{
    "disease_id": "DOID:0081211",
    "recommended_name": {
        "id": "DOID:0081211",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081211",
        "name": "autosomal recessive intellectual developmental disorder 47",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43."
    },
    "synonyms": [
        {
            "id": "MONDO:0014524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014524",
            "name": "intellectual disability, autosomal recessive 47",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene."
        },
        {
            "id": "MONDO:0014524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014524",
            "name": "FMN2 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014524",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2",
            "description": ""
        },
        {
            "id": "MONDO:0014524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014524",
            "name": "intellectual developmental disorder, autosomal recessive 47",
            "description": ""
        },
        {
            "id": "MONDO:0014524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014524",
            "name": "intellectual disability, autosomal recessive 47",
            "description": ""
        },
        {
            "id": "MONDO:0014524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014524",
            "name": "intellectual disability, autosomal recessive type 47",
            "description": ""
        },
        {
            "id": "MONDO:0014524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014524",
            "name": "mental retardation, autosomal recessive type 47",
            "description": ""
        },
        {
            "id": "MONDO:0014524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014524",
            "name": "MRT47",
            "description": ""
        },
        {
            "id": "MONDO:0014524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014524",
            "name": "mental retardation, autosomal recessive 47",
            "description": ""
        },
        {
            "id": "MIM:616193",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616193",
            "name": "Intellectual developmental disorder, autosomal recessive 47",
            "description": "Intellectual developmental disorder, autosomal recessive 47"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081211"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081211",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081211",
            "categories": []
        },
        {
            "id": "MONDO:0014524",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014524",
            "categories": []
        },
        {
            "id": "MIM:616193",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616193",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B718-1",
            "uniprot_ac": "A0ACD6B718",
            "uniprot_id": "A0ACD6B718_DANRE",
            "refseq_ac": "XP_001333061",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein fmn2a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein fmn2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fmn2a",
                    "type": "recommended"
                },
                {
                    "name": "fmn2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B718-1",
            "evidence": [
                {
                    "id": "0081211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081211"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3B4X8-1",
            "uniprot_ac": "A0A8M3B4X8",
            "uniprot_id": "A0A8M3B4X8_DANRE",
            "refseq_ac": "XP_009305265",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Formin-2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "formin-2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fmn2b",
                    "type": "recommended"
                },
                {
                    "name": "fmn2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B4X8-1",
            "evidence": [
                {
                    "id": "0081211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081211"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JL04-1",
            "uniprot_ac": "Q9JL04",
            "uniprot_id": "FMN2_MOUSE",
            "refseq_ac": "NP_062318",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Formin-2",
                    "type": "recommended"
                },
                {
                    "name": "formin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fmn2",
                    "type": "recommended"
                },
                {
                    "name": "Fmn2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JL04-1",
            "evidence": [
                {
                    "id": "0081211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081211"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NZ56-1",
            "uniprot_ac": "Q9NZ56",
            "uniprot_id": "FMN2_HUMAN",
            "refseq_ac": "NP_001292353",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Formin-2",
                    "type": "recommended"
                },
                {
                    "name": "formin-2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FMN2",
                    "type": "recommended"
                },
                {
                    "name": "FMN2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NZ56-1",
            "evidence": [
                {
                    "id": "616193",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616193"
                },
                {
                    "id": "0081211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081211"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AUE2-1",
            "uniprot_ac": "A0A8I6AUE2",
            "uniprot_id": "A0A8I6AUE2_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Formin-2",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Fmn2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AUE2-1",
            "evidence": [
                {
                    "id": "0081211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081211"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24120-1",
            "uniprot_ac": "Q24120",
            "uniprot_id": "CAPU_DROME",
            "refseq_ac": "NP_476966",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein cappuccino",
                    "type": "recommended"
                },
                {
                    "name": "CG3399-PA",
                    "type": "synonym"
                },
                {
                    "name": "cappuccino, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "cappuccino",
                    "type": "synonym"
                },
                {
                    "name": "cappucino",
                    "type": "synonym"
                },
                {
                    "name": "capu-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "capu",
                    "type": "recommended"
                },
                {
                    "name": "CG15420",
                    "type": "synonym"
                },
                {
                    "name": "CG3399",
                    "type": "synonym"
                },
                {
                    "name": "Capu",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3399",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3399",
                    "type": "synonym"
                },
                {
                    "name": "capp",
                    "type": "synonym"
                },
                {
                    "name": "capu",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24120-1",
            "evidence": [
                {
                    "id": "0081211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081211"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081211"
}