{
    "disease_id": "DOID:0050740",
    "recommended_name": {
        "id": "DOID:0050740",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050740",
        "name": "Qazi Markouizos syndrome",
        "description": "A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation."
    },
    "synonyms": [
        {
            "id": "DOID:0050740",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050740",
            "name": "Qazi-Markouizos syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050740",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050740",
            "name": "Dysharmonic skeletal maturation - muscular fibre disproportion",
            "description": ""
        },
        {
            "id": "MONDO:0010816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010816",
            "name": "Qazi Markouizos syndrome",
            "description": "Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys."
        },
        {
            "id": "MONDO:0010816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010816",
            "name": "Dysharmonic skeletal maturation muscular fibre disproportion",
            "description": ""
        },
        {
            "id": "MONDO:0010816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010816",
            "name": "Dysharmonic skeletal maturation-muscular fiber disproportion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010816",
            "name": "Puertorican infant hypotonia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010816",
            "name": "Qazi-Markouizos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010816",
            "name": "hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion",
            "description": ""
        },
        {
            "id": "MONDO:0010816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010816",
            "name": "PUERTO RICAN infant hypotonia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010816",
            "name": "Dysharmonic skeletal maturation - muscular fibre disproportion",
            "description": ""
        }
    ]
}