{
    "disease_id": "DOID:0070657",
    "recommended_name": {
        "id": "DOID:0070657",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070657",
        "name": "congenital variant of Rett syndrome",
        "description": "A pervasive developmental disorder characterized by microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation that has_material_basis_in heterozygous mutation in the FOXG1 gene on chromosome 14q13, encoding forkhead box protein G1."
    },
    "synonyms": [
        {
            "id": "DOID:0070657",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070657",
            "name": "FOXG1 syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070657",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070657",
            "name": "Rett syndrome, congenital variant",
            "description": ""
        },
        {
            "id": "MONDO:0100040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "name": "FOXG1 disorder",
            "description": "A monogenic disease that has material basis in mutation in the FOXG1 gene."
        },
        {
            "id": "MONDO:0100040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "name": "FOXG1 disorder",
            "description": ""
        },
        {
            "id": "MONDO:0100040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "name": "FOXG1 inherited genetic disease",
            "description": ""
        },
        {
            "id": "MONDO:0100040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "name": "FOXG1 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0100040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "name": "FOXG1 syndrome due to intragenic alteration",
            "description": ""
        },
        {
            "id": "MONDO:0100040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "name": "FOXG1-related epileptic-dyskinetic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0100040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "name": "Rett syndrome, congenital variant",
            "description": ""
        },
        {
            "id": "MONDO:0100040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "name": "inherited genetic disease caused by mutation in FOXG1",
            "description": ""
        },
        {
            "id": "MIM:613454",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613454",
            "name": "Rett syndrome congenital variant",
            "description": "Rett syndrome congenital variant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070657"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070657",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070657",
            "categories": []
        },
        {
            "id": "MONDO:0100040",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "categories": []
        },
        {
            "id": "MIM:613454",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613454",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q60987-1",
            "uniprot_ac": "Q60987",
            "uniprot_id": "FOXG1_MOUSE",
            "refseq_ac": "NP_001153584",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein G1",
                    "type": "recommended"
                },
                {
                    "name": "BF-1",
                    "type": "synonym"
                },
                {
                    "name": "BF1",
                    "type": "synonym"
                },
                {
                    "name": "Brain factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related protein FKHL1",
                    "type": "synonym"
                },
                {
                    "name": "FoxG1",
                    "type": "synonym"
                },
                {
                    "name": "HNF-3/forkhead homolog, brain factor 1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein G1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related protein FKHL1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxg1",
                    "type": "recommended"
                },
                {
                    "name": "2900064B05Rik",
                    "type": "synonym"
                },
                {
                    "name": "BF-1",
                    "type": "synonym"
                },
                {
                    "name": "Bf1",
                    "type": "synonym"
                },
                {
                    "name": "Fkhl1",
                    "type": "synonym"
                },
                {
                    "name": "Foxg1b",
                    "type": "synonym"
                },
                {
                    "name": "Foxg1",
                    "type": "synonym"
                },
                {
                    "name": "Hfh9",
                    "type": "synonym"
                },
                {
                    "name": "Hfhbf1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60987-1",
            "evidence": [
                {
                    "id": "0070657",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070657"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55316-1",
            "uniprot_ac": "P55316",
            "uniprot_id": "FOXG1_HUMAN",
            "refseq_ac": "NP_005240",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein G1",
                    "type": "recommended"
                },
                {
                    "name": "BF-1",
                    "type": "synonym"
                },
                {
                    "name": "BF-2",
                    "type": "synonym"
                },
                {
                    "name": "BF1",
                    "type": "synonym"
                },
                {
                    "name": "BF2",
                    "type": "synonym"
                },
                {
                    "name": "Brain factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Brain factor 2",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead box protein G1A",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead box protein G1B",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead box protein G1C",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related protein FKHL1",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related protein FKHL2",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related protein FKHL3",
                    "type": "synonym"
                },
                {
                    "name": "HFK1",
                    "type": "synonym"
                },
                {
                    "name": "HFK2",
                    "type": "synonym"
                },
                {
                    "name": "HFK3",
                    "type": "synonym"
                },
                {
                    "name": "brain factor 1",
                    "type": "synonym"
                },
                {
                    "name": "brain factor 2",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein G1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-like 1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-like 2",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-like 3",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-like 4",
                    "type": "synonym"
                },
                {
                    "name": "hBF-2",
                    "type": "synonym"
                },
                {
                    "name": "oncogene QIN",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOXG1",
                    "type": "recommended"
                },
                {
                    "name": "BF1",
                    "type": "synonym"
                },
                {
                    "name": "BF2",
                    "type": "synonym"
                },
                {
                    "name": "FHKL3",
                    "type": "synonym"
                },
                {
                    "name": "FKH2",
                    "type": "synonym"
                },
                {
                    "name": "FKHL1",
