{
    "disease_id": "DOID:0080984",
    "recommended_name": {
        "id": "DOID:0080984",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080984",
        "name": "X-linked intellectual developmental disorder 109",
        "description": "A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion."
    },
    "synonyms": [
        {
            "id": "DOID:0080984",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080984",
            "name": "Fragile XE syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080984",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080984",
            "name": "fragile site on chromosome Xq28",
            "description": ""
        },
        {
            "id": "MONDO:0010659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010659",
            "name": "FRAXE intellectual disability",
            "description": "A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR."
        },
        {
            "id": "MONDO:0010659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010659",
            "name": "FRAXE intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010659",
            "name": "intellectual developmental disorder, X-linked 109, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010659",
            "name": "intellectual disability associated with fragile site FRAXE",
            "description": ""
        },
        {
            "id": "MONDO:0010659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010659",
            "name": "FRAXE mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010659",
            "name": "FRAXE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010659",
            "name": "X-linked intellectual disability associated with fragile site FRAXE",
            "description": ""
        },
        {
            "id": "MONDO:0010659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010659",
            "name": "X-linked mental retardation associated with fragile site FRAXE",
            "description": ""
        },
        {
            "id": "MONDO:0010659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010659",
            "name": "fragile XE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010659",
            "name": "fragile site, folic acid type",
            "description": ""
        },
        {
            "id": "MONDO:0010659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010659",
            "name": "mental retardation, X-linked, associated with fragile site FRAXE",
            "description": ""
        },
        {
            "id": "MIM:309548",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309548",
            "name": "Intellectual developmental disorder, X-linked 109",
            "description": "Intellectual developmental disorder, X-linked 109"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080984"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080984",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080984",
            "categories": []
        },
        {
            "id": "MONDO:0010659",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010659",
            "categories": []
        },
        {
            "id": "MIM:309548",
            "database": "MIM",
            "url": "https://www.omim.org/entry/309548",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5H1-1",
            "uniprot_ac": "A0ACD6B5H1",
            "uniprot_id": "A0ACD6B5H1_DANRE",
            "refseq_ac": "XP_002664429",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "AF4/FMR2 family member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "aff2",
                    "type": "recommended"
                },
                {
                    "name": "aff2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5H1-1",
            "evidence": [
                {
                    "id": "0080984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55112-1",
            "uniprot_ac": "O55112",
            "uniprot_id": "AFF2_MOUSE",
            "refseq_ac": "NP_032058",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "AF4/FMR2 family member 2",
                    "type": "recommended"
                },
                {
                    "name": "AF4/FMR2 family member 2",
                    "type": "synonym"
                },
                {
                    "name": "FMR2P",
                    "type": "synonym"
                },
                {
                    "name": "Ox19 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein FMR-2",
                    "type": "synonym"
                },
                {
                    "name": "Protein Ox19",
                    "type": "synonym"
                },
                {
                    "name": "protein FMR-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aff2",
                    "type": "recommended"
                },
                {
                    "name": "Aff2",
                    "type": "synonym"
                },
                {
                    "name": "FMR2P",
                    "type": "synonym"
                },
                {
                    "name": "Fmr2",
                    "type": "synonym"
                },
                {
                    "name": "Ox19",
                    "type": "synonym"
                },
                {
                    "name": "Oxh",
                    "type": "synonym"
                }
            ],
            "record_id": "O55112-1",
            "evidence": [
                {
                    "id": "0080984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51816-1",
            "uniprot_ac": "P51816",
            "uniprot_id": "AFF2_HUMAN",
            "refseq_ac": "NP_001162593",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AF4/FMR2 family member 2",
                    "type": "recommended"
                },
                {
                    "name": "AF4/FMR2 family member 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "AF4/FMR2 family member 2",
                    "type": "synonym"
                },
                {
                    "name": "FMR2P",
                    "type": "synonym"
                },
                {
                    "name": "Protein FMR-2",
                    "type": "synonym"
                },
                {
                    "name": "Protein Ox19",
                    "type": "synonym"
                },
                {
                    "name": "protein FMR-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AFF2",
                    "type": "recommended"
                },
                {
                    "name": "AFF2",
                    "type": "synonym"
                },
                {
                    "name": "FMR2P",
                    "type": "synonym"
                },
                {
                    "name": "FMR2",
                    "type": "synonym"
                },
                {
                    "name": "FRAXE",
                    "type": "synonym"
                },
                {
                    "name": "MRX2",
                    "type": "synonym"
                },
                {
                    "name": "OX19",
                    "type": "synonym"
                },
                {
                    "name": "XLID109",
                    "type": "synonym"
                }
            ],
            "record_id": "P51816-1",
            "evidence": [
                {
                    "id": "309548",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/309548"
                },
