{
    "disease_id": "DOID:0090131",
    "recommended_name": {
        "id": "DOID:0090131",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090131",
        "name": "complex cortical dysplasia with other brain malformations",
        "description": "A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations."
    },
    "synonyms": [
        {
            "id": "DOID:0090131",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090131",
            "name": "CDCBM",
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        },
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            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
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            "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene."
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
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            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "TUBB3 complex cortical dysplasia with other brain malformations",
            "description": ""
        },
        {
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            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "complex cortical dysplasia with other brain malformations caused by mutation in TUBB3",
            "description": ""
        },
        {
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            "resource": "MONDO",
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            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
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            "name": "cortical dysplasia, Complex, with Other brain malformations type 1",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "cortical dysplasia, complex, with other brain malformations 1",
            "description": ""
        },
        {
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            "url": "https://www.omim.org/entry/614039",
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            "description": "Cortical dysplasia, complex, with other brain malformations 1"
        }
    ],
    "children": [
        {
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            "label": "complex cortical dysplasia with other brain malformations 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061141",
            "label": "complex cortical dysplasia with other brain malformations 12",
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            "children": []
        },
        {
            "id": "DOID:0061142",
            "label": "complex cortical dysplasia with other brain malformations 11",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061143",
            "label": "complex cortical dysplasia with other brain malformations 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061144",
            "label": "complex cortical dysplasia with other brain malformations 13",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080922",
            "label": "complex cortical dysplasia with other brain malformations 14A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080924",
            "label": "complex cortical dysplasia with other brain malformations 14B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081266",
            "label": "complex cortical dysplasia with other brain malformations 15",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090132",
            "label": "complex cortical dysplasia with other brain malformations 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090133",
            "label": "complex cortical dysplasia with other brain malformations 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090134",
            "label": "complex cortical dysplasia with other brain malformations 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090135",
            "label": "complex cortical dysplasia with other brain malformations 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090136",
            "label": "complex cortical dysplasia with other brain malformations 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090137",
            "label": "complex cortical dysplasia with other brain malformations 1",
            "link_status": true,
            "children": []
        },
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            "children": []
        }
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            "protein_names": [
                {
                    "name": "Forkhead box protein P1",
                    "type": "recommended"
                },
                {
                    "name": "MFH",
                    "type": "synonym"
                },
                {
                    "name": "Mac-1-regulated forkhead",
                    "type": "synonym"
                },
                {
                    "name": "fork head-related protein like B",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein P1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "glutamine-rich factor 1",
                    "type": "synonym"
                },
                {
                    "name": "mac-1-regulated forkhead",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOXP1",
                    "type": "recommended"
                },
                {
                    "name": "12CC4",
                    "type": "synonym"
                },
                {
                    "name": "FOXP1",
                    "type": "synonym"
                },
                {
                    "name": "HSPC215",
                    "type": "synonym"
                },
                {
                    "name": "MFH",
                    "type": "synonym"
                },
                {
                    "name": "QRF1",
                    "type": "synonym"
                },
                {
                    "name": "hFKH1B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H334-1",
            "evidence": [
                {
                    "id": "0090131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60741-1",
            "uniprot_ac": "O60741",
            "uniprot_id": "HCN1_HUMAN",
            "refseq_ac": "NP_066550",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1",
                    "type": "recommended"
                },
                {
                    "name": "BCNG-1",
                    "type": "synonym"
                },
                {
                    "name": "Brain cyclic nucleotide-gated channel 1",
                    "type": "synonym"
                },
                {
                    "name": "MUT-D534H potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1",
                    "type": "synonym"
                },
                {
                    "name": "MUT-L400P potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1",
                    "type": "synonym"
                },
                {
                    "name": "MUT-M243delinsTL potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1",
                    "type": "synonym"
                },
                {
                    "name": "brain cyclic nucleotide-gated channel 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HCN1",
                    "type": "recommended"
                },
                {
                    "name": "BCNG-1",
                    "type": "synonym"
                },
                {
                    "name": "BCNG1",
                    "type": "synonym"
                },
                {
                    "name": "DEE24",
                    "type": "synonym"
                },
                {
                    "name": "EIEE24",
                    "type": "synonym"
                },
                {
                    "name": "GEFSP10",
                    "type": "synonym"
                },
                {
                    "name": "HAC-2",
                    "type": "synonym"
                },
                {
                    "name": "HCN1",
                    "type": "synonym"
                }
            ],
            "record_id": "O60741-1",
            "evidence": [
                {
                    "id": "0090131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090131"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090131"
}