{
    "disease_id": "DOID:0070711",
    "recommended_name": {
        "id": "DOID:0070711",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070711",
        "name": "Harel-Tora neurodevelopmental syndrome",
        "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking, variably impaired intellectual development with speech delay, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the ATXN7L3 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0980703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980703",
            "name": "Harel-Tora neurodevelopmental syndrome",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070711"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070711",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070711",
            "categories": []
        },
        {
            "id": "MONDO:0980703",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980703",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q14CW9-1",
            "uniprot_ac": "Q14CW9",
            "uniprot_id": "AT7L3_HUMAN",
            "refseq_ac": "NP_001369237",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin-7-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "SAGA-associated factor 11 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-7-like protein 3 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATXN7L3",
                    "type": "recommended"
                },
                {
                    "name": "ATXN7L3",
                    "type": "synonym"
                },
                {
                    "name": "HATONS",
                    "type": "synonym"
                },
                {
                    "name": "SGF11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14CW9-1",
            "evidence": [
                {
                    "id": "621377",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621377"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070711"
}