{
    "disease_id": "DOID:0060469",
    "recommended_name": {
        "id": "DOID:0060469",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060469",
        "name": "Miller-Dieker lissencephaly syndrome",
        "description": "A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060469",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060469",
            "name": "MDS",
            "description": ""
        },
        {
            "id": "DOID:0060469",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060469",
            "name": "Miller-Dieker syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "Miller-Dieker lissencephaly syndrome",
            "description": "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip."
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "MDLS",
            "description": ""
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "monosomy 17p13.3",
            "description": ""
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "Miller-Dieker syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "Miller-Dieker lissencephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "telomeric deletion 17p",
            "description": ""
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "Miller-Dieker syndrome chromosome region",
            "description": ""
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "lissencephaly due to 17p13.3 deletion",
            "description": ""
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "MDS",
            "description": ""
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "chromosome 17P13.3 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009532",
            "name": "MILLER-Dieker lissencephaly syndrome; MDLS",
            "description": ""
        },
        {
            "id": "MIM:247200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/247200",
            "name": "Miller-Dieker lissencephaly syndrome",
            "description": "Miller-Dieker lissencephaly syndrome"
        }
    ]
}