{
    "disease_id": "DOID:0110120",
    "recommended_name": {
        "id": "DOID:0110120",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110120",
        "name": "Axenfeld-Rieger syndrome type 1",
        "description": "An Axenfeld-Rieger syndrome characterized by abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25."
    },
    "synonyms": [
        {
            "id": "DOID:0110120",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110120",
            "name": "RIEG1",
            "description": ""
        },
        {
            "id": "DOID:0110120",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110120",
            "name": "Rieger syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008386",
            "name": "Axenfeld-Rieger syndrome type 1",
            "description": "A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth."
        },
        {
            "id": "MONDO:0008386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008386",
            "name": "Axenfeld-Rieger syndrome caused by mutation in PITX2",
            "description": ""
        },
        {
            "id": "MONDO:0008386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008386",
            "name": "Axenfeld-Rieger syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008386",
            "name": "PITX2 Axenfeld-Rieger syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008386",
            "name": "RIEG1",
            "description": ""
        },
        {
            "id": "MONDO:0008386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008386",
            "name": "Rieger syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008386",
            "name": "Axenfeld-Rieger syndrome, type 1",
            "description": ""
        },
        {
            "id": "MIM:180500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/180500",
            "name": "Axenfeld-Rieger syndrome 1",
            "description": "Axenfeld-Rieger syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110120"
    ],
    "unlinked_id_list": []
}