{
    "disease_id": "DOID:0112170",
    "recommended_name": {
        "id": "DOID:0112170",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112170",
        "name": "Noonan syndrome 12",
        "description": "A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112170",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112170",
            "name": "NS12",
            "description": ""
        },
        {
            "id": "MONDO:0032839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032839",
            "name": "noonan syndrome 12",
            "description": ""
        },
        {
            "id": "MONDO:0032839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032839",
            "name": "NS12",
            "description": ""
        },
        {
            "id": "MIM:618624",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618624",
            "name": "Noonan syndrome 12",
            "description": "Noonan syndrome 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112170"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112170",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112170",
            "categories": []
        },
        {
            "id": "MONDO:0032839",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032839",
            "categories": []
        },
        {
            "id": "MIM:618624",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618624",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P62071-1",
            "uniprot_ac": "P62071",
            "uniprot_id": "RRAS2_MOUSE",
            "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": "0112170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112170"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62070-1",
            "uniprot_ac": "P62070",
            "uniprot_id": "RRAS2_HUMAN",
            "refseq_ac": "NP_001096139",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein R-Ras2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "Ras-like protein TC21",
                    "type": "synonym"
                },
                {
                    "name": "Teratocarcinoma oncogene",
                    "type": "synonym"
                },
                {
                    "name": "ras-like protein TC21",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein R-Ras2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "related RAS viral (r-ras) oncogene homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "teratocarcinoma oncogene",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RRAS2",
                    "type": "recommended"
                },
                {
                    "name": "NS12",
                    "type": "synonym"
                },
                {
                    "name": "RRAS2",
                    "type": "synonym"
                },
                {
                    "name": "TC21",
                    "type": "synonym"
                }
            ],
            "record_id": "P62070-1",
            "evidence": [
                {
                    "id": "618624",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618624"
                },
                {
                    "id": "0112170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112170"
                }
            ]
        },
        {
            "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",
            "evidence": [
                {
                    "id": "0112170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112170"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01120-1",
            "uniprot_ac": "P01120",
            "uniprot_id": "RAS2_YEAST",
            "refseq_ac": "NP_014301",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "Ras family GTPase RAS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAS2",
                    "type": "recommended"
                },
                {
                    "name": "ASC1",
                    "type": "synonym"
                },
                {
                    "name": "CTN5",
                    "type": "synonym"
                },
                {
                    "name": "CYR3",
                    "type": "synonym"
                },
                {
                    "name": "GLC5",
                    "type": "synonym"
                },
                {
                    "name": "N2198",
                    "type": "synonym"
                },
                {
                    "name": "RAS2",
                    "type": "synonym"
                },
                {
                    "name": "TSL7",
                    "type": "synonym"
                }
            ],
            "record_id": "P01120-1",
            "evidence": [
                {
                    "id": "0112170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112170"
                }
            ]
        },
        {
            "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": "0112170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112170"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04388-1",
            "uniprot_ac": "P04388",
            "uniprot_id": "RAS2_DROME",
            "refseq_ac": "NP_523917",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "CG1167-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ras oncogene at 64B",
                    "type": "synonym"
                },
                {
                    "name": "Ras64B-PA",
                    "type": "synonym"
                },
                {
                    "name": "ras oncogene",
                    "type": "synonym"
                },
                {
                    "name": "small GTP binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ras64B",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE36103",
                    "type": "synonym"
                },
                {
                    "name": "C-ras2",
                    "type": "synonym"
                },
                {
                    "name": "CG1167",
                    "type": "synonym"
                },
                {
                    "name": "D-ras-2",
                    "type": "synonym"
                },
                {
                    "name": "D-ras2",
                    "type": "synonym"
                },
                {
                    "name": "DRas2",
                    "type": "synonym"
                },
                {
                    "name": "Dm-ras-64B",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1167",
                    "type": "synonym"
                },
                {
                    "name": "Dmras64B",
                    "type": "synonym"
                },
                {
                    "name": "Dras2",
                    "type": "synonym"
                },
                {
                    "name": "Dras64B",
                    "type": "synonym"
                },
                {
                    "name": "RAS2",
                    "type": "synonym"
                },
                {
                    "name": "RAS64B",
                    "type": "synonym"
                },
                {
                    "name": "RAS",
                    "type": "synonym"
                },
                {
                    "name": "Ras2",
                    "type": "synonym"
                },
                {
                    "name": "Ras64B",
                    "type": "synonym"
                },
                {
                    "name": "Ras",
                    "type": "synonym"
                },
                {
                    "name": "c-ras2",
                    "type": "synonym"
                },
                {
                    "name": "ras-2",
                    "type": "synonym"
                },
                {
                    "name": "ras2",
                    "type": "synonym"
                },
                {
                    "name": "ras",
                    "type": "synonym"
                }
            ],
            "record_id": "P04388-1",
            "evidence": [
                {
                    "id": "0112170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112170"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112170"
}