{
    "disease_id": "DOID:0110120", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008386", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008386", 
            "name": "Axenfeld-Rieger syndrome, type 1; RIEG1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008386", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008386", 
            "name": "Axenfeld-Rieger syndrome, type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008386", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008386", 
            "name": "Rgs"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008386", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008386", 
            "name": "Rieger syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008386", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008386", 
            "name": "Rieger syndrome, type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008386", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008386", 
            "name": "Rieg"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008386", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008386", 
            "name": "RIEG1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008386", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008386", 
            "name": "Axenfeld-Rieger syndrome caused by mutation in PITX2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008386", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008386", 
            "name": "PITX2 Axenfeld-Rieger syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110120", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110120", 
            "name": "RIEG1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110120", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110120", 
            "name": "Rieger syndrome type 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110120", 
        "description": "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110120", 
        "name": "Axenfeld-Rieger syndrome type 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110120#disease-associations", 
            "id": "0110120", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
