{
    "disease_id": "DOID:0050781",
    "recommended_name": {
        "id": "DOID:0050781",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050781",
        "name": "Ogden syndrome",
        "description": "A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0050781",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050781",
            "name": "N-alpha-acetyltransferase",
            "description": ""
        },
        {
            "id": "DOID:0050781",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050781",
            "name": "N-terminal acetyltransferase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0050781",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050781",
            "name": "OGDNS",
            "description": ""
        },
        {
            "id": "DOID:0050781",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050781",
            "name": "X-linked Malformation and Infantile Lethality Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "Ogden syndrome",
            "description": "Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat."
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "N-terminal acetyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "OGDNS",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "Ogden syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "Ogden syndrome, X-linked recessive, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "premature ageing appearance-developmental delay-cardiac arrhythmia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "premature aging appearance-developmental delay-cardiac arrhythmia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "Acetyl-CoA:arylamine n-acetyltransferase",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "N acetyltransferase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "N acetyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "NAT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "arylamine n-acetyltransferase 1",
            "description": ""
        },
        {
            "id": "MIM:300855",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300855",
            "name": "N-terminal acetyltransferase deficiency",
            "description": "N-terminal acetyltransferase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050781"
    ],
    "unlinked_id_list": []
}