{
    "disease_id": "DOID:0060248",
    "recommended_name": {
        "id": "DOID:0060248",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060248",
        "name": "Simpson-Golabi-Behmel syndrome type 1",
        "description": "A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26."
    },
    "synonyms": [
        {
            "id": "DOID:0060248",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060248",
            "name": "DGSX Golabi-Rosen syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060248",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060248",
            "name": "Golabi-Rosen syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060248",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060248",
            "name": "SGB syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060248",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060248",
            "name": "Sara Angers syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060248",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060248",
            "name": "Simpson dysmorphia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060248",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060248",
            "name": "X-linked dysplasia gigantism syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060248",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060248",
            "name": "bulldog syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020602",
            "name": "Simpson-Golabi-Behmel syndrome type 1",
            "description": "Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene."
        },
        {
            "id": "MONDO:0020602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020602",
            "name": "GPC3 Simpson-Golabi-Behmel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020602",
            "name": "SGBS1",
            "description": ""
        },
        {
            "id": "MONDO:0020602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020602",
            "name": "Simpson dysmorphia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020602",
            "name": "Simpson-Golabi-Behmel syndrome caused by mutation in GPC3",
            "description": ""
        },
        {
            "id": "MONDO:0020602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020602",
            "name": "Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0020602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020602",
            "name": "bulldog syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020602",
            "name": "Simpson-Golabi-Behmel syndrome, type 1",
            "description": ""
        },
        {
            "id": "MIM:312870",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/312870",
            "name": "Simpson-Golabi-Behmel syndrome 1",
            "description": "Simpson-Golabi-Behmel syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060248"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060248",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060248",
            "categories": []
        },
        {
            "id": "MONDO:0020602",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020602",
            "categories": []
        },
        {
            "id": "MIM:312870",
            "database": "MIM",
            "url": "https://www.omim.org/entry/312870",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6V9Y8-1",
            "uniprot_ac": "Q6V9Y8",
            "uniprot_id": "GPC3_DANRE",
            "refseq_ac": "NP_001292547",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glypican-3",
                    "type": "recommended"
                },
                {
                    "name": "glypican-3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gpc3",
                    "type": "recommended"
                },
                {
                    "name": "gpc3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6V9Y8-1",
            "evidence": [
                {
                    "id": "0060248",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060248"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CFZ4-1",
            "uniprot_ac": "Q8CFZ4",
            "uniprot_id": "GPC3_MOUSE",
            "refseq_ac": "NP_057906",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glypican-3",
                    "type": "recommended"
                },
                {
                    "name": "glypican-3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpc3",
                    "type": "recommended"
                },
                {
                    "name": "Gpc3",
                    "type": "synonym"
                },
                {
                    "name": "OCI-5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CFZ4-1",
            "evidence": [
                {
                    "id": "0060248",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060248"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51654-1",
            "uniprot_ac": "P51654",
            "uniprot_id": "GPC3_HUMAN",
            "refseq_ac": "NP_001158089",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glypican-3",
                    "type": "recommended"
                },
                {
                    "name": "GTR2-2",
                    "type": "synonym"
                },
                {
                    "name": "Intestinal protein OCI-5",
                    "type": "synonym"
                },
                {
                    "name": "MXR7",
                    "type": "synonym"
                },
                {
                    "name": "glypican proteoglycan 3",
                    "type": "synonym"
                },
                {
                    "name": "glypican-3 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "heparan sulphate proteoglycan",
                    "type": "synonym"
                },
                {
                    "name": "intestinal protein OCI-5",
                    "type": "synonym"
                },
                {
                    "name": "secreted glypican-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPC3",
                    "type": "recommended"
                },
                {
                    "name": "DGSX",
                    "type": "synonym"
                },
                {
                    "name": "GPC3",
                    "type": "synonym"
                },
                {
                    "name": "GTR2-2",
                    "type": "synonym"
                },
                {
                    "name": "MXR7",
                    "type": "synonym"
                },
                {
                    "name": "OCI-5",
                    "type": "synonym"
                },
                {
                    "name": "OCI5",
                    "type": "synonym"
                },
                {
                    "name": "SDYS",
                    "type": "synonym"
                },
                {
                    "name": "SGBS1",
                    "type": "synonym"
                },
                {
                    "name": "SGBS",
                    "type": "synonym"
                },
                {
                    "name": "SGB",
                    "type": "synonym"
                }
            ],
            "record_id": "P51654-1",
            "evidence": [
                {
                    "id": "312870",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/312870"
                },
                {
                    "id": "0060248",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060248"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13265-1",
            "uniprot_ac": "P13265",
            "uniprot_id": "GPC3_RAT",
            "refseq_ac": "NP_036906",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glypican-3",
                    "type": "recommended"
                },
                {
                    "name": "Intestinal protein OCI-5",
                    "type": "synonym"
                },
                {
                    "name": "defective in Simpson-Golabi-Behmel overgrowth syndrome",
                    "type": "synonym"
                },
                {
                    "name": "glypican-3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "intestinal protein OCI-5",
                    "type": "synonym"
                },
                {
                    "name": "proteoglycan GPC3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpc3",
                    "type": "recommended"
                },
                {
                    "name": "Gpc3",
                    "type": "synonym"
                },
                {
                    "name": "OCI-5",
                    "type": "synonym"
                }
            ],
            "record_id": "P13265-1",
            "evidence": [
                {
                    "id": "0060248",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060248"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24114-1",
            "uniprot_ac": "Q24114",
            "uniprot_id": "DALY_DROME",
            "refseq_ac": "NP_001246685",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Division abnormally delayed protein",
                    "type": "recommended"
                },
                {
                    "name": "CG4974-PB",
                    "type": "synonym"
                },
                {
                    "name": "Dally protein",
                    "type": "synonym"
                },
                {
                    "name": "dally-PB",
                    "type": "synonym"
                },
                {
                    "name": "division abnormally delayed, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "division abnormally delayed",
                    "type": "synonym"
                },
                {
                    "name": "genitalia missing",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) SG18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dally",
                    "type": "recommended"
                },
                {
                    "name": "CG4974",
                    "type": "synonym"
                },
                {
                    "name": "CT15952",
                    "type": "synonym"
                },
                {
                    "name": "Dally",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4974",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-1.63",
                    "type": "synonym"
                },
                {
                    "name": "clone 1.63",
                    "type": "synonym"
                },
                {
                    "name": "dally",
                    "type": "synonym"
                },
                {
                    "name": "gem",
                    "type": "synonym"
                },
                {
                    "name": "l(3)06464",
                    "type": "synonym"
                },
                {
                    "name": "l(3)SG18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24114-1",
            "evidence": [
                {
                    "id": "0060248",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060248"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060248"
}