosin heavy chain 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "slow myosin heavy chain 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "smyhc1",
                    "type": "recommended"
                },
                {
                    "name": "fb18g10",
                    "type": "synonym"
                },
                {
                    "name": "im:6897999",
                    "type": "synonym"
                },
                {
                    "name": "smyhc1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb18g10",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7H9-1",
            "evidence": [
                {
                    "id": "0090116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090116"
                }
            ]
        },
        {
            "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": "0090116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090116"
                }
            ]
        },
        {
            "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": "0090116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02566-1",
            "uniprot_ac": "Q02566",
            "uniprot_id": "MYH6_MOUSE",
            "refseq_ac": "NP_001157643",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-6",
                    "type": "recommended"
                },
                {
                    "name": "MyHC-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain 6",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, cardiac muscle alpha isoform",
                    "type": "synonym"
                },
                {
                    "name": "alpha cardiac MHC",
                    "type": "synonym"
                },
                {
                    "name": "alpha myosin",
                    "type": "synonym"
                },
                {
                    "name": "cardiomyopathy, hypertrophic 1",
                    "type": "synonym"
                },
                {
                    "name": "myHC-alpha",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain 6",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain, cardiac muscle, adult",
                    "type": "synonym"
                },
                {
                    "name": "myosin-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myh6",
                    "type": "recommended"
                },
                {
                    "name": "A830009F23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Myh6",
                    "type": "synonym"
                },
                {
                    "name": "Myhc-a",
                    "type": "synonym"
                },
                {
                    "name": "Myhca",
                    "type": "synonym"
                },
                {
                    "name": "alpha-MHC",
                    "type": "synonym"
                },
                {
                    "name": "alphaMHC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02566-1",
            "evidence": [
                {
                    "id": "0090116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91Z83-1",
            "uniprot_ac": "Q91Z83",
            "uniprot_id": "MYH7_MOUSE",
            "refseq_ac": "NP_542766",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-7",
                    "type": "recommended"
                },
                {
                    "name": "MyHC-beta",
                    "type": "synonym"
                },
                {
                    "name": "MyHC-slow",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain 7",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain slow isoform",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, cardiac muscle beta isoform",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain 7",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain, cardiac muscle, fetal",
                    "type": "synonym"
                },
                {
                    "name": "myosin-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myh7",
                    "type": "recommended"
                },
                {
                    "name": "B-MHC",
                    "type": "synonym"
                },
                {
                    "name": "MYH-beta/slow",
                    "type": "synonym"
                },
                {
                    "name": "MyHC-I",
                    "type": "synonym"
                },
                {
                    "name": "Myh7",
                    "type": "synonym"
                },
                {
                    "name": "Myhc-b",
                    "type": "synonym"
                },
                {
                    "name": "Myhcb",
                    "type": "synonym"
                },
                {
                    "name": "beta-MHC",
                    "type": "synonym"
                },
                {
                    "name": "betaMHC",
                    "type": "synonym"
                },
                {
                    "name": "myHC-beta",
                    "type": "synonym"
                },
                {
                    "name": "myHC-slow",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91Z83-1",
            "evidence": [
                {
                    "id": "0090116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090116"
                }
            ]
        },
        {
            "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": "272460",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/272460"
                },
                {
                    "id": "0090116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08964-1",
            "uniprot_ac": "P08964",
            "uniprot_id": "MYO1_YEAST",
            "refseq_ac": "NP_011888",
            "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": "Myosin-1",
                    "type": "recommended"
                },
                {
                    "name": "Type II myosin",
                    "type": "synonym"
                },
                {
                    "name": "myosin 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYO1",
                    "type": "recommended"
                },
                {
                    "name": "MYO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P08964-1",
            "evidence": [
                {
                    "id": "0090116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090116"
                }
            ]
        },
        {
            "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": "0090116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02564-1",
            "uniprot_ac": "P02564",
            "uniprot_id": "MYH7_RAT",
            "refseq_ac": "NP_058936",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-7",
                    "type": "recommended"
                },
                {
                    "name": "MyHC-beta",
                    "type": "synonym"
                },
                {
                    "name": "MyHC-slow",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain 7",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain slow isoform",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, cardiac muscle beta isoform",
                    "type": "synonym"
                },
                {
                    "name": "beta myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain polypeptide 7 cardiac muscle fetal",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain, cardiac muscle, fetal",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain, polypeptide 7",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy chain 7, cardiac muscle, beta",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy polypeptide 7, cardiac muscle, beta",
                    "type": "synonym"
                },
                {
                    "name": "myosin-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myh7",
                    "type": "recommended"
                },
                {
                    "name": "Bmyo",
                    "type": "synonym"
                },
                {
                    "name": "Myh7",
                    "type": "synonym"
                },
                {
                    "name": "Myhcb",
                    "type": "synonym"
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}