{
    "disease_id": "DOID:0111375",
    "recommended_name": {
        "id": "DOID:0111375",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0111375",
            "name": "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111375",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111375",
            "name": "FADS",
            "description": ""
        },
        {
            "id": "DOID:0111375",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111375",
            "name": "Pena-Shokeir syndrome type 1",
            "description": ""
        },
        {
            "id": "DOID:0111375",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111375",
            "name": "fetal akinesia sequence",
            "description": ""
        },
        {
            "id": "DOID:0111375",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111375",
            "name": "foetal akinesia deformation sequence syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111375",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111375",
            "name": "foetal akinesia sequence",
            "description": ""
        },
        {
            "id": "MONDO:0008824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008824",
            "name": "fetal akinesia deformation sequence",
            "description": "Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures ( arthrogryposis ), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes."
        },
        {
            "id": "MONDO:0008824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008824",
            "name": "Pena-Shokeir syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008824",
            "name": "FADS",
            "description": ""
        },
        {
            "id": "MONDO:0008824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008824",
            "name": "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008824",
            "name": "Pena-Shokeir syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008824",
            "name": "arthrogryposis multiplex congenita with pulmonary hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008824",
            "name": "fetal akinesia sequence",
            "description": ""
        },
        {
            "id": "MONDO:0008824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008824",
            "name": "fetal akinesia deformation sequence",
            "description": ""
        },
        {
            "id": "MONDO:0008824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008824",
            "name": "fetal akinesia deformation sequence; FADS",
            "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"
        }
    ]
}