{
    "disease_id": "DOID:0060586",
    "recommended_name": {
        "id": "DOID:0060586",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060586",
        "name": "Noonan syndrome 8",
        "description": "A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060586",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060586",
            "name": "NS8",
            "description": ""
        },
        {
            "id": "MONDO:0014143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014143",
            "name": "Noonan syndrome 8",
            "description": "Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene."
        },
        {
            "id": "MONDO:0014143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014143",
            "name": "NS8",
            "description": ""
        },
        {
            "id": "MONDO:0014143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014143",
            "name": "Noonan syndrome 8",
            "description": ""
        },
        {
            "id": "MONDO:0014143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014143",
            "name": "Noonan syndrome caused by mutation in RIT1",
            "description": ""
        },
        {
            "id": "MONDO:0014143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014143",
            "name": "Noonan syndrome type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014143",
            "name": "RIT1 Noonan syndrome",
            "description": ""
        },
        {
            "id": "MIM:615355",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615355",
            "name": "Noonan syndrome 8",
            "description": "Noonan syndrome 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060586"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060586",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060586",
            "categories": []
        },
        {
            "id": "MONDO:0014143",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014143",
            "categories": []
        },
        {
            "id": "MIM:615355",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615355",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P70426-1",
            "uniprot_ac": "P70426",
            "uniprot_id": "RIT1_MOUSE",
            "refseq_ac": "NP_033095",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTP-binding protein Rit1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein Rit1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein Rit1",
                    "type": "synonym"
                },
                {
                    "name": "RAS-like protein expressed in many tissues",
                    "type": "synonym"
                },
                {
                    "name": "Ras-like protein expressed in many tissues",
                    "type": "synonym"
                },
                {
                    "name": "Ras-like without CAAX protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ras-like without CAAX protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rit1",
                    "type": "recommended"
                },
                {
                    "name": "RIBB",
                    "type": "synonym"
                },
                {
                    "name": "ROC1",
                    "type": "synonym"
                },
                {
                    "name": "Rit1",
                    "type": "synonym"
                },
                {
                    "name": "Rit",
                    "type": "synonym"
                }
            ],
            "record_id": "P70426-1",
            "evidence": [
                {
                    "id": "0060586",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060586"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92963-1",
            "uniprot_ac": "Q92963",
            "uniprot_id": "RIT1_HUMAN",
            "refseq_ac": "NP_001243749",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTP-binding protein Rit1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein Rit1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein Rit1",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein Roc1",
                    "type": "synonym"
                },
                {
                    "name": "Ras-like protein expressed in many tissues",
                    "type": "synonym"
                },
                {
                    "name": "Ras-like without CAAX protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Ric-like, expressed in many tissues",
                    "type": "synonym"
                },
                {
                    "name": "ras-like protein expressed in many tissues",
                    "type": "synonym"
                },
                {
                    "name": "ras-like without CAAX protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RIT1",
                    "type": "recommended"
                },
                {
                    "name": "NS8",
                    "type": "synonym"
                },
                {
                    "name": "RIBB",
                    "type": "synonym"
                },
                {
                    "name": "RIT1",
                    "type": "synonym"
                },
                {
                    "name": "RIT",
                    "type": "synonym"
                },
                {
                    "name": "ROC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92963-1",
            "evidence": [
                {
                    "id": "615355",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615355"
                },
                {
                    "id": "0060586",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060586"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ABM0-1",
            "uniprot_ac": "A0A8I6ABM0",
            "uniprot_id": "A0A8I6ABM0_RAT",
            "refseq_ac": "NP_001383470",
            "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",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein Rit1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein Rit1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rit1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1559874",
                    "type": "synonym"
                },
                {
                    "name": "Rit1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6ABM0-1",
            "evidence": [
                {
                    "id": "0060586",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060586"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060586"
}