{
    "disease_id": "DOID:0080922",
    "recommended_name": {
        "id": "DOID:0080922",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080922",
        "name": "bilateral frontoparietal polymicrogyria",
        "description": "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21."
    },
    "synonyms": [
        {
            "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": "cerebellar ataxia with neuronal migration defect",
            "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": "http://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": "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "G-protein coupled receptor 56; serpentine receptor cyt28; secretin receptor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 56",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 7TM",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 C-terminal fragment",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 CT",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 N-terminal fragment",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 NT",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 extracellular subunit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 seven-transmembrane subunit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 subunit alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 subunit beta",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56(C)",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56(N)",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Serpentine receptor cyt28",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "adhesion G-protein coupled receptor G1 isoform c precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adgrg1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Adgrg1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Cyt28; Gpr56; TM7LN4; TM7XN1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Cyt28",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Gpr56",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0080922",
                    "database": "Alliance of Genome Resources",
                    "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "7-transmembrane protein with no EGF-like N-terminal domains-1; G protein-coupled receptor 56; testicular tissue protein Li 77",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 56",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 7TM",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 C-terminal fragment",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 CT",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 N-terminal fragment",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 NT",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 extracellular subunit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 seven-transmembrane subunit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 subunit alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 subunit beta",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56(C)",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56(N)",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein TM7XN1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "adhesion G-protein coupled receptor G1 isoform b precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADGRG1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ADGRG1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "BFPP; BPPR; CDCBM14B; CDCBM15A; GPR56; TM7LN4; TM7XN1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GPR56",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PRO1083",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TM7LN4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TM7XN1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0080922",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080922"
                },
                {
                    "id": "606854",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606854"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QZM9-1",
            "uniprot_ac": "F1QZM9",
            "uniprot_id": "F1QZM9_DANRE",
            "refseq_ac": "XP_005166446",
            "glycoprotein": "no",
            "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",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Adhesion G-protein coupled receptor G1 isoform X1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "adhesion G-protein coupled receptor G1 isoform X1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "adgrg1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-181f22.4",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "adgrg1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "adgrg1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "fc49b10 GPCR",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "fc49b10; gpr56; wu:fc49b10",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "fc49b10",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "gpr56",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc49b10",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0080922",
                    "database": "Alliance of Genome Resources",
                    "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "G-protein coupled receptor 56",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 7TM",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 C-terminal fragment",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 CT",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 N-terminal fragment",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 NT",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 extracellular subunit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 seven-transmembrane subunit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 subunit alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56 subunit beta",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56(C)",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPR56(N)",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adgrg1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Gpr56",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0080922",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080922"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080922"
}