{
    "disease_id": "DOID:0070484",
    "recommended_name": {
        "id": "DOID:0070484",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070484",
        "name": "Legius syndrome",
        "description": "A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14."
    },
    "synonyms": [
        {
            "id": "DOID:0070484",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070484",
            "name": "LGSS",
            "description": ""
        },
        {
            "id": "DOID:0070484",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070484",
            "name": "NF1-like syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070484",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070484",
            "name": "neurofibromatosis type 1-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012669",
            "name": "Legius syndrome",
            "description": "Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling."
        },
        {
            "id": "MONDO:0012669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012669",
            "name": "Legius syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012669",
            "name": "NF1-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012669",
            "name": "neurofibromatosis 1-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012669",
            "name": "neurofibromatosis type 1 like syndrome",
            "description": ""
        },
        {
            "id": "MIM:611431",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611431",
            "name": "Legius syndrome",
            "description": "Legius syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070484"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070484",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070484",
            "categories": []
        },
        {
            "id": "MONDO:0012669",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012669",
            "categories": []
        },
        {
            "id": "MIM:611431",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611431",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q924S8-1",
            "uniprot_ac": "Q924S8",
            "uniprot_id": "SPRE1_MOUSE",
            "refseq_ac": "NP_001264185",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sprouty-related, EVH1 domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Spred-1",
                    "type": "synonym"
                },
                {
                    "name": "sprouty-related protein 1 with EVH-1 domain",
                    "type": "synonym"
                },
                {
                    "name": "sprouty-related, EVH1 domain-containing protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sprouty-related, EVH1 domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spred1",
                    "type": "recommended"
                },
                {
                    "name": "5730461F13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Spred1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924S8-1",
            "evidence": [
                {
                    "id": "0070484",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070484"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z699-1",
            "uniprot_ac": "Q7Z699",
            "uniprot_id": "SPRE1_HUMAN",
            "refseq_ac": "NP_689807",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sprouty-related, EVH1 domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Spred-1",
                    "type": "synonym"
                },
                {
                    "name": "hSpred1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 147",
                    "type": "synonym"
                },
                {
                    "name": "sprouty-related, EVH1 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of Ras/MAPK activation",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPRED1",
                    "type": "recommended"
                },
                {
                    "name": "LGSS",
                    "type": "synonym"
                },
                {
                    "name": "NFLS",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R147",
                    "type": "synonym"
                },
                {
                    "name": "SPRED1",
                    "type": "synonym"
                },
                {
                    "name": "hSpred1",
                    "type": "synonym"
                },
                {
                    "name": "spred-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z699-1",
            "evidence": [
                {
                    "id": "611431",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611431"
                },
                {
                    "id": "0070484",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070484"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KG11-1",
            "uniprot_ac": "A0A0B4KG11",
            "uniprot_id": "A0A0B4KG11_DROME",
            "refseq_ac": "NP_001260979",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10155-PC",
                    "type": "synonym"
                },
                {
                    "name": "Spred-PC",
                    "type": "synonym"
                },
                {
                    "name": "Sprouty-related protein with EVH-1 domain, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spred",
                    "type": "recommended"
                },
                {
                    "name": "AE33",
                    "type": "synonym"
                },
                {
                    "name": "CG10155",
                    "type": "synonym"
                },
                {
                    "name": "Dm AE33",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10155",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10155",
                    "type": "synonym"
                },
                {
                    "name": "Spred",
                    "type": "synonym"
                },
                {
                    "name": "dSPRED",
                    "type": "synonym"
                },
                {
                    "name": "spred",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KG11-1",
            "evidence": [
                {
                    "id": "0070484",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070484"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070484"
}