{
    "disease_id": "DOID:0060822",
    "recommended_name": {
        "id": "DOID:0060822",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060822",
        "name": "syndromic X-linked intellectual disability Cabezas type",
        "description": "A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and  bnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in  mutation in the CUL4B gene on chromosome Xq23."
    },
    "synonyms": [
        {
            "id": "DOID:0060822",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060822",
            "name": "MRSS",
            "description": ""
        },
        {
            "id": "DOID:0060822",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060822",
            "name": "MRXS15",
            "description": ""
        },
        {
            "id": "DOID:0060822",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060822",
            "name": "MRXSC",
            "description": ""
        },
        {
            "id": "DOID:0060822",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060822",
            "name": "X-linked mental retardation with short stature",
            "description": ""
        },
        {
            "id": "DOID:0060822",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060822",
            "name": "X-linked mental retardation with short stature, hypogonadism, and abnormal gait",
            "description": ""
        },
        {
            "id": "DOID:0060822",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060822",
            "name": "mental retardation, X-linked, syndromic 15",
            "description": ""
        },
        {
            "id": "DOID:0060822",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060822",
            "name": "Cabezas syndrome; syndromic X-linked mental retardation 15",
            "description": ""
        },
        {
            "id": "DOID:0060822",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060822",
            "name": "mental retardation, X-linked, syndromic 15 (Cabezas type)",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "X-linked intellectual disability, Cabezas type",
            "description": "X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome."
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "mental retardation, X-linked, syndromic, Cabezas type; MRXSC",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "intellectual disability, X-linked, syndromic 15",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "mental retardation, X-linked, with short stature",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "mental retardation, X-linked, syndromic 15 (Cabezas type)",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "X-linked mental retardation with short stature, hypogonadism, and abnormal gait",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "X-linked mental retardation with short stature",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "Cul4B-related X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "mental retardation, X-linked, syndromic, Cabezas type",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "mental retardation, X-linked, syndromic 15",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "MRSS",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "Cabezas syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "MRXSC",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "syndromic X-linked intellectual disability Cabezas type",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "MRXS15",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "Cabezas syndrome; syndromic X-linked mental retardation 15",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "Cabezas type of X-linked syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MIM:300354",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300354",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Cabezas type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Cabezas type"
        }
    ]
}