{
    "disease_id": "DOID:0070481",
    "recommended_name": {
        "id": "DOID:0070481",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070481",
        "name": "schwannomatosis 2",
        "description": "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070481",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070481",
            "name": "LZTR1-related schwannomatosis",
            "description": ""
        },
        {
            "id": "DOID:0070481",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070481",
            "name": "SWN2",
            "description": ""
        },
        {
            "id": "MONDO:0014299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014299",
            "name": "LZTR1-related schwannomatosis",
            "description": ""
        },
        {
            "id": "MONDO:0014299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014299",
            "name": "Schwannomatosis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014299",
            "name": "schwannomatosis 2",
            "description": ""
        },
        {
            "id": "MONDO:0014299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014299",
            "name": "SWNTS2",
            "description": ""
        },
        {
            "id": "MIM:615670",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615670",
            "name": "Schwannomatosis 2",
            "description": "Schwannomatosis 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070481"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070481",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070481",
            "categories": []
        },
        {
            "id": "MONDO:0014299",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014299",
            "categories": []
        },
        {
            "id": "MIM:615670",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615670",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NBN9-1",
            "uniprot_ac": "A0A8M1NBN9",
            "uniprot_id": "A0A8M1NBN9_DANRE",
            "refseq_ac": "NP_001074074",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-zipper-like transcriptional regulator 1",
                    "type": "synonym"
                },
                {
                    "name": "leucine-zipper-like transcription regulator 1",
                    "type": "synonym"
                },
                {
                    "name": "leucine-zipper-like transcriptional regulator 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lztr1",
                    "type": "recommended"
                },
                {
                    "name": "fj87c05",
                    "type": "synonym"
                },
                {
                    "name": "lztr1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-98f17.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj87c05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158250",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NBN9-1",
            "evidence": [
                {
                    "id": "0070481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070481"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQ33-1",
            "uniprot_ac": "Q9CQ33",
            "uniprot_id": "LZTR1_MOUSE",
            "refseq_ac": "NP_001318155",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-zipper-like transcriptional regulator 1",
                    "type": "recommended"
                },
                {
                    "name": "LZTR-1",
                    "type": "synonym"
                },
                {
                    "name": "leucine-zipper-like transcriptional regulator 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lztr1",
                    "type": "recommended"
                },
                {
                    "name": "1200003E21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lztr1",
                    "type": "synonym"
                },
                {
                    "name": "Tcfl2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQ33-1",
            "evidence": [
                {
                    "id": "0070481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070481"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N653-1",
            "uniprot_ac": "Q8N653",
            "uniprot_id": "LZTR1_HUMAN",
            "refseq_ac": "NP_006758",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-zipper-like transcriptional regulator 1",
                    "type": "recommended"
                },
                {
                    "name": "LZTR-1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "leucine zipper like transcription regulator 1",
                    "type": "synonym"
                },
                {
                    "name": "leucine-zipper-like transcriptional regulator 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LZTR1",
                    "type": "recommended"
                },
                {
                    "name": "BTBD29",
                    "type": "synonym"
                },
                {
                    "name": "LZTR-1",
                    "type": "synonym"
                },
                {
                    "name": "LZTR1",
                    "type": "synonym"
                },
                {
                    "name": "NS10",
                    "type": "synonym"
                },
                {
                    "name": "NS2",
                    "type": "synonym"
                },
                {
                    "name": "SWNTS2",
                    "type": "synonym"
                },
                {
                    "name": "TCFL2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N653-1",
            "evidence": [
                {
                    "id": "615670",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615670"
                },
                {
                    "id": "0070481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070481"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABZ3NNP9-1",
            "uniprot_ac": "A0ABZ3NNP9",
            "uniprot_id": "A0ABZ3NNP9_RAT",
            "refseq_ac": "XP_006248769",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-zipper-like transcriptional regulator 1",
                    "type": "recommended"
                },
                {
                    "name": "leucine-zipper-like transcriptional regulator 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lztr1",
                    "type": "recommended"
                },
                {
                    "name": "Lztr1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABZ3NNP9-1",
            "evidence": [
                {
                    "id": "0070481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070481"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V410-1",
            "uniprot_ac": "Q9V410",
            "uniprot_id": "LZTR1_DROME",
            "refseq_ac": "NP_569869",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-zipper-like transcriptional regulator 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG3711-PE",
                    "type": "synonym"
                },
                {
                    "name": "Lztr1-PE",
                    "type": "synonym"
                },
                {
                    "name": "leucine zipper like transcription regulator 1, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "night owl",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lztr1",
                    "type": "recommended"
                },
                {
                    "name": "CG3711",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3711",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3711",
                    "type": "synonym"
                },
                {
                    "name": "EG:BACR7A4.19",
                    "type": "synonym"
                },
                {
                    "name": "LZTR1",
                    "type": "synonym"
                },
                {
                    "name": "Lztr1",
                    "type": "synonym"
                },
                {
                    "name": "night owl",
                    "type": "synonym"
                },
                {
                    "name": "nowl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V410-1",
            "evidence": [
                {
                    "id": "0070481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070481"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070481"
}