{
    "disease_id": "DOID:0112299",
    "recommended_name": {
        "id": "DOID:0112299",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112299",
        "name": "axial spondylometaphyseal dysplasia",
        "description": "A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112299",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112299",
            "name": "SMDAX",
            "description": ""
        },
        {
            "id": "DOID:0112299",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112299",
            "name": "SMD axial",
            "description": ""
        },
        {
            "id": "MONDO:0011211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011211",
            "name": "axial spondylometaphyseal dysplasia",
            "description": "Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion."
        },
        {
            "id": "MONDO:0011211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011211",
            "name": "SMDAX",
            "description": ""
        },
        {
            "id": "MONDO:0011211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011211",
            "name": "SmD axial",
            "description": ""
        },
        {
            "id": "MONDO:0011211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011211",
            "name": "SmD, axial",
            "description": ""
        },
        {
            "id": "MONDO:0011211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011211",
            "name": "axial SmD",
            "description": ""
        },
        {
            "id": "MONDO:0011211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011211",
            "name": "spondylometaphyseal dysplasia axial type",
            "description": ""
        },
        {
            "id": "MONDO:0011211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011211",
            "name": "spondylometaphyseal dysplasia, axial",
            "description": ""
        },
        {
            "id": "MIM:602271",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602271",
            "name": "Spondylometaphyseal dysplasia, axial",
            "description": "Spondylometaphyseal dysplasia, axial"
        }
    ]
}