{
    "disease_id": "DOID:0112171",
    "recommended_name": {
        "id": "DOID:0112171",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112171",
        "name": "wrinkly skin syndrome",
        "description": "A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31."
    },
    "synonyms": [
        {
            "id": "DOID:0112171",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112171",
            "name": "WSS",
            "description": ""
        },
        {
            "id": "MONDO:0010208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010208",
            "name": "wrinkly skin syndrome",
            "description": "A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)."
        },
        {
            "id": "MONDO:0010208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010208",
            "name": "WSS",
            "description": ""
        },
        {
            "id": "MONDO:0010208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010208",
            "name": "wrinkled skin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010208",
            "name": "wrinkly skin syndrome",
            "description": ""
        },
        {
            "id": "MIM:278250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/278250",
            "name": "Wrinkly skin syndrome",
            "description": "Wrinkly skin syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112171"
    ],
    "unlinked_id_list": []
}