{
    "disease_id": "DOID:0081272",
    "recommended_name": {
        "id": "DOID:0081272",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081272",
        "name": "Sandestig-Stefanova syndrome",
        "description": "A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "MONDO:0032926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032926",
            "name": "sandestig-stefanova syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032926",
            "name": "SANDESTIG-STEFANOVA SYNDROME",
            "description": ""
        },
        {
            "id": "MONDO:0032926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032926",
            "name": "SANDSTEF",
            "description": ""
        },
        {
            "id": "MIM:618804",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618804",
            "name": "Sandestig-Stefanova syndrome",
            "description": "Sandestig-Stefanova syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081272"
    ],
    "unlinked_id_list": []
}