{
    "disease_id": "DOID:0060801",
    "recommended_name": {
        "id": "DOID:0060801",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060801",
        "name": "MEHMO syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0060801",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060801",
            "name": "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060801",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060801",
            "name": "MRXS20",
            "description": ""
        },
        {
            "id": "DOID:0060801",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060801",
            "name": "MRXS25",
            "description": ""
        },
        {
            "id": "DOID:0060801",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060801",
            "name": "syndromic X-linked mental retardation 20",
            "description": ""
        },
        {
            "id": "DOID:0060801",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060801",
            "name": "syndromic X-linked mental retardation 25",
            "description": ""
        },
        {
            "id": "DOID:0060801",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060801",
            "name": "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity",
            "description": ""
        },
        {
            "id": "MONDO:0010258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010258",
            "name": "MEHMO syndrome",
            "description": "MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction."
        },
        {
            "id": "MONDO:0010258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010258",
            "name": "MRXS25",
            "description": ""
        },
        {
            "id": "MONDO:0010258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010258",
            "name": "mental retardation, X-linked, syndromic 25",
            "description": ""
        },
        {
            "id": "MONDO:0010258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010258",
            "name": "syndromic X-linked mental retardation 20",
            "description": ""
        },
        {
            "id": "MONDO:0010258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010258",
            "name": "MRXS20",
            "description": ""
        },
        {
            "id": "MONDO:0010258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010258",
            "name": "mental retardation, X-linked, syndromic 20",
            "description": ""
        },
        {
            "id": "MONDO:0010258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010258",
            "name": "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; MEHMO",
            "description": ""
        },
        {
            "id": "MONDO:0010258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010258",
            "name": "X-linked MEHMO syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010258",
            "name": "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity",
            "description": ""
        },
        {
            "id": "MONDO:0010258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010258",
            "name": "MEHMO syndrome; MEHMO",
            "description": ""
        },
        {
            "id": "MONDO:0010258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010258",
            "name": "MEHMO",
            "description": ""
        },
        {
            "id": "MONDO:0010258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010258",
            "name": "intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity",
            "description": ""
        },
        {
            "id": "MONDO:0010258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010258",
            "name": "syndromic X-linked mental retardation 25",
            "description": ""
        },
        {
            "id": "MONDO:0010258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010258",
            "name": "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome",
            "description": ""
        },
        {
            "id": "MIM:300148",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300148",
            "name": "MEHMO syndrome",
            "description": "MEHMO syndrome"
        }
    ]
}