{
    "disease_id": "DOID:0110122",
    "recommended_name": {
        "id": "DOID:0110122",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110122",
        "name": "Axenfeld-Rieger syndrome type 3",
        "description": "An Axenfeld-Rieger characterized by an anteriorly displaced Schwalbe line, the presence of another ocular anomaly (hypoplasia of iris stroma, corectopia, or iridocorneal adhesions), and nonocular anomalies including maxillary hypoplasia, hypodontia, microdontia, protuberant periumbilical skin, sensorineural hearing loss, and congenital cardiac or renal anomalies syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25."
    },
    "synonyms": [
        {
            "id": "DOID:0110122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110122",
            "name": "RIEG3",
            "description": ""
        },
        {
            "id": "DOID:0110122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110122",
            "name": "Rieger syndrome type 3",
            "description": ""
        },
        {
            "id": "DOID:0110122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110122",
            "name": "Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss",
            "description": ""
        },
        {
            "id": "DOID:0110122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110122",
            "name": "anterior chamber cleavage syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110122",
            "name": "anterior segment mesenchymal dysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0011233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011233",
            "name": "Axenfeld-Rieger syndrome type 3",
            "description": "Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene."
        },
        {
            "id": "MONDO:0011233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011233",
            "name": "Axenfeld-Rieger syndrome caused by mutation in FOXC1",
            "description": ""
        },
        {
            "id": "MONDO:0011233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011233",
            "name": "Axenfeld-Rieger syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011233",
            "name": "FOXC1 Axenfeld-Rieger syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011233",
            "name": "RIEG3",
            "description": ""
        },
        {
            "id": "MONDO:0011233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011233",
            "name": "anterior chamber cleavage syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011233",
            "name": "Axenfeld-Rieger syndrome, type 3",
            "description": ""
        },
        {
            "id": "MIM:602482",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602482",
            "name": "Axenfeld-Rieger syndrome 3",
            "description": "Axenfeld-Rieger syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110122"
    ],
    "unlinked_id_list": []
}