{
    "disease_id": "DOID:0111510",
    "recommended_name": {
        "id": "DOID:0111510",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111510",
        "name": "Marshall syndrome",
        "description": "An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome."
    },
    "synonyms": [
        {
            "id": "DOID:0111510",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111510",
            "name": "MRSHS",
            "description": ""
        },
        {
            "id": "DOID:0111510",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111510",
            "name": "deafness, myopia, cataract, saddle nose-Marshall type",
            "description": ""
        },
        {
            "id": "MONDO:0007949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007949",
            "name": "Marshall syndrome",
            "description": "Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis."
        },
        {
            "id": "MONDO:0007949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007949",
            "name": "Marshall syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007949",
            "name": "MRSHS",
            "description": ""
        },
        {
            "id": "MONDO:0007949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007949",
            "name": "deafness, myopia, cataract, saddle nose-Marshall type",
            "description": ""
        },
        {
            "id": "MIM:154780",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/154780",
            "name": "Marshall syndrome",
            "description": "Marshall syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111510"
    ],
    "unlinked_id_list": []
}