{
    "disease_id": "DOID:0111375",
    "recommended_name": {
        "id": "DOID:0111375",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111375",
        "name": "fetal akinesia deformation sequence syndrome",
        "description": "A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction."
    },
    "synonyms": [
        {
            "id": "DOID:0111375",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111375",
            "name": "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111375",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111375",
            "name": "FADS",
            "description": ""
        },
        {
            "id": "DOID:0111375",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111375",
            "name": "Pena-Shokeir syndrome type 1",
            "description": ""
        },
        {
            "id": "DOID:0111375",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111375",
            "name": "fetal akinesia sequence",
            "description": ""
        },
        {
            "id": "DOID:0111375",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111375",
            "name": "foetal akinesia deformation sequence syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111375",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111375",
            "name": "foetal akinesia sequence",
            "description": ""
        },
        {
            "id": "MONDO:0100101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100101",
            "name": "fetal akinesia deformation sequence 1",
            "description": "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene."
        },
        {
            "id": "MONDO:0100101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100101",
            "name": "FADS1",
            "description": ""
        },
        {
            "id": "MONDO:0100101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100101",
            "name": "Pena-Shokeir syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100101",
            "name": "Pena-Shokeir syndrome, type 1",
            "description": ""
        },
        {
            "id": "MIM:208150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/208150",
            "name": "Fetal akinesia deformation sequence 1",
            "description": "Fetal akinesia deformation sequence 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0111376",
            "label": "fetal akinesia deformation sequence syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111377",
            "label": "fetal akinesia deformation sequence syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111378",
            "label": "fetal akinesia deformation sequence syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111379",
            "label": "fetal akinesia deformation sequence syndrome 4",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111375",
        "DOID:0111378",
        "DOID:0111379",
        "DOID:0111377",
        "DOID:0111376"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111375",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111375",
            "categories": []
        },
        {
            "id": "MONDO:0100101",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100101",
            "categories": []
        },
        {
            "id": "MIM:208150",
            "database": "MIM",
            "url": "https://www.omim.org/entry/208150",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O15146-1",
            "uniprot_ac": "O15146",
            "uniprot_id": "MUSK_HUMAN",
            "refseq_ac": "NP_001159752",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscle, skeletal receptor tyrosine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "MuSK",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific kinase receptor",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific tyrosine-protein kinase receptor",
                    "type": "synonym"
                },
                {
                    "name": "muscle, skeletal receptor tyrosine-protein kinase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "muscle, skeletal receptor tyrosine-protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "muscle, skeletal, receptor tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific kinase receptor",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific tyrosine-protein kinase receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MUSK",
                    "type": "recommended"
                },
                {
                    "name": "CMS9",
                    "type": "synonym"
                },
                {
                    "name": "FADS",
                    "type": "synonym"
                },
                {
                    "name": "MUSK",
                    "type": "synonym"
                }
            ],
            "record_id": "O15146-1",
            "evidence": [
                {
                    "id": "208150",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/208150"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111375"
}