{
    "disease_id": "DOID:0060585",
    "recommended_name": {
        "id": "DOID:0060585",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060585",
        "name": "Noonan syndrome 7",
        "description": "A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060585",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060585",
            "name": "NS7",
            "description": ""
        },
        {
            "id": "MONDO:0013379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013379",
            "name": "Noonan syndrome 7",
            "description": "Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene."
        },
        {
            "id": "MONDO:0013379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013379",
            "name": "BRAF Noonan syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013379",
            "name": "NS7",
            "description": ""
        },
        {
            "id": "MONDO:0013379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013379",
            "name": "Noonan syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0013379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013379",
            "name": "Noonan syndrome caused by mutation in BRAF",
            "description": ""
        },
        {
            "id": "MONDO:0013379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013379",
            "name": "Noonan syndrome type 7",
            "description": ""
        },
        {
            "id": "MIM:613706",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613706",
            "name": "Noonan syndrome 7",
            "description": "Noonan syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060585"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060585",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060585",
            "categories": []
        },
        {
            "id": "MONDO:0013379",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013379",
            "categories": []
        },
        {
            "id": "MIM:613706",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613706",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LYG2-1",
            "uniprot_ac": "Q1LYG2",
            "uniprot_id": "Q1LYG2_DANRE",
            "refseq_ac": "NP_001311445",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase BRAF",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase B-raf isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "v-raf murine sarcoma viral oncogene homolog B1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "braf",
                    "type": "recommended"
                },
                {
                    "name": "braf",
                    "type": "synonym"
                },
                {
                    "name": "sierrabraf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LYG2-1",
            "evidence": [
                {
                    "id": "0060585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28028-3",
            "uniprot_ac": "P28028",
            "uniprot_id": "BRAF_MOUSE",
            "refseq_ac": "NP_647455",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase B-raf",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "B-Raf proto-oncogene serine/threonine-protein kinase (p94)",
                    "type": "synonym"
                },
                {
                    "name": "Braf transforming",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene B-Raf",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene B-Raf",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase B-raf",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Braf",
                    "type": "recommended"
                },
                {
                    "name": "9930012E13Rik",
                    "type": "synonym"
                },
                {
                    "name": "B-raf",
                    "type": "synonym"
                },
                {
                    "name": "Braf-2",
                    "type": "synonym"
                },
                {
                    "name": "Braf2",
                    "type": "synonym"
                },
                {
                    "name": "Braf",
                    "type": "synonym"
                },
                {
                    "name": "C230098H17",
                    "type": "synonym"
                },
                {
                    "name": "D6Ertd631e",
                    "type": "synonym"
                }
            ],
            "record_id": "P28028-3",
            "evidence": [
                {
                    "id": "0060585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15056-1",
            "uniprot_ac": "P15056",
            "uniprot_id": "BRAF_HUMAN",
            "refseq_ac": "NP_004324",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase B-raf",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "94 kDa B-raf protein",
                    "type": "synonym"
                },
                {
                    "name": "B-Raf proto-oncogene serine/threonine-protein kinase (p94)",
                    "type": "synonym"
                },
                {
                    "name": "B-Raf serine/threonine-protein",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene B-Raf",
                    "type": "synonym"
                },
                {
                    "name": "murine sarcoma viral (v-raf) oncogene homolog B1",
                    "type": "synonym"
                },
                {
                    "name": "p94",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene B-Raf",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase B-raf isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase B-raf",
                    "type": "synonym"
                },
                {
                    "name": "v-Raf murine sarcoma viral oncogene homolog B1",
                    "type": "synonym"
                },
                {
                    "name": "v-raf murine sarcoma viral oncogene homolog B1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BRAF",
                    "type": "recommended"
                },
                {
                    "name": "B-RAF1",
                    "type": "synonym"
                },
                {
                    "name": "B-raf",
                    "type": "synonym"
                },
                {
                    "name": "BRAF-1",
                    "type": "synonym"
                },
                {
                    "name": "BRAF1",
                    "type": "synonym"
                },
                {
                    "name": "BRAF",
                    "type": "synonym"
