{
    "disease_id": "DOID:0060485",
    "recommended_name": {
        "id": "DOID:0060485",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060485",
        "name": "Mowat-Wilson syndrome",
        "description": "A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060485",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060485",
            "name": "Hirschsprung disease mental retardation syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060485",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060485",
            "name": "microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "Mowat-Wilson syndrome",
            "description": "Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations."
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "Hirschsprung disease intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "Hirschsprung disease-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "Mowat-Wilson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "Hirschsprung disease-mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "MOWS",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease",
            "description": ""
        },
        {
            "id": "MIM:235730",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/235730",
            "name": "Mowat-Wilson syndrome",
            "description": "Mowat-Wilson syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060485"
    ],
    "unlinked_id_list": []
}