{
    "disease_id": "DOID:0070753",
    "recommended_name": {
        "id": "DOID:0070753",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070753",
        "name": "neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter",
        "description": "An autosomal dominant intellectual developmental disorder characterized by severely delayed psychomotor development apparent from infancy including delayed and difficulty walking, intellectual disability, and absent speech; decreased cortical white matter often with other brain anomalies; and variable additional features including hip dysplasia, tapering fingers, and seizures that has_material_basis_in heterozygous mutation in the RAB11B gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070753",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070753",
            "name": "NDAGSCW",
            "description": ""
        },
        {
            "id": "MONDO:0060624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060624",
            "name": "neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter",
            "description": ""
        },
        {
            "id": "MONDO:0060624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060624",
            "name": "NDAGSCW",
            "description": ""
        },
        {
            "id": "MIM:617807",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617807",
            "name": "Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter",
            "description": "Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070753"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070753",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070753",
            "categories": []
        },
        {
            "id": "MONDO:0060624",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060624",
            "categories": []
        },
        {
            "id": "MIM:617807",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617807",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q15907-1",
            "uniprot_ac": "Q15907",
            "uniprot_id": "RB11B_HUMAN",
            "refseq_ac": "NP_004209",
            "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-11B",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein YPT3",
                    "type": "synonym"
                },
                {
                    "name": "RAB11B, member of RAS oncogene family",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-11B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAB11B",
                    "type": "recommended"
                },
                {
                    "name": "H-YPT3",
                    "type": "synonym"
                },
                {
                    "name": "NDAGSCW",
                    "type": "synonym"
                },
                {
                    "name": "RAB11B",
                    "type": "synonym"
                },
                {
                    "name": "YPT3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15907-1",
            "evidence": [
                {
                    "id": "617807",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617807"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070753"
}