                },
                {
                    "name": "NS7",
                    "type": "synonym"
                },
                {
                    "name": "RAFB1",
                    "type": "synonym"
                }
            ],
            "record_id": "P15056-1",
            "evidence": [
                {
                    "id": "613706",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613706"
                },
                {
                    "id": "0060585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LDY4-1",
            "uniprot_ac": "A0ABK0LDY4",
            "uniprot_id": "A0ABK0LDY4_RAT",
            "refseq_ac": "XP_063141466",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase B-raf isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Braf",
                    "type": "recommended"
                },
                {
                    "name": "Braf",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LDY4-1",
            "evidence": [
                {
                    "id": "0060585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11346-1",
            "uniprot_ac": "P11346",
            "uniprot_id": "KRAF1_DROME",
            "refseq_ac": "NP_001096867",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Raf homolog serine/threonine-protein kinase Raf",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG2845-PE",
                    "type": "synonym"
                },
                {
                    "name": "D-Raf",
                    "type": "synonym"
                },
                {
                    "name": "Protein pole-hole",
                    "type": "synonym"
                },
                {
                    "name": "Raf oncogene, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "Raf-PE",
                    "type": "synonym"
                },
                {
                    "name": "dRAF-1",
                    "type": "synonym"
                },
                {
                    "name": "l(1)pole hole",
                    "type": "synonym"
                },
                {
                    "name": "pole-hole",
                    "type": "synonym"
                },
                {
                    "name": "polehole",
                    "type": "synonym"
                },
                {
                    "name": "raf-like-oncogene-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Raf",
                    "type": "recommended"
                },
                {
                    "name": "11-29",
                    "type": "synonym"
                },
                {
                    "name": "C110",
                    "type": "synonym"
                },
                {
                    "name": "CG2845",
                    "type": "synonym"
                },
                {
                    "name": "D-RAF",
                    "type": "synonym"
                },
                {
                    "name": "D-Raf",
                    "type": "synonym"
                },
                {
                    "name": "D-raf1",
                    "type": "synonym"
                },
                {
                    "name": "D-raf",
                    "type": "synonym"
                },
                {
                    "name": "DRaf1",
                    "type": "synonym"
                },
                {
                    "name": "DRaf",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2845",
                    "type": "synonym"
                },
                {
                    "name": "Draf-1",
                    "type": "synonym"
                },
                {
                    "name": "Draf1",
                    "type": "synonym"
                },
                {
                    "name": "Draf",
                    "type": "synonym"
                },
                {
                    "name": "EG:BACH48C10.3",
                    "type": "synonym"
                },
                {
                    "name": "Phl",
                    "type": "synonym"
                },
                {
                    "name": "RAF",
                    "type": "synonym"
                },
                {
                    "name": "Raf/phl",
                    "type": "synonym"
                },
                {
                    "name": "Raf1",
                    "type": "synonym"
                },
                {
                    "name": "Raf",
                    "type": "synonym"
                },
                {
                    "name": "dRaf",
                    "type": "synonym"
                },
                {
                    "name": "draf",
                    "type": "synonym"
                },
                {
                    "name": "l(1)2Fe",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0475",
                    "type": "synonym"
                },
                {
                    "name": "l(1)phl",
                    "type": "synonym"
                },
                {
                    "name": "l(1)ph",
                    "type": "synonym"
                },
                {
                    "name": "l(1)pole hole",
                    "type": "synonym"
                },
                {
                    "name": "l(1)polehole/draf",
                    "type": "synonym"
                },
                {
                    "name": "l(1)polehole",
                    "type": "synonym"
                },
                {
                    "name": "l(1)raf",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.937",
                    "type": "synonym"
                },
                {
                    "name": "ph1",
                    "type": "synonym"
                },
                {
                    "name": "phl",
                    "type": "synonym"
                },
                {
                    "name": "ph",
                    "type": "synonym"
                },
                {
                    "name": "raf-1",
                    "type": "synonym"
                },
                {
                    "name": "raf1",
                    "type": "synonym"
                },
                {
                    "name": "rafl",
                    "type": "synonym"
                },
                {
                    "name": "raf",
                    "type": "synonym"
                }
            ],
            "record_id": "P11346-1",
            "evidence": [
                {
                    "id": "0060585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060585"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060585"
}