{
    "disease_id": "DOID:0060587",
    "recommended_name": {
        "id": "DOID:0060587",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060587",
        "name": "Noonan syndrome 9",
        "description": "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21."
    },
    "synonyms": [
        {
            "id": "DOID:0060587",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060587",
            "name": "NS9",
            "description": ""
        },
        {
            "id": "MONDO:0014691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014691",
            "name": "Noonan syndrome 9",
            "description": "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene."
        },
        {
            "id": "MONDO:0014691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014691",
            "name": "NS9",
            "description": ""
        },
        {
            "id": "MONDO:0014691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014691",
            "name": "Noonan syndrome 9",
            "description": ""
        },
        {
            "id": "MONDO:0014691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014691",
            "name": "Noonan syndrome caused by mutation in SOS2",
            "description": ""
        },
        {
            "id": "MONDO:0014691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014691",
            "name": "Noonan syndrome type 9",
            "description": ""
        },
        {
            "id": "MONDO:0014691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014691",
            "name": "SOS2 Noonan syndrome",
            "description": ""
        },
        {
            "id": "MIM:616559",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616559",
            "name": "Noonan syndrome 9",
            "description": "Noonan syndrome 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060587"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060587",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060587",
            "categories": []
        },
        {
            "id": "MONDO:0014691",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014691",
            "categories": []
        },
        {
            "id": "MIM:616559",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616559",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R019-1",
            "uniprot_ac": "F1R019",
            "uniprot_id": "F1R019_DANRE",
            "refseq_ac": "NP_001334612",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Son of sevenless homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "son of sevenless homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sos2",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-67f24.8",
                    "type": "synonym"
                },
                {
                    "name": "sos2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R019-1",
            "evidence": [
                {
                    "id": "0060587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060587"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02384-1",
            "uniprot_ac": "Q02384",
            "uniprot_id": "SOS2_MOUSE",
            "refseq_ac": "XP_006515698",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Son of sevenless homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "SOS-2",
                    "type": "synonym"
                },
                {
                    "name": "mSOS-2",
                    "type": "synonym"
                },
                {
                    "name": "son of sevenless homolog 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sos2",
                    "type": "recommended"
                },
                {
                    "name": "SOS-2",
                    "type": "synonym"
                },
                {
                    "name": "Sos2",
                    "type": "synonym"
                },
                {
                    "name": "mSOS-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02384-1",
            "evidence": [
                {
                    "id": "0060587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060587"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07890-1",
            "uniprot_ac": "Q07890",
            "uniprot_id": "SOS2_HUMAN",
            "refseq_ac": "NP_008870",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Son of sevenless homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "SOS-2",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide releasing factor",
                    "type": "synonym"
                },
                {
                    "name": "son of sevenless homolog 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "son of sevenless homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SOS2",
                    "type": "recommended"
                },
                {
                    "name": "NS9",
                    "type": "synonym"
                },
                {
                    "name": "SOS-2",
                    "type": "synonym"
                },
                {
                    "name": "SOS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07890-1",
            "evidence": [
                {
                    "id": "616559",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616559"
                },
                {
                    "id": "0060587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060587"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04821-1",
            "uniprot_ac": "P04821",
            "uniprot_id": "CDC25_YEAST",
            "refseq_ac": "NP_013413",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cell division control protein 25",
                    "type": "recommended"
                },
                {
                    "name": "Ras family guanine nucleotide exchange factor CDC25",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDC25",
                    "type": "recommended"
                },
                {
                    "name": "CDC25",
                    "type": "synonym"
                },
                {
                    "name": "CTN1",
                    "type": "synonym"
                },
                {
                    "name": "L2142.6",
                    "type": "synonym"
                }
            ],
            "record_id": "P04821-1",
            "evidence": [
                {
                    "id": "0060587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060587"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M1M3-1",
            "uniprot_ac": "A0ABK0M1M3",
            "uniprot_id": "A0ABK0M1M3_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": "SOS Ras/Rho guanine nucleotide exchange factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sos2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0M1M3-1",
            "evidence": [
                {
                    "id": "0060587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060587"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26675-1",
            "uniprot_ac": "P26675",
            "uniprot_id": "SOS_DROME",
            "refseq_ac": "NP_476597",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein son of sevenless",
                    "type": "recommended"
                },
                {
                    "name": "CG7793-PA",
                    "type": "synonym"
                },
                {
                    "name": "Son of sevenless",
                    "type": "synonym"
                },
                {
                    "name": "Son-of-sevenless",
                    "type": "synonym"
                },
                {
                    "name": "Sos-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal 24 in the black-reduced region",
                    "type": "synonym"
                },
                {
                    "name": "lethal 25 in the black-reduced region",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sos",
                    "type": "recommended"
                },
                {
                    "name": "2.3",
                    "type": "synonym"
                },
                {
                    "name": "34Ea",
                    "type": "synonym"
                },
                {
                    "name": "BG:DS00941.4",
                    "type": "synonym"
                },
                {
                    "name": "CG7793",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7793",
                    "type": "synonym"
                },
                {
                    "name": "E(sev)2A",
                    "type": "synonym"
                },
                {
                    "name": "E(var)189",
                    "type": "synonym"
                },
                {
                    "name": "EC2-5",
                    "type": "synonym"
                },
                {
                    "name": "EK2-8",
                    "type": "synonym"
                },
                {
                    "name": "EY2-3",
                    "type": "synonym"
                },
                {
                    "name": "SOS",
                    "type": "synonym"
                },
                {
                    "name": "SoS",
                    "type": "synonym"
                },
                {
                    "name": "Sos1",
                    "type": "synonym"
                },
                {
                    "name": "Sos",
                    "type": "synonym"
                },
                {
                    "name": "Su(tor)2-2",
                    "type": "synonym"
                },
                {
                    "name": "br24",
                    "type": "synonym"
                },
                {
                    "name": "br25",
                    "type": "synonym"
                },
                {
                    "name": "dSos",
                    "type": "synonym"
                },
                {
                    "name": "dme-SOS",
                    "type": "synonym"
                },
                {
                    "name": "l(2)34Ea",
                    "type": "synonym"
                },
                {
                    "name": "l(2)Sos",
                    "type": "synonym"
                },
                {
                    "name": "l(2)br24",
                    "type": "synonym"
                },
                {
                    "name": "l(2)br25",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k05224",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k06321",
                    "type": "synonym"
                },
                {
                    "name": "sos",
                    "type": "synonym"
                }
            ],
            "record_id": "P26675-1",
            "evidence": [
                {
                    "id": "0060587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060587"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060587"
}
