{
    "disease_id": "DOID:0070417",
    "recommended_name": {
        "id": "DOID:0070417",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070417",
        "name": "neurodevelopmental disorder with speech impairment and dysmorphic facies",
        "description": "A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11."
    },
    "synonyms": [
        {
            "id": "DOID:0070417",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070417",
            "name": "NEDSID",
            "description": ""
        },
        {
            "id": "MONDO:0033630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033630",
            "name": "neurodevelopmental disorder with speech impairment and dysmorphic facies",
            "description": ""
        },
        {
            "id": "MONDO:0033630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033630",
            "name": "NEDSID",
            "description": ""
        },
        {
            "id": "MIM:619056",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619056",
            "name": "Neurodevelopmental disorder with speech impairment and dysmorphic facies",
            "description": "Neurodevelopmental disorder with speech impairment and dysmorphic facies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070417"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070417",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070417",
            "categories": []
        },
        {
            "id": "MONDO:0033630",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033630",
            "categories": []
        },
        {
            "id": "MIM:619056",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619056",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "A0A8M9PER0",
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            "refseq_ac": "XP_021329647",
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                {
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                    "taxid": 7955,
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                },
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                    "name": "Nsccn1",
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                }
            ]
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                }
            ],
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    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070417"
}