{
    "disease_id": "DOID:0070032",
    "recommended_name": {
        "id": "DOID:0070032",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070032",
        "name": "autosomal dominant intellectual developmental disorder 2",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24."
    },
    "synonyms": [
        {
            "id": "DOID:0070032",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070032",
            "name": "MRD2",
            "description": ""
        },
        {
            "id": "DOID:0070032",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070032",
            "name": "autosomal dominant mental retardation 2",
            "description": ""
        },
        {
            "id": "DOID:0070032",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070032",
            "name": "autosomal dominant non-syndromic intellectual disability 2",
            "description": ""
        },
        {
            "id": "MONDO:0013581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013581",
            "name": "intellectual disability, autosomal dominant 2",
            "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene."
        },
        {
            "id": "MONDO:0013581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013581",
            "name": "DOCK8 autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013581",
            "name": "MRD2",
            "description": ""
        },
        {
            "id": "MONDO:0013581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013581",
            "name": "autosomal dominant intellectual disability 2",
            "description": ""
        },
        {
            "id": "MONDO:0013581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013581",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in DOCK8",
            "description": ""
        },
        {
            "id": "MONDO:0013581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013581",
            "name": "intellectual disability, autosomal dominant 2",
            "description": ""
        },
        {
            "id": "MONDO:0013581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013581",
            "name": "intellectual disability, autosomal dominant type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013581",
            "name": "mental retardation, autosomal dominant type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013581",
            "name": "mental retardation, autosomal dominant 2",
            "description": ""
        },
        {
            "id": "MIM:614113",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614113",
            "name": "Intellectual developmental disorder, autosomal dominant 2",
            "description": "Intellectual developmental disorder, autosomal dominant 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070032"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070032",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070032",
            "categories": []
        },
        {
            "id": "MONDO:0013581",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013581",
            "categories": []
        },
        {
            "id": "MIM:614113",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614113",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8NF50-1",
            "uniprot_ac": "Q8NF50",
            "uniprot_id": "DOCK8_HUMAN",
            "refseq_ac": "NP_001177387",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dedicator of cytokinesis protein 8",
                    "type": "recommended"
                },
                {
                    "name": "1200017A24Rik",
                    "type": "synonym"
                },
                {
                    "name": "dedicator of cytokinesis protein 8 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dedicator of cytokinesis protein 8",
                    "type": "synonym"
                },
                {
                    "name": "epididymis luminal protein 205",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DOCK8",
                    "type": "recommended"
                },
                {
                    "name": "DOCK8",
                    "type": "synonym"
                },
                {
                    "name": "HEL-205",
                    "type": "synonym"
                },
                {
                    "name": "HIES2",
                    "type": "synonym"
                },
                {
                    "name": "MRD2",
                    "type": "synonym"
                },
                {
                    "name": "ZIR8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NF50-1",
            "evidence": [
                {
                    "id": "614113",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614113"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070032"
}