{
    "disease_id": "DOID:0112298",
    "recommended_name": {
        "id": "DOID:0112298",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112298",
        "name": "spondylometaphyseal dysplasia Sedaghatian type",
        "description": "A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112298",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112298",
            "name": "SMDS",
            "description": ""
        },
        {
            "id": "DOID:0112298",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112298",
            "name": "Sedaghatian chondrodysplasia",
            "description": ""
        },
        {
            "id": "DOID:0112298",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112298",
            "name": "congenital lethal metaphyseal chondrodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009593",
            "name": "spondylometaphyseal dysplasia, Sedaghatian type",
            "description": "Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly."
        },
        {
            "id": "MONDO:0009593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009593",
            "name": "spondylometaphyseal dysplasia, Sedaghatian type",
            "description": ""
        },
        {
            "id": "MONDO:0009593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009593",
            "name": "SMDS",
            "description": ""
        },
        {
            "id": "MONDO:0009593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009593",
            "name": "Sedaghatian chondrodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009593",
            "name": "lethal metaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009593",
            "name": "metaphyseal chondrodysplasia, congenital lethal",
            "description": ""
        },
        {
            "id": "MONDO:0009593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009593",
            "name": "spondylometaphyseal dysplasia Sedaghatian type",
            "description": ""
        },
        {
            "id": "MIM:250220",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/250220",
            "name": "Spondylometaphyseal dysplasia, Sedaghatian type",
            "description": "Spondylometaphyseal dysplasia, Sedaghatian type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112298"
    ],
    "unlinked_id_list": []
}