{
    "disease_id": "DOID:0070710",
    "recommended_name": {
        "id": "DOID:0070710",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070710",
        "name": "neurodevelopmental disorder with speech delay and behavioral abnormalities",
        "description": "An autosomal dominant intellectual developmental disorder characterized by delayed motor, speech, and/or cognitive development beginning in infancy or early childhood and behavioral abnormalities that has_material_basis_in heterozygous mutation in the UBR5 gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070710",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070710",
            "name": "NEDSBH",
            "description": ""
        },
        {
            "id": "MONDO:0980700",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980700",
            "name": "neurodevelopmental disorder with speech delay and behavioral abnormalities",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070710"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070710",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070710",
            "categories": []
        },
        {
            "id": "MONDO:0980700",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O95071-1",
            "uniprot_ac": "O95071",
            "uniprot_id": "UBR5_HUMAN",
            "refseq_ac": "NP_001269802",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase UBR5",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "E3 identified by differential display",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase UBR5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase, HECT domain-containing 1",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase UBR5",
                    "type": "synonym"
                },
                {
                    "name": "Hyperplastic discs protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Progestin-induced protein",
                    "type": "synonym"
                },
                {
                    "name": "hHYD",
                    "type": "synonym"
                },
                {
                    "name": "hyperplastic discs protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "progestin-induced protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UBR5",
                    "type": "recommended"
                },
                {
                    "name": "DD5",
                    "type": "synonym"
                },
                {
                    "name": "EDD1",
                    "type": "synonym"
                },
                {
                    "name": "EDD",
                    "type": "synonym"
                },
                {
                    "name": "HYD",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0896",
                    "type": "synonym"
                },
                {
                    "name": "NEDSBH",
                    "type": "synonym"
                },
                {
                    "name": "UBR5",
                    "type": "synonym"
                }
            ],
            "record_id": "O95071-1",
            "evidence": [
                {
                    "id": "621372",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621372"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070710"
}