                    "type": "synonym"
                },
                {
                    "name": "FKHL2",
                    "type": "synonym"
                },
                {
                    "name": "FKHL3",
                    "type": "synonym"
                },
                {
                    "name": "FKHL4",
                    "type": "synonym"
                },
                {
                    "name": "FOXG1A",
                    "type": "synonym"
                },
                {
                    "name": "FOXG1B",
                    "type": "synonym"
                },
                {
                    "name": "FOXG1C",
                    "type": "synonym"
                },
                {
                    "name": "FOXG1",
                    "type": "synonym"
                },
                {
                    "name": "HBF-1",
                    "type": "synonym"
                },
                {
                    "name": "HBF-2",
                    "type": "synonym"
                },
                {
                    "name": "HBF-3",
                    "type": "synonym"
                },
                {
                    "name": "HBF-G2",
                    "type": "synonym"
                },
                {
                    "name": "HBF2",
                    "type": "synonym"
                },
                {
                    "name": "HFK1",
                    "type": "synonym"
                },
                {
                    "name": "HFK2",
                    "type": "synonym"
                },
                {
                    "name": "HFK3",
                    "type": "synonym"
                },
                {
                    "name": "KHL2",
                    "type": "synonym"
                },
                {
                    "name": "QIN",
                    "type": "synonym"
                }
            ],
            "record_id": "P55316-1",
            "evidence": [
                {
                    "id": "613454",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613454"
                },
                {
                    "id": "0070657",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070657"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00939-1",
            "uniprot_ac": "Q00939",
            "uniprot_id": "FOXG1_RAT",
            "refseq_ac": "NP_036692",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein G1",
                    "type": "recommended"
                },
                {
                    "name": "BF-1",
                    "type": "synonym"
                },
                {
                    "name": "BF1",
                    "type": "synonym"
                },
                {
                    "name": "Brain factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related protein FKHL1",
                    "type": "synonym"
                },
                {
                    "name": "FoxG1",
                    "type": "synonym"
                },
                {
                    "name": "brain factor 1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein G1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-like transcription factor BF-1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related protein FKHL1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxg1",
                    "type": "recommended"
                },
                {
                    "name": "BF1A",
                    "type": "synonym"
                },
                {
                    "name": "Fkhl1",
                    "type": "synonym"
                },
                {
                    "name": "Foxg1b",
                    "type": "synonym"
                },
                {
                    "name": "Foxg1",
                    "type": "synonym"
                },
                {
                    "name": "RATBF1A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00939-1",
            "evidence": [
                {
                    "id": "0070657",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070657"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14600-1",
            "uniprot_ac": "P14600",
            "uniprot_id": "NK1R_RAT",
            "refseq_ac": "NP_036799",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Substance-P receptor",
                    "type": "recommended"
                },
                {
                    "name": "NK-1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "NK-1R",
                    "type": "synonym"
                },
                {
                    "name": "SPR",
                    "type": "synonym"
                },
                {
                    "name": "Tachykinin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "neurokinin 1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "substance p receptor",
                    "type": "synonym"
                },
                {
                    "name": "substance-P receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tacr1",
                    "type": "recommended"
                },
                {
                    "name": "Tac1r",
                    "type": "synonym"
                },
                {
                    "name": "Tacr1",
                    "type": "synonym"
                }
            ],
            "record_id": "P14600-1",
            "evidence": [
                {
                    "id": "0070657",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070657"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32031-1",
            "uniprot_ac": "P32031",
            "uniprot_id": "SLP2_DROME",
            "refseq_ac": "NP_476834",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fork head domain transcription factor slp2",
                    "type": "recommended"
                },
                {
                    "name": "CG2939-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sloppy paired locus protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Sloppy-paired",
                    "type": "synonym"
                },
                {
                    "name": "sloppy paired 2",
                    "type": "synonym"
                },
                {
                    "name": "sloppy paired",
                    "type": "synonym"
                },
                {
                    "name": "sloppy-paired 2",
                    "type": "synonym"
                },
                {
                    "name": "slp2-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slp2",
                    "type": "recommended"
                },
                {
                    "name": "CG2939",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2939",
                    "type": "synonym"
                },
                {
                    "name": "Dmslp2",
                    "type": "synonym"
                },
                {
                    "name": "FD7",
                    "type": "synonym"
                },
                {
                    "name": "FoxG",
                    "type": "synonym"
                },
                {
                    "name": "SLP",
                    "type": "synonym"
                },
                {
                    "name": "Sloppy-paired",
                    "type": "synonym"
                },
                {
                    "name": "Slp2",
                    "type": "synonym"
                },
                {
                    "name": "Slp",
                    "type": "synonym"
                },
                {
                    "name": "slp2",
                    "type": "synonym"
                },
                {
                    "name": "slp",
                    "type": "synonym"
                }
            ],
            "record_id": "P32031-1",
            "evidence": [
                {
                    "id": "0070657",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070657"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070657"
}