{
    "disease_id": "DOID:0111529",
    "recommended_name": {
        "id": "DOID:0111529",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111529",
        "name": "familial multiple nevi flammei",
        "description": "A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover."
    },
    "synonyms": [
        {
            "id": "DOID:0111529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111529",
            "name": "CMC",
            "description": ""
        },
        {
            "id": "DOID:0111529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111529",
            "name": "congenital capillary malformations",
            "description": ""
        },
        {
            "id": "DOID:0111529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111529",
            "name": "familial multiple port-wine stains",
            "description": ""
        },
        {
            "id": "MONDO:0008094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008094",
            "name": "familial multiple nevi flammei",
            "description": "A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color."
        },
        {
            "id": "MONDO:0008094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008094",
            "name": "Nevus flammeus",
            "description": ""
        },
        {
            "id": "MONDO:0008094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008094",
            "name": "Salmon patch Nevus",
            "description": ""
        },
        {
            "id": "MONDO:0008094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008094",
            "name": "capillary malformations, congenital, 1, somatic, mosaic",
            "description": ""
        },
        {
            "id": "MONDO:0008094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008094",
            "name": "familial multiple port-wine stains",
            "description": ""
        },
        {
            "id": "MONDO:0008094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008094",
            "name": "port wine Nevus",
            "description": ""
        },
        {
            "id": "MONDO:0008094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008094",
            "name": "port wine birthmark",
            "description": ""
        },
        {
            "id": "MONDO:0008094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008094",
            "name": "port wine stain",
            "description": ""
        },
        {
            "id": "MONDO:0008094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008094",
            "name": "port wine stain of skin",
            "description": ""
        },
        {
            "id": "MONDO:0008094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008094",
            "name": "port wine stain of the skin",
            "description": ""
        },
        {
            "id": "MONDO:0008094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008094",
            "name": "port wine type hemangioma",
            "description": ""
        },
        {
            "id": "MONDO:0008094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008094",
            "name": "port-wine stain of skin",
            "description": ""
        },
        {
            "id": "MONDO:0008094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008094",
            "name": "CMC",
            "description": ""
        },
        {
            "id": "MONDO:0008094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008094",
            "name": "capillary malformations, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0008094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008094",
            "name": "port-wine stain familial multiple",
            "description": ""
        },
        {
            "id": "MIM:163000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/163000",
            "name": "Capillary malformations, congenital",
            "description": "Capillary malformations, congenital"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111529"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111529",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111529",
            "categories": []
        },
        {
            "id": "MONDO:0008094",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008094",
            "categories": []
        },
        {
            "id": "MIM:163000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/163000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8JLJ7-1",
            "uniprot_ac": "B8JLJ7",
            "uniprot_id": "B8JLJ7_DANRE",
            "refseq_ac": "NP_001138271",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Galpha q",
                    "type": "synonym"
                },
                {
                    "name": "gnaqa",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(q) subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gnaq",
                    "type": "recommended"
                },
                {
                    "name": "gnaq",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-270f14.2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111529",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111529"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21279-1",
            "uniprot_ac": "P21279",
            "uniprot_id": "GNAQ_MOUSE",
            "refseq_ac": "NP_032165",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(q) subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
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                },
                {
                    "name": "Guanine nucleotide-binding protein alpha-q",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(q) subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnaq",
                    "type": "recommended"
                },
                {
                    "name": "1110005L02Rik",
                    "type": "synonym"
                },
                {
                    "name": "6230401I02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dsk10",
                    "type": "synonym"
                },
                {
                    "name": "Dsk1",
                    "type": "synonym"
                },
                {
                    "name": "Galphaq",
                    "type": "synonym"
                },
                {
                    "name": "Gnaq",
                    "type": "synonym"
                },
                {
                    "name": "GqI",
                    "type": "synonym"
                },
                {
                    "name": "Gq",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111529",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111529"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50148-1",
            "uniprot_ac": "P50148",
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            "refseq_ac": "NP_002063",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(q) subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide-binding protein alpha-q",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), q polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(q) subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein alpha-q",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GNAQ",
                    "type": "recommended"
                },
                {
                    "name": "CMAL",
                    "type": "synonym"
                },
                {
                    "name": "G-ALPHA-q",
                    "type": "synonym"
                },
                {
                    "name": "GAQ",
                    "type": "synonym"
                },
                {
                    "name": "GNAQ",
                    "type": "synonym"
                },
                {
                    "name": "SWS",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "163000",
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                    "url": "https://www.omim.org/entry/163000"
                },
                {
                    "id": "0111529",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111529"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08539-1",
            "uniprot_ac": "P08539",
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            "refseq_ac": "NP_011868",
            "glycoprotein": "no",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein alpha-1 subunit",
                    "type": "recommended"
                },
                {
                    "name": "GP1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit alpha",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "GPA1",
                    "type": "recommended"
                },
                {
                    "name": "CDC70",
                    "type": "synonym"
                },
                {
                    "name": "DAC1",
                    "type": "synonym"
                },
                {
                    "name": "GPA1",
                    "type": "synonym"
                },
                {
                    "name": "SCG1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111529",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111529"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10823-1",
            "uniprot_ac": "P10823",
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            "refseq_ac": "NP_010937",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
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                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein alpha-2 subunit",
                    "type": "recommended"
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                    "name": "GP2-alpha",
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                {
