{
    "disease_id": "DOID:0111590",
    "recommended_name": {
        "id": "DOID:0111590",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111590",
        "name": "Cohen syndrome",
        "description": "A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111590",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111590",
            "name": "COH1",
            "description": ""
        },
        {
            "id": "DOID:0111590",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111590",
            "name": "Hypotonia, obesity, and prominent incisors",
            "description": ""
        },
        {
            "id": "DOID:0111590",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111590",
            "name": "Pepper syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008999",
            "name": "Cohen syndrome",
            "description": "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity."
        },
        {
            "id": "MONDO:0008999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008999",
            "name": "Cohen syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008999",
            "name": "cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0008999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008999",
            "name": "COH1",
            "description": ""
        },
        {
            "id": "MONDO:0008999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008999",
            "name": "Chs1",
            "description": ""
        },
        {
            "id": "MIM:216550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/216550",
            "name": "Cohen syndrome",
            "description": "Cohen syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111590"
    ],
    "unlinked_id_list": []
}