{
    "disease_id": "DOID:0111595",
    "recommended_name": {
        "id": "DOID:0111595",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111595",
        "name": "congenital contractural arachnodactyly",
        "description": "A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111595",
            "name": "Beals syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111595",
            "name": "Beals-Hecht syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111595",
            "name": "CCA",
            "description": ""
        },
        {
            "id": "DOID:0111595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111595",
            "name": "arachnodactyly, contractural Beals type",
            "description": ""
        },
        {
            "id": "DOID:0111595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111595",
            "name": "contractures, multiple with arachnodactyly",
            "description": ""
        },
        {
            "id": "DOID:0111595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111595",
            "name": "distal arthrogryposis type 9",
            "description": ""
        },
        {
            "id": "DOID:0111595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111595",
            "name": "ear anomalies-contractures-dysplasia of bone with kyphoscoliosis",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "congenital contractural arachnodactyly",
            "description": "Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia."
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "Beals syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "Beals-Hecht syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "CCA",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "CCA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "distal arthrogryposis type 9",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "DA9",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "arachnodactyly, contractural Beals type",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "arthrogryposis, distal, type 9",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "contractures, multiple with arachnodactyly",
            "description": ""
        },
        {
            "id": "MIM:121050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/121050",
            "name": "Contractural arachnodactyly, congenital",
            "description": "Contractural arachnodactyly, congenital"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111595"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111595",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111595",
            "categories": []
        },
        {
            "id": "MONDO:0007363",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "categories": []
        },
        {
            "id": "MIM:121050",
            "database": "MIM",
            "url": "https://www.omim.org/entry/121050",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B786-1",
            "uniprot_ac": "A0ACD6B786",
            "uniprot_id": "A0ACD6B786_DANRE",
            "refseq_ac": "XP_021325049",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrillin-2b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "fibrillin-2b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fbn3",
                    "type": "recommended"
                },
                {
                    "name": "fbn2b",
                    "type": "synonym"
                },
                {
                    "name": "fbn2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B786-1",
            "evidence": [
                {
                    "id": "0111595",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111595"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61555-1",
            "uniprot_ac": "Q61555",
            "uniprot_id": "FBN2_MOUSE",
            "refseq_ac": "NP_034311",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrillin-2",
                    "type": "recommended"
                },
                {
                    "name": "fibrillin-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "syndatyly ems",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbn2",
                    "type": "recommended"
                },
                {
                    "name": "Fbn-2",
                    "type": "synonym"
                },
                {
                    "name": "Fbn2",
                    "type": "synonym"
                },
                {
                    "name": "Fib-2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4226",
                    "type": "synonym"
                },
                {
                    "name": "sne",
                    "type": "synonym"
                },
                {
                    "name": "sy",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61555-1",
            "evidence": [
                {
                    "id": "0111595",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111595"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35556-1",
            "uniprot_ac": "P35556",
            "uniprot_id": "FBN2_HUMAN",
            "refseq_ac": "NP_001990",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrillin-2",
                    "type": "recommended"
                },
                {
                    "name": "fibrillin 5",
                    "type": "synonym"
                },
                {
                    "name": "fibrillin-2 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FBN2",
                    "type": "recommended"
                },
                {
                    "name": "CCA",
                    "type": "synonym"
                },
                {
                    "name": "DA9",
                    "type": "synonym"
                },
                {
                    "name": "EOMD",
                    "type": "synonym"
                },
                {
                    "name": "FBN2",
                    "type": "synonym"
                }
            ],
            "record_id": "P35556-1",
            "evidence": [
                {
                    "id": "121050",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/121050"
                },
                {
                    "id": "0111595",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111595"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M5Q4-1",
            "uniprot_ac": "F1M5Q4",
            "uniprot_id": "F1M5Q4_RAT",
            "refseq_ac": "NP_114014",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrillin-2",
                    "type": "recommended"
                },
                {
                    "name": "fibrillin-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibrillin-2-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbn2",
                    "type": "recommended"
                },
                {
                    "name": "Fbn2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M5Q4-1",
            "evidence": [
                {
                    "id": "0111595",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111595"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111595"
}