{
    "disease_id": "DOID:0080982",
    "recommended_name": {
        "id": "DOID:0080982",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080982",
        "name": "X-linked mental retardation-hypotonic facies syndrome-1",
        "description": "A syndromic X-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene. X-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. X-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes."
    },
    "synonyms": [
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "intellectual disability-hypotonic facies syndrome, X-linked, 1",
            "description": "A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features."
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Carpenter-Waziri syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Chudley Lowry Hoar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Chudley-Lowry syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Chudley-Lowry-Hoar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Holmes-Gang syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "MRXHF1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "SFMS",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Smith-Fineman-Myers syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "X-linked intellectual disability-hypotonic face syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "XLMR-hypotonic facies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "intellectual disability-hypotonic facies syndrome, X-linked, 1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "intellectual disability-hypotonic facies syndrome, X-linked, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "mental retardation-hypotonic facies syndrome, X-linked, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Juberg Marsidi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Juberg-Marsidi mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Juberg-Marsidi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Chudley intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Chudley mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Chudley syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "JMS",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "SFM1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Smith Fineman Myers syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "X-linked hypogonadism gynecomastia intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "X-linked hypogonadism gynecomastia mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "intellectual disability Smith Fineman Myers type",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "intellectual disability-hypotonic facies syndrome X-linked, 1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "mental retardation Smith Fineman Myers type",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "mental retardation, X-linked, with growth retardation, deafness, and microgenitalism",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "mental retardation-hypotonic facies syndrome X-linked, 1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "mental retardation-hypotonic facies syndrome, X-linked, 1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "mental retradation, X-linked with Growth delay, deafness, microgenitalism",
            "description": ""
        },
        {
            "id": "MIM:309580",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309580",
            "name": "Intellectual disability-hypotonic facies syndrome, X-linked, 1",
            "description": "Intellectual disability-hypotonic facies syndrome, X-linked, 1"
        }
    ]
}