{
    "disease_id": "DOID:0060806",
    "recommended_name": {
        "id": "DOID:0060806",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060806",
        "name": "syndromic X-linked intellectual disability Hedera type",
        "description": "A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "DOID:0060806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060806",
            "name": "mental retardation, X-linked, syndromic, Hedera type",
            "description": ""
        },
        {
            "id": "DOID:0060806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060806",
            "name": "MRXE",
            "description": ""
        },
        {
            "id": "DOID:0060806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060806",
            "name": "MRXSH",
            "description": ""
        },
        {
            "id": "DOID:0060806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060806",
            "name": "X-linked mental retardation with epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0010319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "name": "syndromic X-linked intellectual disability Hedera type",
            "description": "X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported."
        },
        {
            "id": "MONDO:0010319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "name": "MRXE",
            "description": ""
        },
        {
            "id": "MONDO:0010319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "name": "MRXSH",
            "description": ""
        },
        {
            "id": "MONDO:0010319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "name": "X-linked intellectual disability with epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0010319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "name": "intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "name": "intellectual disability, X-linked, syndromic, Hedera type",
            "description": ""
        },
        {
            "id": "MONDO:0010319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "name": "mental retardation, X-linked, syndromic, Hedera type",
            "description": ""
        },
        {
            "id": "MONDO:0010319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "name": "mental retardation, X-linked, with epilepsy",
            "description": ""
        },
        {
            "id": "MIM:300423",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300423",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Hedera type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Hedera type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060806"
    ],
    "unlinked_id_list": []
}