{
    "disease_id": "DOID:0060830",
    "recommended_name": {
        "id": "DOID:0060830",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060830",
        "name": "deafness-intellectual disability, Martin-Probst type syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome."
    },
    "synonyms": [
        {
            "id": "DOID:0060830",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060830",
            "name": "Martin-Probst syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060830",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060830",
            "name": "mental retardation, X-linked, syndromic, Martin-Probst type",
            "description": ""
        },
        {
            "id": "MONDO:0010353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010353",
            "name": "deafness-intellectual disability, Martin-Probst type syndrome",
            "description": "Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome."
        },
        {
            "id": "MONDO:0010353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010353",
            "name": "mental retardation, X-linked, syndromic, Martin-Probst type",
            "description": ""
        },
        {
            "id": "MONDO:0010353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010353",
            "name": "Martin-Probst syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010353",
            "name": "MRXSMP",
            "description": ""
        },
        {
            "id": "MONDO:0010353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010353",
            "name": "Martin-Probst deafness-mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010353",
            "name": "mental retardation, X-linked, syndromic, MARTIN-Probst type",
            "description": ""
        },
        {
            "id": "MONDO:0010353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010353",
            "name": "deafness-intellectual disability syndrome, Martin-Probst type",
            "description": ""
        },
        {
            "id": "MONDO:0010353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010353",
            "name": "mental retardation, X-linked, syndromic, MARTIN-Probst type; MRXSMP",
            "description": ""
        },
        {
            "id": "MONDO:0010353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010353",
            "name": "X-linked deafness-intellectual disability syndrome syndrome",
            "description": ""
        }
    ]
}