{
    "disease_id": "DOID:0060349",
    "recommended_name": {
        "id": "DOID:0060349",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060349",
        "name": "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation",
        "description": "A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability."
    },
    "synonyms": [
        {
            "id": "DOID:0060349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060349",
            "name": "lymphedema, microcephaly and chorioretinopathy syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060349",
            "name": "lymphedema and retinal folds with ficrocephaly and microphthalmos",
            "description": ""
        },
        {
            "id": "DOID:0060349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060349",
            "name": "microcephaly lymphedema chorioretinal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0060349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060349",
            "name": "chorioretinal dysplasia-microcephaly-mental retardation syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060349",
            "name": "microcephaly, lymphedema, chorioretinal dysplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability",
            "description": "A microcephaly caused by a mutation in KIF11 gene and follows autosomal dominant inheritance. It is characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability."
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "KIF11-associated disorder",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "MCLMR",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "MLCRD",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "MLCRD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "lymphedema, microcephaly and chorioretinopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "microcephaly, lymphedema, chorioretinal dysplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "KIF11 disease",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:152950",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/152950",
            "name": "Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development",
            "description": "Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060349"
    ],
    "unlinked_id_list": []
}