{
    "disease_id": "DOID:1930",
    "recommended_name": {
        "id": "DOID:1930",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:1930",
        "name": "Laurence-Moon syndrome",
        "description": "A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on chromosome 19p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:1930",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:1930",
            "name": "LNMS",
            "description": ""
        },
        {
            "id": "MONDO:0009514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009514",
            "name": "Laurence-Moon syndrome",
            "description": "Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy."
        },
        {
            "id": "MONDO:0009514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009514",
            "name": "LNMS",
            "description": ""
        },
        {
            "id": "MONDO:0009514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009514",
            "name": "Laurence-Moon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009514",
            "name": "Laurence-MOON syndrome; LNMS",
            "description": ""
        },
        {
            "id": "MONDO:0009514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009514",
            "name": "Laurence-Moon-Biedl syndrome",
            "description": ""
        },
        {
            "id": "MIM:245800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/245800",
            "name": "Laurence-Moon syndrome",
            "description": "Laurence-Moon syndrome"
        }
    ]
}
