{
    "disease_id": "DOID:0112243",
    "recommended_name": {
        "id": "DOID:0112243",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112243",
        "name": "congenital symmetric circumferential skin creases 2",
        "description": "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112243",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112243",
            "name": "CSCSC2",
            "description": ""
        },
        {
            "id": "MONDO:0014755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014755",
            "name": "skin creases, congenital symmetric circumferential, 2",
            "description": ""
        },
        {
            "id": "MONDO:0014755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014755",
            "name": "CSCSC2",
            "description": ""
        },
        {
            "id": "MONDO:0014755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014755",
            "name": "MAPRE2 multiple benign circumferential skin creases on limbs",
            "description": ""
        },
        {
            "id": "MONDO:0014755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014755",
            "name": "multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2",
            "description": ""
        },
        {
            "id": "MONDO:0014755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014755",
            "name": "skin creases, congenital symmetric circumferential, 2",
            "description": ""
        },
        {
            "id": "MONDO:0014755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014755",
            "name": "skin creases, congenital symmetric circumferential, 2; CSCSC2",
            "description": ""
        },
        {
            "id": "MONDO:0014755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014755",
            "name": "skin creases, congenital symmetric circumferential, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014755",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014755",
            "name": "symmetric circumferential skin creases, congenital, 2",
            "description": ""
        },
        {
            "id": "MIM:616734",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616734",
            "name": "Skin creases, congenital symmetric circumferential, 2",
            "description": "Skin creases, congenital symmetric circumferential, 2"
        }
    ]
}