{
    "disease_id": "DOID:0081322",
    "recommended_name": {
        "id": "DOID:0081322",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081322",
        "name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B",
        "description": "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0081322",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081322",
            "name": "Autosomal recessive multiple pterygium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020746",
            "name": "contractures, pterygia, and variable skeletal fusions syndrome 1B",
            "description": ""
        },
        {
            "id": "MONDO:0020746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020746",
            "name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B",
            "description": ""
        },
        {
            "id": "MIM:618469",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618469",
            "name": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B",
            "description": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081322"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081322",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081322",
            "categories": []
        },
        {
            "id": "MONDO:0020746",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020746",
            "categories": []
        },
        {
            "id": "MIM:618469",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618469",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QEC8-1",
            "uniprot_ac": "A0A8M9QEC8",
            "uniprot_id": "A0A8M9QEC8_DANRE",
            "refseq_ac": "XP_005171981",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin, heavy polypeptide 1.2, skeletal muscle isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy polypeptide 1.2, skeletal muscle isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myhz1.2",
                    "type": "recommended"
                },
                {
                    "name": "fmyhc1.2",
                    "type": "synonym"
                },
                {
                    "name": "myhc3",
                    "type": "synonym"
                },
                {
                    "name": "myhz1.2",
                    "type": "synonym"
                },
                {
                    "name": "ns:zf-e523",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-158m24.8",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QEC8-1",
            "evidence": [
                {
                    "id": "0081322",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081322"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13541-1",
            "uniprot_ac": "P13541",
            "uniprot_id": "MYH3_MOUSE",
            "refseq_ac": "NP_001093105",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-3",
                    "type": "recommended"
                },
                {
                    "name": "Myosin heavy chain 3",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain 3",
                    "type": "synonym"
                },
                {
                    "name": "myosin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myh3",
                    "type": "recommended"
                },
                {
                    "name": "MyHC-emb",
                    "type": "synonym"
                },
                {
                    "name": "Myh3",
                    "type": "synonym"
                },
                {
                    "name": "Myhs-e",
                    "type": "synonym"
                },
                {
                    "name": "Myhse",
                    "type": "synonym"
                }
            ],
            "record_id": "P13541-1",
            "evidence": [
                {
                    "id": "0081322",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081322"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11055-1",
            "uniprot_ac": "P11055",
            "uniprot_id": "MYH3_HUMAN",
            "refseq_ac": "NP_002461",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-3",
                    "type": "recommended"
                },
                {
                    "name": "Muscle embryonic myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain 3",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, fast skeletal muscle, embryonic",
                    "type": "synonym"
                },
                {
                    "name": "SMHCE",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain, fast skeletal muscle, embryonic",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy chain 3, skeletal muscle, embryonic",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy polypeptide 3, skeletal muscle, embryonic",
                    "type": "synonym"
                },
                {
                    "name": "myosin, skeletal, heavy chain, embryonic 1",
                    "type": "synonym"
                },
                {
                    "name": "myosin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYH3",
                    "type": "recommended"
                },
                {
                    "name": "CPSFS1A",
                    "type": "synonym"
                },
                {
                    "name": "CPSFS1B",
                    "type": "synonym"
                },
                {
                    "name": "CPSKF1A",
                    "type": "synonym"
                },
                {
                    "name": "CPSKF1B",
                    "type": "synonym"
                },
                {
                    "name": "DA2A",
                    "type": "synonym"
                },
                {
                    "name": "DA2B3",
                    "type": "synonym"
                },
                {
                    "name": "DA2B",
                    "type": "synonym"
                },
                {
                    "name": "DA8",
                    "type": "synonym"
                },
                {
                    "name": "HEMHC",
                    "type": "synonym"
                },
                {
                    "name": "MYH3",
                    "type": "synonym"
                },
                {
                    "name": "MYHC-EMB",
                    "type": "synonym"
                },
                {
                    "name": "MYHSE1",
                    "type": "synonym"
                },
                {
                    "name": "SMHCE",
                    "type": "synonym"
                }
            ],
            "record_id": "P11055-1",
            "evidence": [
                {
                    "id": "618469",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618469"
                },
                {
                    "id": "0081322",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081322"
                }
            ]
        },
        {
            "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": "0081322",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081322"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12847-1",
            "uniprot_ac": "P12847",
            "uniprot_id": "MYH3_RAT",
            "refseq_ac": "NP_036736",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-3",
                    "type": "recommended"
                },
                {
