{
    "disease_id": "DOID:206", 
    "crossref_internal": {
        "protein": [
            "Q93063-1", 
            "Q16394-1"
        ]
    }, 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007585", 
            "resource": "MONDO", 
            "description": "", 
            "name": "exostoses, multiple, type 1", 
            "id": "MONDO:0007585"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007585", 
            "resource": "MONDO", 
            "description": "", 
            "name": "multiple osteochondromas", 
            "id": "MONDO:0007585"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007585", 
            "resource": "MONDO", 
            "description": "", 
            "name": "osteochondromatosis", 
            "id": "MONDO:0007585"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007585", 
            "resource": "MONDO", 
            "description": "", 
            "name": "exostoses, multiple, type I", 
            "id": "MONDO:0007585"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007585", 
            "resource": "MONDO", 
            "description": "", 
            "name": "diaphyseal Aclasis", 
            "id": "MONDO:0007585"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007585", 
            "resource": "MONDO", 
            "description": "", 
            "name": "exostoses, multiple caused by mutation in EXT1", 
            "id": "MONDO:0007585"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007585", 
            "resource": "MONDO", 
            "description": "", 
            "name": "EXT", 
            "id": "MONDO:0007585"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007585", 
            "resource": "MONDO", 
            "description": "", 
            "name": "EXT1 exostoses, multiple", 
            "id": "MONDO:0007585"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007585", 
            "resource": "MONDO", 
            "description": "", 
            "name": "multiple cartilaginous exostoses", 
            "id": "MONDO:0007585"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:206", 
            "resource": "Disease Ontology", 
            "description": "", 
            "name": "Multiple congenital exostosis", 
            "id": "DOID:206"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:206", 
            "resource": "Disease Ontology", 
            "description": "", 
            "name": "Multiple exostosis syndromes", 
            "id": "DOID:206"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:206", 
            "resource": "Disease Ontology", 
            "description": "", 
            "name": "Osteochondromatosis syndrome", 
            "id": "DOID:206"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:206", 
            "resource": "Disease Ontology", 
            "description": "", 
            "name": "hereditary multiple exostoses 1", 
            "id": "DOID:206"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:206", 
            "resource": "Disease Ontology", 
            "description": "", 
            "name": "hereditary multiple exostoses 2", 
            "id": "DOID:206"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:206", 
            "resource": "Disease Ontology", 
            "description": "", 
            "name": "hereditary multiple exostoses 3", 
            "id": "DOID:206"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:206", 
            "resource": "Disease Ontology", 
            "description": "", 
            "name": "multiple ostechondromas", 
            "id": "DOID:206"
        }, 
        {
            "url": "https://www.omim.org/entry/133700", 
            "resource": "MIM", 
            "description": "", 
            "name": "Hereditary multiple exostoses 1", 
            "id": "MIM:133700"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:206", 
        "resource": "Disease Ontology", 
        "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.", 
        "name": "hereditary multiple exostoses", 
        "id": "DOID:206"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/133700", 
            "id": "133700", 
            "database": "MIM"
        }, 
        {
            "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/EXT1/#!details", 
            "id": "EXT1", 
            "database": "Genomics England"
        }
    ]
}