{
    "disease_id": "DOID:0080239",
    "recommended_name": {
        "id": "DOID:0080239",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080239",
        "name": "autosomal recessive intellectual developmental disorder 61",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080239",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080239",
            "name": "autosomal recessive mental retardation 61",
            "description": ""
        },
        {
            "id": "DOID:0080239",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080239",
            "name": "Alwadei syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080239",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080239",
            "name": "autosomal recessive intellectual developmental disorder-61",
            "description": ""
        },
        {
            "id": "MONDO:0030915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030915",
            "name": "intellectual disability, autosomal recessive 61",
            "description": "An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13."
        },
        {
            "id": "MONDO:0030915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030915",
            "name": "intellectual disability, autosomal recessive 61",
            "description": ""
        },
        {
            "id": "MONDO:0030915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030915",
            "name": "MRT61",
            "description": ""
        },
        {
            "id": "MONDO:0030915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030915",
            "name": "autosomal recessive mental retardation 61",
            "description": ""
        },
        {
            "id": "MONDO:0030915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030915",
            "name": "mental retardation, autosomal recessive 61",
            "description": ""
        },
        {
            "id": "MIM:617773",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617773",
            "name": "Intellectual developmental disorder, autosomal recessive 61",
            "description": "Intellectual developmental disorder, autosomal recessive 61"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080239"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080239",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080239",
            "categories": []
        },
        {
            "id": "MONDO:0030915",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030915",
            "categories": []
        },
        {
            "id": "MIM:617773",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617773",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BCE9-1",
            "uniprot_ac": "A0A8M2BCE9",
            "uniprot_id": "A0A8M2BCE9_DANRE",
            "refseq_ac": "XP_005165247",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-4 complex accessory subunit RUSC2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rusc2",
                    "type": "recommended"
                },
                {
                    "name": "rusc2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BCE9-1",
            "evidence": [
                {
                    "id": "0080239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80U22-1",
            "uniprot_ac": "Q80U22",
            "uniprot_id": "RUSC2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-4 complex accessory subunit RUSC2",
                    "type": "recommended"
                },
                {
                    "name": "Interacting protein of Rab1",
                    "type": "synonym"
                },
                {
                    "name": "Iporin",
                    "type": "synonym"
                },
                {
                    "name": "RUN and SH3 domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rusc2",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0375",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80U22-1",
            "evidence": [
                {
                    "id": "0080239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N2Y8-1",
            "uniprot_ac": "Q8N2Y8",
            "uniprot_id": "RUSC2_HUMAN",
            "refseq_ac": "NP_001129471",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-4 complex accessory subunit RUSC2",
                    "type": "recommended"
                },
                {
                    "name": "AP-4 complex accessory subunit RUSC2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 complex accessory subunit RUSC2",
                    "type": "synonym"
                },
                {
                    "name": "Interacting protein of Rab1",
                    "type": "synonym"
                },
                {
                    "name": "Iporin",
                    "type": "synonym"
                },
                {
                    "name": "RUN and SH3 domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "interacting protein of Rab1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RUSC2",
                    "type": "recommended"
                },
                {
                    "name": "Iporin",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0375",
                    "type": "synonym"
                },
                {
                    "name": "MRT61",
                    "type": "synonym"
                },
                {
                    "name": "RUSC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N2Y8-1",
            "evidence": [
                {
                    "id": "617773",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617773"
                },
                {
                    "id": "0080239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RCV5-1",
            "uniprot_ac": "M0RCV5",
            "uniprot_id": "M0RCV5_RAT",
            "refseq_ac": "NP_001414134",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-4 complex accessory subunit RUSC2",
                    "type": "recommended"
                },
                {
                    "name": "AP-4 complex accessory subunit RUSC2",
                    "type": "synonym"
                },
                {
                    "name": "Interacting protein of Rab1",
                    "type": "synonym"
                },
                {
                    "name": "RUN and SH3 domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "iporin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rusc2",
                    "type": "recommended"
                },
                {
                    "name": "LOC684259",
                    "type": "synonym"
                },
                {
                    "name": "Rusc2",
                    "type": "synonym"
                }
            ],
            "record_id": "M0RCV5-1",
            "evidence": [
                {
                    "id": "0080239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080239"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080239"
}