                    "name": "guanine nucleotide-binding protein subunit alpha",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "GPA2",
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                {
                    "name": "GPA2",
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                },
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                    "name": "SSP101",
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                {
                    "id": "0111529",
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            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Guanine nucleotide-binding protein G(q) subunit alpha",
                    "type": "recommended"
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                    "name": "3.6.5.-",
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                    "name": "Guanine nucleotide-binding protein alpha-q",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), q polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein alpha q subunit",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein, alpha q polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide regulatory protein G alpha q",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(q) subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein alpha-q",
                    "type": "synonym"
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                    "name": "heterotrimeric guanine nucleotide-binding protein alpha q subunit",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Gnaq",
                    "type": "recommended"
                },
                {
                    "name": "ENSRNOG00000063937",
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                    "name": "Galphaq",
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                    "name": "Gnaq",
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                    "id": "0111529",
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            "uniprot_canonical_ac": "P23625-1",
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            "refseq_ac": "NP_725191",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "G protein alpha q subunit",
                    "type": "recommended"
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                    "name": "CG17759-PA",
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                    "name": "G protein 49B",
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                },
                {
                    "name": "G protein alpha q subunit",
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                },
                {
                    "name": "G protein alpha subunit q, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "G protein alpha49B",
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                {
                    "name": "G-protein alpha subunit",
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                    "name": "Guanine nucleotide-binding protein G(q) subunit alpha",
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                {
                    "name": "Guanine nucleotide-binding protein alpha-q",
                    "type": "synonym"
                },
                {
                    "name": "dGQalpha",
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                    "name": "DGalpha[[q]]",
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                    "name": "DGalphaq",
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                {
                    "name": "DGqalpha",
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                {
                    "name": "DGq",
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                },
                {
                    "name": "Dgq",
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                {
                    "name": "DmGalpha[[q]]",
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                {
                    "name": "Dromel_CG17759_galpha49b_mORF",
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                {
                    "name": "G alpha 49B",
                    "type": "synonym"
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                {
                    "name": "G?q",
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                    "name": "GNAQ/11/14",
                    "type": "synonym"
                },
                {
                    "name": "G[[a]]q",
                    "type": "synonym"
                },
                {
                    "name": "G[[alphaq]]",
                    "type": "synonym"
                },
                {
                    "name": "G[[q]]alpha",
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                },
                {
                    "name": "G[[q]]",
                    "type": "synonym"
                },
                {
                    "name": "G[[qalpha]]",
                    "type": "synonym"
                },
                {
                    "name": "G[q]",
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                },
                {
                    "name": "Galpha49B",
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                },
                {
                    "name": "Galpha49b",
                    "type": "synonym"
                },
                {
                    "name": "Galpha[[q]]",
                    "type": "synonym"
                },
                {
                    "name": "Galphaq",
                    "type": "synonym"
                },
                {
                    "name": "Galpha",
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                },
                {
                    "name": "Gaq",
                    "type": "synonym"
                },
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                    "name": "Gqa-3",
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                },
                {
                    "name": "Gqalpha[[e]]",
                    "type": "synonym"
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                {
                    "name": "Gqalphae",
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                {
                    "name": "Gqalpha{e}",
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                },
                {
                    "name": "Gqalpha",
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                {
                    "name": "Gq",
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                    "name": "dG[[alphaq]]",
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                },
                {
                    "name": "dG[[q]]alpha",
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                {
                    "name": "dGaalpha",
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                    "name": "dGqa-49b",
                    "type": "synonym"
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                    "name": "dGqalpha-3",
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                },
                {
                    "name": "dGqalpha-49b",
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                },
                {
                    "name": "dGqalpha",
                    "type": "synonym"
                },
                {
                    "name": "dGq",
                    "type": "synonym"
                },
                {
                    "name": "dgqalpha",
                    "type": "synonym"
                },
                {
                    "name": "dgq",
                    "type": "synonym"
                },
                {
                    "name": "galpha49B",
                    "type": "synonym"
                },
                {
                    "name": "sast",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111529",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111529"
                }
            ]
        },
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            "uniprot_ac": "Q0E9A7",
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                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Guanine nucleotide-binding protein subunit alpha",
                    "type": "recommended"
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                    "name": "CG30054-PE",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform E",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "14",
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                },
                {
                    "name": "Dmel\\CG30054",
                    "type": "recommended"
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                    "name": "14",
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                    "name": "CG30054",
                    "type": "synonym"
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                {
                    "name": "Dmel\\CG30054",
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                {
                    "name": "Dmel_CG30054",
                    "type": "synonym"
                },
                {
                    "name": "GNAQ/11/14",
                    "type": "synonym"
                },
                {
                    "name": "Galphaq",
                    "type": "synonym"
                },
                {
                    "name": "Gqalpha",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0E9A7-1",
            "evidence": [
                {
                    "id": "0111529",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111529"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111529"
}