{
    "disease_id": "DOID:0111510", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007949", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007949", 
            "name": "MRSHS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007949", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007949", 
            "name": "Marshall syndrome; MRSHS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007949", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007949", 
            "name": "deafness, myopia, cataract, saddle nose-Marshall type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111510", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111510", 
            "name": "MRSHS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111510", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111510", 
            "name": "deafness, myopia, cataract, saddle nose-Marshall type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111510", 
        "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 COL11A1 on chromosome 1p21.1. Mutations, typically null, in COL11A1 may also cause Stickler syndrome.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111510", 
        "name": "Marshall syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111510#disease-associations", 
            "id": "0111510", 
            "database": "Alliance of Genome Resources"
        }
    ]
}