{
    "disease_id": "DOID:0111827",
    "recommended_name": {
        "id": "DOID:0111827",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111827",
        "name": "X-linked spinal muscular atrophy 2",
        "description": "A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111827",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111827",
            "name": "SMAX2",
            "description": ""
        },
        {
            "id": "DOID:0111827",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111827",
            "name": "X-linked distal arthrogryposis multiplex congenita",
            "description": ""
        },
        {
            "id": "DOID:0111827",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111827",
            "name": "X-linked spinal muscular atrophy type 2",
            "description": ""
        },
        {
            "id": "DOID:0111827",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111827",
            "name": "infantile-onset X-linked spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "DOID:0111827",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111827",
            "name": "spinal muscular atrophy with arthrogryposis",
            "description": ""
        },
        {
            "id": "MONDO:0010532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010532",
            "name": "infantile-onset X-linked spinal muscular atrophy",
            "description": "A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure."
        },
        {
            "id": "MONDO:0010532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010532",
            "name": "SMAX2",
            "description": ""
        },
        {
            "id": "MONDO:0010532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010532",
            "name": "X-linked distal arthrogryposis multiplex congenita",
            "description": ""
        },
        {
            "id": "MONDO:0010532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010532",
            "name": "X-linked spinal muscular atrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010532",
            "name": "spinal muscular atrophy with arthrogryposis",
            "description": ""
        },
        {
            "id": "MONDO:0010532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010532",
            "name": "spinal muscular atrophy, X-linked 2, infantile, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010532",
            "name": "spinal muscular atrophy, X-linked type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010532",
            "name": "spinal muscular atrophy, X-linked 2",
            "description": ""
        },
        {
            "id": "MIM:301830",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301830",
            "name": "Spinal muscular atrophy X-linked 2",
            "description": "Spinal muscular atrophy X-linked 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111827"
    ],
    "unlinked_id_list": []
}