{
    "disease_id": "DOID:0050469",
    "recommended_name": {
        "id": "DOID:0050469",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050469",
        "name": "Costello syndrome",
        "description": "A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays."
    },
    "synonyms": [
        {
            "id": "DOID:0050469",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050469",
            "name": "FCS SYNDROME",
            "description": ""
        },
        {
            "id": "DOID:0050469",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050469",
            "name": "Faciocutaneoskeletal Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009026",
            "name": "Costello syndrome",
            "description": "Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors."
        },
        {
            "id": "MONDO:0009026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009026",
            "name": "Costello syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009026",
            "name": "FCS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009026",
            "name": "congenital myopathy with excess of muscle spindles",
            "description": ""
        },
        {
            "id": "MONDO:0009026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009026",
            "name": "faciocutaneoskeletal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009026",
            "name": "CSTLO",
            "description": ""
        },
        {
            "id": "MIM:218040",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/218040",
            "name": "Congenital myopathy with excess of muscle spindles",
            "description": "Congenital myopathy with excess of muscle spindles"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050469"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050469",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050469",
            "categories": []
        },
        {
            "id": "MONDO:0009026",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009026",
            "categories": []
        },
        {
            "id": "MIM:218040",
            "database": "MIM",
            "url": "https://www.omim.org/entry/218040",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61411-1",
            "uniprot_ac": "Q61411",
            "uniprot_id": "RASH_MOUSE",
            "refseq_ac": "NP_001123915",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTPase HRas",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GTPase HRas isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "GTPase HRas",
                    "type": "synonym"
                },
                {
                    "name": "H-Ras-1",
                    "type": "synonym"
                },
                {
                    "name": "H-ras 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Harvey rat sarcoma virus oncogene 1",
                    "type": "synonym"
                },
                {
                    "name": "Transforming protein p21",
                    "type": "synonym"
                },
                {
                    "name": "c-H-ras",
                    "type": "synonym"
                },
                {
                    "name": "c-Ha-ras p21 protein",
                    "type": "synonym"
                },
                {
                    "name": "c-Ha-ras transgene",
                    "type": "synonym"
                },
                {
                    "name": "p21ras",
                    "type": "synonym"
                },
                {
                    "name": "transforming protein P21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hras",
                    "type": "recommended"
                },
                {
                    "name": "H-ras",
                    "type": "synonym"
                },
                {
                    "name": "Ha-ras",
                    "type": "synonym"
                },
                {
                    "name": "Harvey-ras",
                    "type": "synonym"
                },
                {
                    "name": "Hras-1",
                    "type": "synonym"
                },
                {
                    "name": "Hras1",
                    "type": "synonym"
                },
                {
                    "name": "Hras",
                    "type": "synonym"
                },
                {
                    "name": "Kras2",
                    "type": "synonym"
                },
                {
                    "name": "c-H-ras",
                    "type": "synonym"
                },
                {
                    "name": "c-Ha-ras",
                    "type": "synonym"
                },
                {
                    "name": "c-rasHa",
                    "type": "synonym"
                },
                {
                    "name": "ras",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61411-1",
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                {
                    "id": "0050469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10833-1",
            "uniprot_ac": "P10833",
            "uniprot_id": "RRAS_MOUSE",
            "refseq_ac": "NP_033127",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein R-Ras",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "Harvey rat sarcoma oncogene, subgroup R",
                    "type": "synonym"
                },
                {
                    "name": "p23",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein R-Ras isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein R-Ras",
                    "type": "synonym"
                },
                {
                    "name": "related RAS viral (r-ras) oncogene",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rras",
                    "type": "recommended"
                },
                {
                    "name": "Rras1",
                    "type": "synonym"
                },
                {
                    "name": "Rras",
                    "type": "synonym"
                }
            ],
            "record_id": "P10833-1",
            "evidence": [
                {
                    "id": "0050469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62071-1",
            "uniprot_ac": "P62071",
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            "refseq_ac": "NP_080122",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein R-Ras2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein R-Ras2",
                    "type": "synonym"
                },
                {
                    "name": "related RAS viral (r-ras) oncogene 2",
                    "type": "synonym"
                },
                {
                    "name": "related RAS viral (r-ras) oncogene homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rras2",
                    "type": "recommended"
                },
                {
                    "name": "2610016H24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rras2",
                    "type": "synonym"
                },
                {
                    "name": "TC21",
                    "type": "synonym"
                }
            ],
            "record_id": "P62071-1",
            "evidence": [
                {
                    "id": "0050469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01112-1",
            "uniprot_ac": "P01112",
            "uniprot_id": "RASH_HUMAN",
            "refseq_ac": "NP_001123914",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTPase HRas",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GTP- and GDP-binding peptide B",
                    "type": "synonym"
                },
                {
                    "name": "GTPase HRas isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "GTPase HRas",
                    "type": "synonym"
                },
                {
                    "name": "H-Ras-1",
                    "type": "synonym"
                },
                {
                    "name": "Ha-Ras1 proto-oncoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Ha-Ras",
                    "type": "synonym"
                },
                {
                    "name": "Harvey rat sarcoma viral oncogene homolog",
                    "type": "synonym"
                },
                {
                    "name": "Harvey rat sarcoma viral oncoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Ras family small GTP binding protein H-Ras",
                    "type": "synonym"
                },
                {
                    "name": "Transforming protein p21",
                    "type": "synonym"
                },
                {
                    "name": "c-H-ras",
                    "type": "synonym"
                },
