{
    "disease_id": "DOID:0111826",
    "recommended_name": {
        "id": "DOID:0111826",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111826",
        "name": "Abruzzo-Erickson syndrome",
        "description": "A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111826",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111826",
            "name": "CHARGE-like syndrome, X-linked",
            "description": ""
        },
        {
            "id": "DOID:0111826",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111826",
            "name": "cleft palate-coloboma-deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010554",
            "name": "Abruzzo-Erickson syndrome",
            "description": "Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis."
        },
        {
            "id": "MONDO:0010554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010554",
            "name": "ABERS",
            "description": ""
        },
        {
            "id": "MONDO:0010554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010554",
            "name": "Abruzzo-Erickson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010554",
            "name": "CHARGE-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010554",
            "name": "cleft palate-coloboma-deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010554",
            "name": "CHARGE like syndrome X-linked",
            "description": ""
        },
        {
            "id": "MIM:302905",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/302905",
            "name": "Abruzzo-Erickson syndrome",
            "description": "Abruzzo-Erickson syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111826"
    ],
    "unlinked_id_list": []
}