{
    "disease_id": "DOID:0060816",
    "recommended_name": {
        "id": "DOID:0060816",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060816",
        "name": "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0060816",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060816",
            "name": "Graham-Cox syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060816",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060816",
            "name": "MRXS28",
            "description": ""
        },
        {
            "id": "DOID:0060816",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060816",
            "name": "mental retardation, X-linked, syndromic 28",
            "description": ""
        },
        {
            "id": "DOID:0060816",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060816",
            "name": "corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia",
            "description": ""
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome",
            "description": "A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature."
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "Graham-Cox syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "MRXS28",
            "description": ""
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia",
            "description": ""
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "intellectual disability, X-linked, syndromic 28",
            "description": ""
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "mental retardation, X-linked, syndromic 28",
            "description": ""
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia",
            "description": ""
        },
        {
            "id": "MIM:300472",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300472",
            "name": "Intellectual developmental disorder, X-linked, syndromic 28",
            "description": "Intellectual developmental disorder, X-linked, syndromic 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060816"
    ],
    "unlinked_id_list": []
}