                {
                    "name": "c-has/bas p21 protein",
                    "type": "synonym"
                },
                {
                    "name": "p19 H-RasIDX protein",
                    "type": "synonym"
                },
                {
                    "name": "p21ras",
                    "type": "synonym"
                },
                {
                    "name": "transformation gene: oncogene HAMSV",
                    "type": "synonym"
                },
                {
                    "name": "transforming protein p21",
                    "type": "synonym"
                },
                {
                    "name": "v-Ha-ras Harvey rat sarcoma viral oncogene homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HRAS",
                    "type": "recommended"
                },
                {
                    "name": "C-BAS/HAS",
                    "type": "synonym"
                },
                {
                    "name": "C-H-RAS",
                    "type": "synonym"
                },
                {
                    "name": "C-HA-RAS1",
                    "type": "synonym"
                },
                {
                    "name": "CTLO",
                    "type": "synonym"
                },
                {
                    "name": "H-RASIDX",
                    "type": "synonym"
                },
                {
                    "name": "HAMSV",
                    "type": "synonym"
                },
                {
                    "name": "HRAS1",
                    "type": "synonym"
                },
                {
                    "name": "HRAS",
                    "type": "synonym"
                },
                {
                    "name": "RASH1",
                    "type": "synonym"
                },
                {
                    "name": "p21ras",
                    "type": "synonym"
                }
            ],
            "record_id": "P01112-1",
            "evidence": [
                {
                    "id": "218040",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/218040"
                },
                {
                    "id": "0050469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01119-1",
            "uniprot_ac": "P01119",
            "uniprot_id": "RAS1_YEAST",
            "refseq_ac": "NP_014744",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "Ras family GTPase RAS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAS1",
                    "type": "recommended"
                },
                {
                    "name": "RAS1",
                    "type": "synonym"
                },
                {
                    "name": "YOR3205W",
                    "type": "synonym"
                }
            ],
            "record_id": "P01119-1",
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                {
                    "id": "0050469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08644-1",
            "uniprot_ac": "P08644",
            "uniprot_id": "RASK_RAT",
            "refseq_ac": "NP_113703",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTPase KRas",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GTPase KRas",
                    "type": "synonym"
                },
                {
                    "name": "K-Ras 2",
                    "type": "synonym"
                },
                {
                    "name": "Ki-Ras",
                    "type": "synonym"
                },
                {
                    "name": "Kirsten rat sarcoma viral oncogene homologue 2 (active)",
                    "type": "synonym"
                },
                {
                    "name": "c-K-ras2 protein",
                    "type": "synonym"
                },
                {
                    "name": "c-K-ras",
                    "type": "synonym"
                },
                {
                    "name": "c-Ki-ras",
                    "type": "synonym"
                },
                {
                    "name": "c-Kirsten-ras proto-oncogene",
                    "type": "synonym"
                },
                {
                    "name": "ki-Ras",
                    "type": "synonym"
                },
                {
                    "name": "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Hras",
                    "type": "recommended"
                },
                {
                    "name": "Kras",
                    "type": "recommended"
                },
                {
                    "name": "Nras",
                    "type": "recommended"
                },
                {
                    "name": "Hras",
                    "type": "synonym"
                },
                {
                    "name": "K-ras",
                    "type": "synonym"
                },
                {
                    "name": "Kras2",
                    "type": "synonym"
                },
                {
                    "name": "Kras",
                    "type": "synonym"
                },
                {
                    "name": "c-Ki-ras",
                    "type": "synonym"
                },
                {
                    "name": "p21",
                    "type": "synonym"
                }
            ],
            "record_id": "P08644-1",
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                {
                    "id": "0050469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AHV4-1",
            "uniprot_ac": "A0A8I6AHV4",
            "uniprot_id": "A0A8I6AHV4_RAT",
            "refseq_ac": "NP_001395928",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "small monomeric GTPase",
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                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GTPase HRas",
                    "type": "synonym"
                },
                {
                    "name": "HRas proto-oncogene, GTPase like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hrasl1",
                    "type": "recommended"
                },
                {
                    "name": "AABR07039356.1",
                    "type": "synonym"
                },
                {
                    "name": "Hrasl1",
                    "type": "synonym"
                },
                {
                    "name": "LOC367858",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AHV4-1",
            "evidence": [
                {
                    "id": "0050469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z8L7-1",
            "uniprot_ac": "D3Z8L7",
            "uniprot_id": "RRAS_RAT",
            "refseq_ac": "NP_001101951",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein R-Ras",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
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                },
                {
                    "name": "Harvey rat sarcoma oncogene, subgroup R",
                    "type": "synonym"
                },
                {
                    "name": "Harvey rat sarcoma virus oncogene, subgroup R",
                    "type": "synonym"
                },
                {
                    "name": "RAS-related viral oncoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Ras-related protein R-RAS (P23)",
                    "type": "synonym"
                },
                {
                    "name": "p23",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein R-Ras",
                    "type": "synonym"
                },
                {
                    "name": "related RAS viral (r-ras) oncogene homolog",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Rras",
                    "type": "recommended"
                },
                {
                    "name": "Rras",
                    "type": "synonym"
                },
                {
                    "name": "p23",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z8L7-1",
            "evidence": [
                {
                    "id": "0050469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BJU0-1",
            "uniprot_ac": "Q5BJU0",
            "uniprot_id": "Q5BJU0_RAT",
            "refseq_ac": "NP_001013452",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAS related 2",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein R-Ras2",
                    "type": "synonym"
                },
                {
                    "name": "related RAS viral (r-ras) oncogene homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rras2",
                    "type": "recommended"
                },
                {
                    "name": "Rras2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BJU0-1",
            "evidence": [
                {