                {
                    "id": "0080984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LJN0-1",
            "uniprot_ac": "A0ABK0LJN0",
            "uniprot_id": "A0ABK0LJN0_RAT",
            "refseq_ac": "XP_017457913",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "AF4/FMR2 family member 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ALF transcription elongation factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aff2",
                    "type": "recommended"
                },
                {
                    "name": "Aff2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565592",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LJN0-1",
            "evidence": [
                {
                    "id": "0080984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52844-1",
            "uniprot_ac": "P52844",
            "uniprot_id": "ST1E1_RAT",
            "refseq_ac": "NP_037015",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfotransferase 1E1",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.4",
                    "type": "synonym"
                },
                {
                    "name": "EST-1",
                    "type": "synonym"
                },
                {
                    "name": "EST-6",
                    "type": "synonym"
                },
                {
                    "name": "Estrogen sulfotransferase, isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Estrogen sulfotransferase, isoform 6",
                    "type": "synonym"
                },
                {
                    "name": "Estrone sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "ST1E1",
                    "type": "synonym"
                },
                {
                    "name": "Sulfotransferase, estrogen-preferring",
                    "type": "synonym"
                },
                {
                    "name": "estrogen sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "estrone sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase 1E1",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase family 1E, estrogen-preferring, member 1",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase, estrogen-preferring",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sult1e1",
                    "type": "recommended"
                },
                {
                    "name": "EST-1",
                    "type": "synonym"
                },
                {
                    "name": "EST-2",
                    "type": "synonym"
                },
                {
                    "name": "EST-3",
                    "type": "synonym"
                },
                {
                    "name": "EST-6",
                    "type": "synonym"
                },
                {
                    "name": "ESTSUL",
                    "type": "synonym"
                },
                {
                    "name": "ST1E1",
                    "type": "synonym"
                },
                {
                    "name": "Ste1",
                    "type": "synonym"
                },
                {
                    "name": "Ste2",
                    "type": "synonym"
                },
                {
                    "name": "Ste",
                    "type": "synonym"
                },
                {
                    "name": "Sult1e1",
                    "type": "synonym"
                },
                {
                    "name": "rEST-6",
                    "type": "synonym"
                },
                {
                    "name": "ste2",
                    "type": "synonym"
                }
            ],
            "record_id": "P52844-1",
            "evidence": [
                {
                    "id": "0080984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQI9-1",
            "uniprot_ac": "Q9VQI9",
            "uniprot_id": "AFFL_DROME",
            "refseq_ac": "NP_001137772",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "AF4/FMR2 family member lilli",
                    "type": "recommended"
                },
                {
                    "name": "CG8817-PD",
                    "type": "synonym"
                },
                {
                    "name": "Protein lilliputian",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of Raf at 2A",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of sina 2-1",
                    "type": "synonym"
                },
                {
                    "name": "liliputian",
                    "type": "synonym"
                },
                {
                    "name": "lilli-PD",
                    "type": "synonym"
                },
                {
                    "name": "lilliputian, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "lilliputian",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of GMR-sina 2-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lilli",
                    "type": "recommended"
                },
                {
                    "name": "154454_at",
                    "type": "synonym"
                },
                {
                    "name": "189Y",
                    "type": "synonym"
                },
                {
                    "name": "AFF4",
                    "type": "synonym"
                },
                {
                    "name": "BEST:GH09955",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GM02019",
                    "type": "synonym"
                },
                {
                    "name": "CG8817",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8817",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8817",
                    "type": "synonym"
                },
                {
                    "name": "Lilli",
                    "type": "synonym"
                },
                {
                    "name": "S(ls)4",
                    "type": "synonym"
                },
                {
                    "name": "SS2-1",
                    "type": "synonym"
                },
                {
                    "name": "SY2-1",
                    "type": "synonym"
                },
                {
                    "name": "Su(Raf)2A",
                    "type": "synonym"
                },
                {
                    "name": "Su(Raf)2a",
                    "type": "synonym"
                },
                {
                    "name": "dAFF4",
                    "type": "synonym"
                },
                {
                    "name": "dAFF",
                    "type": "synonym"
                },
                {
                    "name": "l(2)00632",
                    "type": "synonym"
                },
                {
                    "name": "l(2)23Cc",
                    "type": "synonym"
                },
                {
                    "name": "l(2)K00632",
                    "type": "synonym"
                },
                {
                    "name": "l(2)K07920",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k07920",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k16124",
                    "type": "synonym"
                },
                {
                    "name": "lilli",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQI9-1",
            "evidence": [
                {
                    "id": "0080984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080984"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080984"
}