{
    "disease_id": "DOID:0080802", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009035", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009035", 
            "name": "craniometaphyseal dysplasia, autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009035", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009035", 
            "name": "craniometaphyseal dysplasia, autosomal recessive; CMDR"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009035", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009035", 
            "name": "craniometaphyseal dysplasia, autosomal recessive type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009035", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009035", 
            "name": "CMDR"
        }, 
        {
            "url": "https://www.omim.org/entry/218400", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:218400", 
            "name": "Craniometaphyseal dysplasia, autosomal recessive"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080802", 
        "description": "A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080802", 
        "name": "autosomal recessive craniometaphyseal dysplasia"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/218400", 
            "id": "218400", 
            "database": "MIM"
        }
    ]
}