                    "id": "0050469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08646-1",
            "uniprot_ac": "P08646",
            "uniprot_id": "RAS1_DROME",
            "refseq_ac": "NP_476699",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "CG9375-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dmras85D",
                    "type": "synonym"
                },
                {
                    "name": "Dras1",
                    "type": "synonym"
                },
                {
                    "name": "Ras GTPase",
                    "type": "synonym"
                },
                {
                    "name": "Ras oncogene at 85B",
                    "type": "synonym"
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                {
                    "name": "Ras oncogene at 85D",
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                {
                    "name": "Ras1",
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                },
                {
                    "name": "Ras85D-PA",
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                {
                    "name": "enhancer of faf",
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                }
            ],
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                    "name": "Ras85D",
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                    "name": "CG9375",
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                    "name": "D-Ras1",
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                {
                    "name": "D-Ras",
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                {
                    "name": "D-ras-1",
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                {
                    "name": "D-ras1",
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                    "name": "DRas",
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                {
                    "name": "Dm Ras1",
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                    "name": "Dmel\\CG9375",
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                    "name": "E(faf)",
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                    "name": "E(sev)3C",
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                {
                    "name": "EC3-3",
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                {
                    "name": "EK3-4",
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                    "name": "P08646",
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                    "name": "RAS85D",
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                {
                    "name": "RAS",
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                {
                    "name": "RTK",
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                    "name": "Ras 85D",
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                    "name": "Ras-1",
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                    "name": "Ras.85D",
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                {
                    "name": "Ras1/RAs85D",
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                    "name": "Ras185D",
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                {
                    "name": "Ras1",
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                },
                {
                    "name": "Ras85DNt",
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                {
                    "name": "Ras85D",
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                {
                    "name": "Ras85d",
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                {
                    "name": "Ras85",
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                {
                    "name": "RasI",
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                    "name": "RasV12",
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                    "name": "Ras[V12]",
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                    "name": "Rasv12",
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                    "name": "Ras",
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                    "name": "S35097",
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                {
                    "name": "Su(tor)3-2",
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                    "name": "dras1",
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                    "name": "fs(3)05703",
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                    "name": "l(3)06677",
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                    "name": "p21[Ras1]",
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                    "name": "ras1",
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                    "name": "ras85B",
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                    "name": "ras85D",
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                    "name": "ras",
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            ]
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                {
                    "name": "Drosophila melanogaster",
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                }
            ],
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                {
                    "name": "Ras-like protein 2",
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                    "name": "3.6.5.2",
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                    "name": "CG1167-PA",
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                    "name": "Ras oncogene at 64B",
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                {
                    "name": "Ras64B-PA",
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                    "name": "ras oncogene",
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                    "name": "BcDNA:RE36103",
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                    "name": "D-ras2",
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                    "name": "DRas2",
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                    "name": "Dras2",
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                    "name": "RAS2",
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                    "name": "RAS",
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                    "name": "Ras2",
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                    "name": "Ras",
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                    "name": "ras2",
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                    "name": "Ras-like protein TC21",
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                    "name": "Teratocarcinoma oncogene",
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                    "name": "ras-like protein TC21",
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                {
                    "name": "ras-related protein R-Ras2 isoform b",
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                    "name": "related RAS viral (r-ras) oncogene homolog 2",
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                }
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                    "name": "oncogene RRAS",
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                    "name": "p23",
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                {
                    "name": "ras family small GTP binding protein R-Ras",
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                {
                    "name": "ras-related protein R-Ras",
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                    "name": "related RAS viral (r-ras) oncogene homolog",
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                    "name": "R-Ras",
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                },
                {
                    "name": "RRAS1",
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                    "name": "RRAS",
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                    "id": "0050469",
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                }
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        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050469"
}