{
    "disease_id": "DOID:0111512",
    "recommended_name": {
        "id": "DOID:0111512",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111512",
        "name": "metachondromatosis",
        "description": "An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111512",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111512",
            "name": "METCDS",
            "description": ""
        },
        {
            "id": "MONDO:0007979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007979",
            "name": "metachondromatosis",
            "description": "Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions."
        },
        {
            "id": "MONDO:0007979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007979",
            "name": "metachondromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0007979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007979",
            "name": "METACHONDROMATOSIS",
            "description": ""
        },
        {
            "id": "MONDO:0007979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007979",
            "name": "METCDS",
            "description": ""
        },
        {
            "id": "MIM:156250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/156250",
            "name": "Metachondromatosis",
            "description": "Metachondromatosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111512"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111512",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111512",
            "categories": []
        },
        {
            "id": "MONDO:0007979",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007979",
            "categories": []
        },
        {
            "id": "MIM:156250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/156250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P35235-2",
            "uniprot_ac": "P35235",
            "uniprot_id": "PTN11_MOUSE",
            "refseq_ac": "NP_001103462",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein phosphatase non-receptor type 11",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "Protein-tyrosine phosphatase SYP",
                    "type": "synonym"
                },
                {
                    "name": "SH-PTP2",
                    "type": "synonym"
                },
                {
                    "name": "SH2 domain-containing protein tyrosine phosphatase-2",
                    "type": "synonym"
                },
                {
                    "name": "SHP-2",
                    "type": "synonym"
                },
                {
                    "name": "Shp2",
                    "type": "synonym"
                },
                {
                    "name": "protein-tyrosine phosphatase SYP",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein phosphatase non-receptor type 11 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein phosphatase non-receptor type 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptpn11",
                    "type": "recommended"
                },
                {
                    "name": "2700084A17Rik",
                    "type": "synonym"
                },
                {
                    "name": "PTP1D",
                    "type": "synonym"
                },
                {
                    "name": "PTP2C",
                    "type": "synonym"
                },
                {
                    "name": "Ptpn11",
                    "type": "synonym"
                },
                {
                    "name": "SAP-2",
                    "type": "synonym"
                },
                {
                    "name": "SH-PTP2",
                    "type": "synonym"
                },
                {
                    "name": "SH-PTP3",
                    "type": "synonym"
                },
                {
                    "name": "SHP-2",
                    "type": "synonym"
                },
                {
                    "name": "Shp2",
                    "type": "synonym"
                },
                {
                    "name": "Syp",
                    "type": "synonym"
                }
            ],
            "record_id": "P35235-2",
            "evidence": [
                {
                    "id": "0111512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06124-2",
            "uniprot_ac": "Q06124",
            "uniprot_id": "PTN11_HUMAN",
            "refseq_ac": "NP_001317366",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein phosphatase non-receptor type 11",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "PTP-1D",
                    "type": "synonym"
                },
                {
                    "name": "PTP-2C",
                    "type": "synonym"
                },
                {
                    "name": "Protein-tyrosine phosphatase 1D",
                    "type": "synonym"
                },
                {
                    "name": "Protein-tyrosine phosphatase 2C",
                    "type": "synonym"
                },
                {
                    "name": "SH-PTP2",
                    "type": "synonym"
                },
                {
                    "name": "SH-PTP3",
                    "type": "synonym"
                },
                {
                    "name": "SH2 domain-containing protein tyrosine phosphatase 2",
                    "type": "synonym"
                },
                {
                    "name": "SHP-2",
                    "type": "synonym"
                },
                {
                    "name": "Shp2",
                    "type": "synonym"
                },
                {
                    "name": "protein-tyrosine phosphatase 1D",
                    "type": "synonym"
                },
                {
                    "name": "protein-tyrosine phosphatase 2C",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein phosphatase non-receptor type 11 isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTPN11",
                    "type": "recommended"
                },
                {
                    "name": "BPTP3",
                    "type": "synonym"
                },
                {
                    "name": "CFC",
                    "type": "synonym"
                },
                {
                    "name": "JMML",
                    "type": "synonym"
                },
                {
                    "name": "METCDS",
                    "type": "synonym"
                },
                {
                    "name": "NS1",
                    "type": "synonym"
                },
                {
                    "name": "PTP-1D",
                    "type": "synonym"
                },
                {
                    "name": "PTP2C",
                    "type": "synonym"
                },
                {
                    "name": "PTPN11",
