{
    "disease_id": "DOID:0080922",
    "recommended_name": {
        "id": "DOID:0080922",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080922",
        "name": "complex cortical dysplasia with other brain malformations 14A",
        "description": "A complex cortical dysplasia with other brain malformations that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21."
    },
    "synonyms": [
        {
            "id": "DOID:0080922",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080922",
            "name": "bilateral frontoparietal polymicrogyria",
            "description": ""
        },
        {
            "id": "DOID:0080922",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080922",
            "name": "CDCBM14A",
            "description": ""
        },
        {
            "id": "MONDO:0011738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011738",
            "name": "bilateral frontoparietal polymicrogyria",
            "description": "A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus."
        },
        {
            "id": "MONDO:0011738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011738",
            "name": "bilateral frontoparietal polymicrogyria",
            "description": ""
        },
        {
            "id": "MONDO:0011738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011738",
            "name": "BFPP",
            "description": ""
        },
        {
            "id": "MONDO:0011738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011738",
            "name": "polymicrogyria, bilateral frontoparietal",
            "description": ""
        },
        {
            "id": "MIM:606854",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606854",
            "name": "Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal)",
            "description": "Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal)"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080922"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080922",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080922",
            "categories": []
        },
        {
            "id": "MONDO:0011738",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011738",
            "categories": []
        },
        {
            "id": "MIM:606854",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606854",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q59I63-1",
            "uniprot_ac": "Q59I63",
            "uniprot_id": "AGRG1_DANRE",
            "refseq_ac": "NP_001018317",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adhesion G protein-coupled receptor G1",
                    "type": "recommended"
                },
                {
                    "name": "ADGRG1 C-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "ADGRG1 CT",
                    "type": "synonym"
                },
                {
                    "name": "ADGRG1 N-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "ADGRG1 NT",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor 56",
                    "type": "synonym"
                },
                {
                    "name": "adhesion G-protein coupled receptor G1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "adgrg1",
                    "type": "recommended"
                },
                {
                    "name": "adgrg1",
                    "type": "synonym"
                },
                {
                    "name": "fc49b10",
                    "type": "synonym"
                },
                {
                    "name": "gpr56",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-181f22.4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc49b10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q59I63-1",
            "evidence": [
                {
                    "id": "0080922",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080922"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K209-1",
            "uniprot_ac": "Q8K209",
            "uniprot_id": "AGRG1_MOUSE",
            "refseq_ac": "NP_001185823",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adhesion G protein-coupled receptor G1",
                    "type": "recommended"
                },
                {
                    "name": "ADGRG1 C-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "ADGRG1 N-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "ADGRG1 NT",
                    "type": "synonym"
                },
                {
                    "name": "ADGRG1-CT",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor 56",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 56",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 7TM",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 C-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 CT",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 N-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 NT",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 extracellular subunit",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 seven-transmembrane subunit",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "GPR56(C)",
                    "type": "synonym"
                },
                {
                    "name": "GPR56(N)",
                    "type": "synonym"
                },
                {
                    "name": "Serpentine receptor cyt28",
                    "type": "synonym"
                },
                {
                    "name": "adhesion G-protein coupled receptor G1 isoform c precursor",
                    "type": "synonym"
                },
                {
                    "name": "secretin receptor",
                    "type": "synonym"
                },
                {
                    "name": "serpentine receptor cyt28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adgrg1",
                    "type": "recommended"
                },
                {
                    "name": "Adgrg1",
                    "type": "synonym"
                },
                {
                    "name": "Cyt28",
                    "type": "synonym"
                },
                {
                    "name": "Gpr56",
                    "type": "synonym"
                },
                {
                    "name": "TM7LN4",
                    "type": "synonym"
                },
                {
                    "name": "TM7XN1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K209-1",
            "evidence": [
                {
                    "id": "0080922",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080922"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y653-1",
            "uniprot_ac": "Q9Y653",
            "uniprot_id": "AGRG1_HUMAN",
            "refseq_ac": "NP_001139242",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adhesion G protein-coupled receptor G1",
                    "type": "recommended"
                },
                {
                    "name": "7-transmembrane protein with no EGF-like N-terminal domains-1",
                    "type": "synonym"
                },
                {
                    "name": "ADGRG1 C-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "ADGRG1 CT",
                    "type": "synonym"
                },
                {
                    "name": "ADGRG1 N-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "ADGRG1 NT",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor 56",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 7TM",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 C-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 CT",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 N-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 NT",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 extracellular subunit",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 seven-transmembrane subunit",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "GPR56(C)",
                    "type": "synonym"
                },
                {
                    "name": "GPR56(N)",
                    "type": "synonym"
                },
                {
                    "name": "adhesion G-protein coupled receptor G1 isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 77",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADGRG1",
                    "type": "recommended"
                },
                {
                    "name": "ADGRG1",
                    "type": "synonym"
                },
                {
                    "name": "BFPP",
                    "type": "synonym"
                },
                {
                    "name": "BPPR",
                    "type": "synonym"
                },
                {
                    "name": "CDCBM14B",
                    "type": "synonym"
                },
                {
                    "name": "CDCBM15A",
                    "type": "synonym"
                },
                {
                    "name": "GPR56",
                    "type": "synonym"
                },
                {
                    "name": "PRO1083",
                    "type": "synonym"
                },
                {
                    "name": "TM7LN4",
                    "type": "synonym"
                },
                {
                    "name": "TM7XN1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y653-1",
            "evidence": [
                {
                    "id": "606854",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606854"
                },
                {
                    "id": "0080922",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080922"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K3V3-1",
            "uniprot_ac": "Q8K3V3",
            "uniprot_id": "AGRG1_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": "Adhesion G protein-coupled receptor G1",
                    "type": "recommended"
                },
                {
                    "name": "ADGRG1 C-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "ADGRG1 CT",
                    "type": "synonym"
                },
                {
                    "name": "ADGRG1 N-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "ADGRG1 NT",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor 56",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 7TM",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 C-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 CT",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 N-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 NT",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 extracellular subunit",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 seven-transmembrane subunit",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "GPR56(C)",
                    "type": "synonym"
                },
                {
                    "name": "GPR56(N)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adgrg1",
                    "type": "recommended"
                },
                {
                    "name": "Gpr56",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K3V3-1",
            "evidence": [
                {
                    "id": "0080922",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080922"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080922"
}