{
    "disease_id": "DOID:0080312",
    "recommended_name": {
        "id": "DOID:0080312",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080312",
        "name": "neurodevelopmental disorder with midbrain and hindbrain malformations",
        "description": "A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080312",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080312",
            "name": "NEDMHM",
            "description": ""
        },
        {
            "id": "MONDO:0056797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0056797",
            "name": "neurodevelopmental disorder with midbrain and hindbrain malformations",
            "description": ""
        },
        {
            "id": "MONDO:0056797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0056797",
            "name": "NEDMHM",
            "description": ""
        },
        {
            "id": "MONDO:0056797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0056797",
            "name": "neurodevelopmental disorder with midbrain and hindbrain malformations",
            "description": ""
        },
        {
            "id": "MIM:617523",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617523",
            "name": "Neurodevelopmental disorder with midbrain and hindbrain malformations",
            "description": "Neurodevelopmental disorder with midbrain and hindbrain malformations"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080312"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080312",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080312",
            "categories": []
        },
        {
            "id": "MONDO:0056797",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0056797",
            "categories": []
        },
        {
            "id": "MIM:617523",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617523",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PUS2-1",
            "uniprot_ac": "A0A8M9PUS2",
            "uniprot_id": "A0A8M9PUS2_DANRE",
            "refseq_ac": "XP_021328624",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "arhgef2b",
                    "type": "recommended"
                },
                {
                    "name": "arhgef2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PUS2-1",
            "evidence": [
                {
                    "id": "0080312",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080312"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB13A992-1",
            "uniprot_ac": "A0AB13A992",
            "uniprot_id": "A0AB13A992_DANRE",
            "refseq_ac": "NP_001410313",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 2",
                    "type": "recommended"
                },
                {
                    "name": "Guanine nucleotide exchange factor H1",
                    "type": "synonym"
                },
                {
                    "name": "Rho guanine nucleotide exchange factor (GEF) 1a",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor (GEF) 1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 1a",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "arhgef2a",
                    "type": "recommended"
                },
                {
                    "name": "arhgef1a",
                    "type": "synonym"
                },
                {
                    "name": "arhgef1",
                    "type": "synonym"
                },
                {
                    "name": "arhgef2a",
                    "type": "synonym"
                },
                {
                    "name": "cb473",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-240h12.3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158261",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A992-1",
            "evidence": [
                {
                    "id": "0080312",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080312"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60875-1",
            "uniprot_ac": "Q60875",
            "uniprot_id": "ARHG2_MOUSE",
            "refseq_ac": "NP_001185840",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 2",
                    "type": "recommended"
                },
                {
                    "name": "GEF-H1",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide exchange factor H1",
                    "type": "synonym"
                },
                {
                    "name": "LBC'S first cousin",
                    "type": "synonym"
                },
                {
                    "name": "Lymphoid blast crisis-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Oncogene LFC",
                    "type": "synonym"
                },
                {
                    "name": "Rhobin",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide exchange factor H1",
                    "type": "synonym"
                },
                {
                    "name": "lymphoid blast crisis-like 1",
                    "type": "synonym"
                },
                {
                    "name": "oncogene LFC",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 2",
                    "type": "synonym"
                },
                {
                    "name": "rho/rac guanine nucleotide exchange factor (GEF) 2",
                    "type": "synonym"
                },
                {
                    "name": "rhobin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arhgef2",
                    "type": "recommended"
                },
                {
                    "name": "Arhgef2",
                    "type": "synonym"
                },
                {
                    "name": "GEF-H1",
                    "type": "synonym"
                },
                {
                    "name": "GEFH1",
                    "type": "synonym"
                },
                {
                    "name": "GEF",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0651",
                    "type": "synonym"
                },
                {
                    "name": "LFP40",
                    "type": "synonym"
                },
                {
                    "name": "Lbcl1",
                    "type": "synonym"
                },
                {
                    "name": "Lfc",
                    "type": "synonym"
                },
                {
                    "name": "P40",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0651",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60875-1",
            "evidence": [
                {
                    "id": "0080312",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080312"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92974-1",
            "uniprot_ac": "Q92974",
            "uniprot_id": "ARHG2_HUMAN",
            "refseq_ac": "NP_001155855",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 2",
                    "type": "recommended"
                },
                {
                    "name": "GEF-H1",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide exchange factor H1",
                    "type": "synonym"
                },
                {
                    "name": "Microtubule-regulated Rho-GEF",
                    "type": "synonym"
                },
                {
                    "name": "Proliferating cell nucleolar antigen p40",
                    "type": "synonym"
                },
                {
                    "name": "Rho/Rac guanine nucleotide exchange factor (GEF) 2",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide exchange factor H1",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-regulated Rho-GEF",
                    "type": "synonym"
                },
                {
                    "name": "proliferating cell nucleolar antigen p40",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARHGEF2",
                    "type": "recommended"
                },
                {
                    "name": "ARHGEF2",
                    "type": "synonym"
                },
                {
                    "name": "GEF-H1",
                    "type": "synonym"
                },
                {
                    "name": "GEFH1",
                    "type": "synonym"
                },
                {
                    "name": "GEF",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0651",
                    "type": "synonym"
                },
                {
                    "name": "LFP40",
                    "type": "synonym"
                },
                {
                    "name": "Lfc",
                    "type": "synonym"
                },
                {
                    "name": "NEDMHM",
                    "type": "synonym"
                },
                {
                    "name": "P40",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92974-1",
            "evidence": [
                {
                    "id": "617523",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617523"
                },
                {
                    "id": "0080312",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080312"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FVC2-1",
            "uniprot_ac": "Q5FVC2",
            "uniprot_id": "ARHG2_RAT",
            "refseq_ac": "NP_001012079",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 2",
                    "type": "recommended"
                },
                {
                    "name": "GEF-H1",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide exchange factor H1",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide exchange factor H1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 2",
                    "type": "synonym"
                },
                {
                    "name": "rho/rac guanine nucleotide exchange factor (GEF) 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arhgef2",
                    "type": "recommended"
                },
                {
                    "name": "Arhgef2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FVC2-1",
            "evidence": [
                {
                    "id": "0080312",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080312"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PBE1-1",
            "uniprot_ac": "M9PBE1",
            "uniprot_id": "M9PBE1_DROME",
            "refseq_ac": "NP_001260588",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10188-PC",
                    "type": "synonym"
                },
                {
                    "name": "Cysts, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "cyst-PC",
                    "type": "synonym"
                },
                {
                    "name": "cysts, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cyst",
                    "type": "recommended"
                },
                {
                    "name": "CG10188",
                    "type": "synonym"
                },
                {
                    "name": "Cysts",
                    "type": "synonym"
                },
                {
                    "name": "Cyst",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10188",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10188",
                    "type": "synonym"
                },
                {
                    "name": "Dp114/Cysts",
                    "type": "synonym"
                },
                {
                    "name": "Dp114RhoGEF",
                    "type": "synonym"
                },
                {
                    "name": "cyst",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PBE1-1",
            "evidence": [
                {
                    "id": "0080312",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080312"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080312"
}