{
    "disease_id": "DOID:0070667",
    "recommended_name": {
        "id": "DOID:0070667",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070667",
        "name": "infantile myofibromatosis 2",
        "description": "An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014122",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014122",
            "name": "myofibromatosis, infantile, 2",
            "description": "Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene."
        },
        {
            "id": "MONDO:0014122",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014122",
            "name": "NOTCH3 myofibromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0014122",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014122",
            "name": "myofibromatosis caused by mutation in NOTCH3",
            "description": ""
        },
        {
            "id": "MONDO:0014122",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014122",
            "name": "myofibromatosis, infantile 2",
            "description": ""
        },
        {
            "id": "MONDO:0014122",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014122",
            "name": "myofibromatosis, infantile, 2",
            "description": ""
        },
        {
            "id": "MONDO:0014122",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014122",
            "name": "myofibromatosis, infantile, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014122",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014122",
            "name": "IMF2",
            "description": ""
        },
        {
            "id": "MIM:615293",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615293",
            "name": "Myofibromatosis, infantile 2",
            "description": "Myofibromatosis, infantile 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070667"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070667",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070667",
            "categories": []
        },
        {
            "id": "MONDO:0014122",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014122",
            "categories": []
        },
        {
            "id": "MIM:615293",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615293",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61982-1",
            "uniprot_ac": "Q61982",
            "uniprot_id": "NOTC3_MOUSE",
            "refseq_ac": "NP_032742",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic locus notch homolog protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Notch 3",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic locus notch homolog protein 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic locus notch homolog protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Notch3",
                    "type": "recommended"
                },
                {
                    "name": "N3",
                    "type": "synonym"
                },
                {
                    "name": "Notch3",
                    "type": "synonym"
                },
                {
                    "name": "hpbk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61982-1",
            "evidence": [
                {
                    "id": "0070667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070667"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UM47-1",
            "uniprot_ac": "Q9UM47",
            "uniprot_id": "NOTC3_HUMAN",
            "refseq_ac": "NP_000426",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic locus notch homolog protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Notch 3",
                    "type": "synonym"
                },
                {
                    "name": "Notch homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic locus notch homolog protein 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic locus notch homolog protein 3",
                    "type": "synonym"
                },
                {
                    "name": "notch 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NOTCH3",
                    "type": "recommended"
                },
                {
                    "name": "CADASIL1",
                    "type": "synonym"
                },
                {
                    "name": "CADASIL",
                    "type": "synonym"
                },
                {
                    "name": "CARASIL1",
                    "type": "synonym"
                },
                {
                    "name": "CASIL",
                    "type": "synonym"
                },
                {
                    "name": "FPLD1",
                    "type": "synonym"
                },
                {
                    "name": "IMF2",
                    "type": "synonym"
                },
                {
                    "name": "LMNS",
                    "type": "synonym"
                },
                {
                    "name": "NOTCH3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UM47-1",
            "evidence": [
                {
                    "id": "615293",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615293"
                },
                {
                    "id": "0070667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070667"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R172-1",
            "uniprot_ac": "Q9R172",
            "uniprot_id": "NOTC3_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic locus notch homolog protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Notch 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Notch3",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9R172-1",
            "evidence": [
                {
                    "id": "0070667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070667"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07207-1",
            "uniprot_ac": "P07207",
            "uniprot_id": "NOTCH_DROME",
            "refseq_ac": "NP_001245510",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic locus Notch protein",
                    "type": "recommended"
                },
                {
                    "name": "CG3936-PB",
                    "type": "synonym"
                },
                {
                    "name": "N-PB",
                    "type": "synonym"
                },
                {
                    "name": "NICD",
                    "type": "synonym"
                },
                {
                    "name": "abruptex",
                    "type": "synonym"
                },
                {
                    "name": "chopped",
                    "type": "synonym"
                },
                {
                    "name": "confluens",
                    "type": "synonym"
                },
                {
                    "name": "dNotch",
                    "type": "synonym"
                },
                {
                    "name": "facet",
                    "type": "synonym"
                },
                {
                    "name": "notch, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "notchoid",
                    "type": "synonym"
                },
                {
                    "name": "split",
                    "type": "synonym"
                },
                {
                    "name": "strawberry",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "N",
                    "type": "recommended"
                },
                {
                    "name": "1.1",
                    "type": "synonym"
                },
                {
                    "name": "16-178",
                    "type": "synonym"
                },
                {
                    "name": "16-55",
                    "type": "synonym"
                },
                {
                    "name": "Ax",
                    "type": "synonym"
                },
                {
                    "name": "CG3936",
                    "type": "synonym"
                },
                {
                    "name": "CT13012",
                    "type": "synonym"
                },
                {
                    "name": "Chp",
                    "type": "synonym"
                },
                {
                    "name": "Co",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3936",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3936",
                    "type": "synonym"
                },
                {
                    "name": "EG:140G11.1",
                    "type": "synonym"
                },
                {
                    "name": "EG:163A10.2",
                    "type": "synonym"
                },
                {
                    "name": "NECD",
                    "type": "synonym"
                },
                {
                    "name": "NICD",
                    "type": "synonym"
                },
                {
                    "name": "Nicd",
                    "type": "synonym"
                },
                {
                    "name": "N",
                    "type": "synonym"
                },
                {
                    "name": "RICN",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-1.12",
                    "type": "synonym"
                },
                {
                    "name": "clone 1.12",
                    "type": "synonym"
                },
                {
                    "name": "co",
                    "type": "synonym"
                },
                {
                    "name": "dNotch",
                    "type": "synonym"
                },
                {
                    "name": "fa",
                    "type": "synonym"
                },
                {
                    "name": "l(1)3Cb",
                    "type": "synonym"
                },
                {
                    "name": "l(1)Ax",
                    "type": "synonym"
                },
                {
                    "name": "l(1)N",
                    "type": "synonym"
                },
                {
                    "name": "n[fah]",
                    "type": "synonym"
                },
                {
                    "name": "nd",
                    "type": "synonym"
                },
                {
                    "name": "notch",
                    "type": "synonym"
                },
                {
                    "name": "shd",
                    "type": "synonym"
                },
                {
                    "name": "spl",
                    "type": "synonym"
                },
                {
                    "name": "swb",
                    "type": "synonym"
                }
            ],
            "record_id": "P07207-1",
            "evidence": [
                {
                    "id": "0070667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070667"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070667"
}