{
    "disease_id": "DOID:0090124",
    "recommended_name": {
        "id": "DOID:0090124",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090124",
        "name": "neurogenic-type arthrogryposis multiplex congenita-2",
        "description": "An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35."
    },
    "synonyms": [
        {
            "id": "DOID:0090124",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090124",
            "name": "AMC neurogenic type",
            "description": ""
        },
        {
            "id": "DOID:0090124",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090124",
            "name": "AMCN",
            "description": ""
        },
        {
            "id": "DOID:0090124",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090124",
            "name": "arthrogryposis multiplex congenita neurogenic type",
            "description": ""
        },
        {
            "id": "DOID:0090124",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090124",
            "name": "AMC2",
            "description": ""
        },
        {
            "id": "DOID:0090124",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090124",
            "name": "arthrogryposis multiplex congenita 2, neurogenic type",
            "description": ""
        },
        {
            "id": "MONDO:0008823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008823",
            "name": "arthrogryposis multiplex congenita 2, neurogenic type",
            "description": "Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy."
        },
        {
            "id": "MONDO:0008823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008823",
            "name": "AMCN",
            "description": ""
        },
        {
            "id": "MONDO:0008823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008823",
            "name": "neurogenic arthrogryposis multiplex congenita",
            "description": ""
        },
        {
            "id": "MONDO:0008823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008823",
            "name": "arthrogryposis multiplex congenita, neurogenic type",
            "description": ""
        },
        {
            "id": "MONDO:0008823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008823",
            "name": "neurogenic type of AMC",
            "description": ""
        },
        {
            "id": "MIM:208100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/208100",
            "name": "Arthrogryposis multiplex congenita 2, neurogenic type",
            "description": "Arthrogryposis multiplex congenita 2, neurogenic type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090124"
    ],
    "unlinked_id_list": []
}