{
    "disease_id": "DOID:0112059",
    "recommended_name": {
        "id": "DOID:0112059",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112059",
        "name": "non-syndromic X-linked intellectual disability 72",
        "description": "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0112059",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112059",
            "name": "MRX72",
            "description": ""
        },
        {
            "id": "DOID:0112059",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112059",
            "name": "X-linked mental retardation 72",
            "description": ""
        },
        {
            "id": "MONDO:0010289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010289",
            "name": "intellectual disability, X-linked 72",
            "description": ""
        },
        {
            "id": "MONDO:0010289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010289",
            "name": "intellectual developmental disorder, X-linked 72, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010289",
            "name": "intellectual disability, X-linked 72",
            "description": ""
        },
        {
            "id": "MONDO:0010289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010289",
            "name": "intellectual disability, X-linked type 72",
            "description": ""
        },
        {
            "id": "MONDO:0010289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010289",
            "name": "mental retardation, X-linked type 72",
            "description": ""
        },
        {
            "id": "MONDO:0010289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010289",
            "name": "MRX72",
            "description": ""
        },
        {
            "id": "MONDO:0010289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010289",
            "name": "mental retardation, X-linked 72",
            "description": ""
        },
        {
            "id": "MIM:300271",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300271",
            "name": "Intellectual developmental disorder, X-linked 72",
            "description": "Intellectual developmental disorder, X-linked 72"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112059"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112059",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112059",
            "categories": []
        },
        {
            "id": "MONDO:0010289",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010289",
            "categories": []
        },
        {
            "id": "MIM:300271",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300271",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BHC1-1",
            "uniprot_ac": "Q8BHC1",
            "uniprot_id": "RB39B_MOUSE",
            "refseq_ac": "NP_780331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-39B",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-39B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab39b",
                    "type": "recommended"
                },
                {
                    "name": "6330580M05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rab39b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BHC1-1",
            "evidence": [
                {
                    "id": "0112059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96DA2-1",
            "uniprot_ac": "Q96DA2",
            "uniprot_id": "RB39B_HUMAN",
            "refseq_ac": "NP_741995",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-39B",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "Waisman syndrome",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-39B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAB39B",
                    "type": "recommended"
                },
                {
                    "name": "BGMR",
                    "type": "synonym"
                },
                {
                    "name": "MRX72",
                    "type": "synonym"
                },
                {
                    "name": "RAB39B",
                    "type": "synonym"
                },
                {
                    "name": "WSMN",
                    "type": "synonym"
                },
                {
                    "name": "WSN",
                    "type": "synonym"
                },
                {
                    "name": "XLID72",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96DA2-1",
            "evidence": [
                {
                    "id": "300271",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300271"
                },
                {
                    "id": "0112059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3Q0-1",
            "uniprot_ac": "Q9W3Q0",
            "uniprot_id": "Q9W3Q0_DROME",
            "refseq_ac": "NP_001245568",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG12156-PB",
                    "type": "synonym"
                },
                {
                    "name": "Rab39, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Rab39, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Rab39-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab39",
                    "type": "recommended"
                },
                {
                    "name": "24640395",
                    "type": "synonym"
                },
                {
                    "name": "AAF46271",
                    "type": "synonym"
                },
                {
                    "name": "CG12156",
                    "type": "synonym"
                },
                {
                    "name": "DmRab39",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12156",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12156",
                    "type": "synonym"
                },
                {
                    "name": "Rab39",
                    "type": "synonym"
                },
                {
                    "name": "rab39",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3Q0-1",
            "evidence": [
                {
                    "id": "0112059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112059"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112059"
}