{
    "disease_id": "DOID:0070715",
    "recommended_name": {
        "id": "DOID:0070715",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070715",
        "name": "Ramond-Elliott neurodevelopmental syndrome",
        "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking or inability to walk, impaired intellectual development that is usually severe, and poor or absent speech that has_material_basis_in heterozygous mutation in the TRA2B gene on chromosome 3q27."
    },
    "synonyms": [
        {
            "id": "MONDO:0980751",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980751",
            "name": "Ramond-Elliott neurodevelopmental syndrome",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070715"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070715",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070715",
            "categories": []
        },
        {
            "id": "MONDO:0980751",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980751",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P62995-1",
            "uniprot_ac": "P62995",
            "uniprot_id": "TRA2B_HUMAN",
            "refseq_ac": "NP_001230808",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transformer-2 protein homolog beta",
                    "type": "recommended"
                },
                {
                    "name": "Splicing factor, arginine/serine-rich 10",
                    "type": "synonym"
                },
                {
                    "name": "TRA-2 beta",
                    "type": "synonym"
                },
                {
                    "name": "TRA2-beta",
                    "type": "synonym"
                },
                {
                    "name": "Transformer-2 protein homolog B",
                    "type": "synonym"
                },
                {
                    "name": "hTRA2-beta",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 156",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)",
                    "type": "synonym"
                },
                {
                    "name": "transformer-2 protein homolog B",
                    "type": "synonym"
                },
                {
                    "name": "transformer-2 protein homolog beta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transformer-2 protein homolog beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRA2B",
                    "type": "recommended"
                },
                {
                    "name": "Htra2-beta",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R156",
                    "type": "synonym"
                },
                {
                    "name": "RAMELN",
                    "type": "synonym"
                },
                {
                    "name": "SFRS10",
                    "type": "synonym"
                },
                {
                    "name": "SRFS10",
                    "type": "synonym"
                },
                {
                    "name": "TRA2-BETA",
                    "type": "synonym"
                },
                {
                    "name": "TRA2B",
                    "type": "synonym"
                },
                {
                    "name": "TRAN2B",
                    "type": "synonym"
                }
            ],
            "record_id": "P62995-1",
            "evidence": [
                {
                    "id": "621421",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621421"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070715"
}