                    "name": "Myosin heavy chain 3",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, fast skeletal muscle, embryonic",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain, fast skeletal muscle, embryonic",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy polypeptide 3",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy chain 3, skeletal muscle, embryonic",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy polypeptide 3, skeletal muscle, embryonic",
                    "type": "synonym"
                },
                {
                    "name": "myosin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myh3",
                    "type": "recommended"
                },
                {
                    "name": "Myh3",
                    "type": "synonym"
                },
                {
                    "name": "Myhse",
                    "type": "synonym"
                },
                {
                    "name": "RNMHCG",
                    "type": "synonym"
                }
            ],
            "record_id": "P12847-1",
            "evidence": [
                {
                    "id": "0081322",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081322"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05661-3",
            "uniprot_ac": "P05661",
            "uniprot_id": "MYSA_DROME",
            "refseq_ac": "NP_001162991",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin heavy chain, muscle",
                    "type": "recommended"
                },
                {
                    "name": "CG17927-PO",
                    "type": "synonym"
                },
                {
                    "name": "Mhc-PO",
                    "type": "synonym"
                },
                {
                    "name": "Not-upheld",
                    "type": "synonym"
                },
                {
                    "name": "Shrunken-thorax",
                    "type": "synonym"
                },
                {
                    "name": "beta-myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "indirect flight muscle (2) RU1",
                    "type": "synonym"
                },
                {
                    "name": "indirect flight muscle (2) RU2",
                    "type": "synonym"
                },
                {
                    "name": "muscle myosin II heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "muscle myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "muscle myosin-II",
                    "type": "synonym"
                },
                {
                    "name": "muscle specific myosin II",
                    "type": "synonym"
                },
                {
                    "name": "myosin HC",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy Chain-PF",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain, isoform O",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy-chain protein",
                    "type": "synonym"
                },
                {
                    "name": "myosin rod protein",
                    "type": "synonym"
                },
                {
                    "name": "myosin-heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "samba",
                    "type": "synonym"
                },
                {
                    "name": "sarcomeric myosin heavy-chain",
                    "type": "synonym"
                },
                {
                    "name": "shrunken thorax",
                    "type": "synonym"
                },
                {
                    "name": "stuckup",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mhc",
                    "type": "recommended"
                },
                {
                    "name": "Bsh",
                    "type": "synonym"
                },
                {
                    "name": "CG17927",
                    "type": "synonym"
                },
                {
                    "name": "DROMHC",
                    "type": "synonym"
                },
                {
                    "name": "Dm II",
                    "type": "synonym"
                },
                {
                    "name": "DmMHC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17927",
                    "type": "synonym"
                },
                {
                    "name": "DroMII",
                    "type": "synonym"
                },
                {
                    "name": "Ifm(2)2",
                    "type": "synonym"
                },
                {
                    "name": "Ifm(2)RU1",
                    "type": "synonym"
                },
                {
                    "name": "MHC",
                    "type": "synonym"
                },
                {
                    "name": "MRP",
                    "type": "synonym"
                },
                {
                    "name": "Mhc36B",
                    "type": "synonym"
                },
                {
                    "name": "Mhc",
                    "type": "synonym"
                },
                {
                    "name": "Mrp",
                    "type": "synonym"
                },
                {
                    "name": "MyHC",
                    "type": "synonym"
                },
                {
                    "name": "Myo6",
                    "type": "synonym"
                },
                {
                    "name": "Myosin",
                    "type": "synonym"
                },
                {
                    "name": "Myo",
                    "type": "synonym"
                },
                {
                    "name": "Nup",
                    "type": "synonym"
                },
                {
                    "name": "Sht",
                    "type": "synonym"
                },
                {
                    "name": "Stp",
                    "type": "synonym"
                },
                {
                    "name": "chr2L:16765388..16765564",
                    "type": "synonym"
                },
                {
                    "name": "chr2L:16781880..16782040",
                    "type": "synonym"
                },
                {
                    "name": "ifm(2)2",
                    "type": "synonym"
                },
                {
                    "name": "ifm(2)RU1",
                    "type": "synonym"
                },
                {
                    "name": "ifm(2)RU2",
                    "type": "synonym"
                },
                {
                    "name": "l(2)36Ae",
                    "type": "synonym"
                },
                {
                    "name": "l(2)M66",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k10423",
                    "type": "synonym"
                },
                {
                    "name": "mMHC",
                    "type": "synonym"
                },
                {
                    "name": "mhc",
                    "type": "synonym"
                },
                {
                    "name": "sMHC",
                    "type": "synonym"
                }
            ],
            "record_id": "P05661-3",
            "evidence": [
                {
                    "id": "0081322",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081322"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081322"
}