                    "type": "synonym"
                },
                {
                    "name": "SH-PTP2",
                    "type": "synonym"
                },
                {
                    "name": "SH-PTP3",
                    "type": "synonym"
                },
                {
                    "name": "SHP2",
                    "type": "synonym"
                },
                {
                    "name": "SHPTP2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06124-2",
            "evidence": [
                {
                    "id": "156250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/156250"
                },
                {
                    "id": "0111512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41499-2",
            "uniprot_ac": "P41499",
            "uniprot_id": "PTN11_RAT",
            "refseq_ac": "NP_001171064",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein phosphatase non-receptor type 11",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "PTP-1D",
                    "type": "synonym"
                },
                {
                    "name": "Protein-tyrosine phosphatase 1D",
                    "type": "synonym"
                },
                {
                    "name": "Protein-tyrosine phosphatase SYP",
                    "type": "synonym"
                },
                {
                    "name": "SH-PTP2 protein tyrosine phosphatase, non-receptor type 11",
                    "type": "synonym"
                },
                {
                    "name": "SH-PTP2",
                    "type": "synonym"
                },
                {
                    "name": "SHP-2",
                    "type": "synonym"
                },
                {
                    "name": "Shp2",
                    "type": "synonym"
                },
                {
                    "name": "encodes catalytic domain",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine phosphatase SH-PTP2",
                    "type": "synonym"
                },
                {
                    "name": "protein-tyrosine phosphatase 1D",
                    "type": "synonym"
                },
                {
                    "name": "protein-tyrosine phosphatase SYP",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein phosphatase non-receptor type 11 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein phosphatase non-receptor type 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptpn11",
                    "type": "recommended"
                },
                {
                    "name": "Ptpn11",
                    "type": "synonym"
                },
                {
                    "name": "Shp2",
                    "type": "synonym"
                }
            ],
            "record_id": "P41499-2",
            "evidence": [
                {
                    "id": "0111512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29349-4",
            "uniprot_ac": "P29349",
            "uniprot_id": "CSW_DROME",
            "refseq_ac": "NP_477130",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein phosphatase corkscrew",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "CG3954-PA",
                    "type": "synonym"
                },
                {
                    "name": "corkscrew, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "corkscrew",
                    "type": "synonym"
                },
                {
                    "name": "csw-PA",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of sevenless 1A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "csw",
                    "type": "recommended"
                },
                {
                    "name": "19-106",
                    "type": "synonym"
                },
                {
                    "name": "CG3954",
                    "type": "synonym"
                },
                {
                    "name": "CSW",
                    "type": "synonym"
                },
                {
                    "name": "Csw/Shp2",
                    "type": "synonym"
                },
                {
                    "name": "Csw",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3954",
                    "type": "synonym"
                },
                {
                    "name": "E(sev)1A",
                    "type": "synonym"
                },
                {
                    "name": "EG:BACN25G24.2",
                    "type": "synonym"
                },
                {
                    "name": "SHP-2",
                    "type": "synonym"
                },
                {
                    "name": "Shp-2",
                    "type": "synonym"
                },
                {
                    "name": "Shp2/csw",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.207",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.209",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.219",
                    "type": "synonym"
                },
                {
                    "name": "csw/SHP-2",
                    "type": "synonym"
                },
                {
                    "name": "csw",
                    "type": "synonym"
                },
                {
                    "name": "l(1)2Db",
                    "type": "synonym"
                },
                {
                    "name": "l(1)2Dd",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0170",
                    "type": "synonym"
                },
                {
                    "name": "l(1)GA114",
                    "type": "synonym"
                },
                {
                    "name": "l(1)csw",
                    "type": "synonym"
                }
            ],
            "record_id": "P29349-4",
            "evidence": [
                {
                    "id": "0111512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P84090-1",
            "uniprot_ac": "P84090",
            "uniprot_id": "ERH_HUMAN",
            "refseq_ac": "NP_004441",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enhancer of rudimentary homolog",
                    "type": "recommended"
                },
                {
                    "name": "enhancer of rudimentary homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERH",
                    "type": "recommended"
                },
                {
                    "name": "DROER",
                    "type": "synonym"
                },
                {
                    "name": "ERH",
                    "type": "synonym"
                }
            ],
            "record_id": "P84090-1",
            "evidence": [
                {
                    "id": "0111512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111512"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111512"
}