{
    "disease_id": "DOID:0080664",
    "recommended_name": {
        "id": "DOID:0080664",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080664",
        "name": "diaphyseal medullary stenosis with malignant fibrous histiocytoma",
        "description": "An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21."
    },
    "synonyms": [
        {
            "id": "DOID:0080664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080664",
            "name": "Hardcastle syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080664",
            "name": "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080664",
            "name": "bone dysplasia-medullary fibrosarcoma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "diaphyseal medullary stenosis-bone malignancy syndrome",
            "description": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)."
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "DMS-MFH",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "Hardcastle syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "Hardcastle's syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "bone dysplasia-medullary fibrosarcoma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "diaphyseal medullary stenosis-bone malignancy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "BDMF",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "DMSMFH",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "diaphyseal medullary stenosis with malignant fibrous histiocytoma",
            "description": ""
        },
        {
            "id": "MIM:112250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/112250",
            "name": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma",
            "description": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080664"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080664",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080664",
            "categories": []
        },
        {
            "id": "MONDO:0007205",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "categories": []
        },
        {
            "id": "MIM:112250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/112250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZV22-1",
            "uniprot_ac": "Q7ZV22",
            "uniprot_id": "MTAP_DANRE",
            "refseq_ac": "NP_956848",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "S-methyl-5'-thioadenosine phosphorylase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.28",
                    "type": "synonym"
                },
                {
                    "name": "5'-methylthioadenosine phosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "MTA phosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "MTAPase",
                    "type": "synonym"
                },
                {
                    "name": "MTAP",
                    "type": "synonym"
                },
                {
                    "name": "S-methyl-5'-thioadenosine phosphorylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mtap",
                    "type": "recommended"
                },
                {
                    "name": "mtap",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66012",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZV22-1",
            "evidence": [
                {
                    "id": "0080664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080664"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQ65-1",
            "uniprot_ac": "Q9CQ65",
            "uniprot_id": "MTAP_MOUSE",
            "refseq_ac": "NP_077753",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "S-methyl-5'-thioadenosine phosphorylase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.28",
                    "type": "synonym"
                },
                {
                    "name": "5'-methylthioadenosine phosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "MTA phosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "MTAPase",
                    "type": "synonym"
                },
                {
                    "name": "MTAP",
                    "type": "synonym"
                },
                {
                    "name": "S-methyl-5'-thioadenosine phosphorylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtap",
                    "type": "recommended"
                },
                {
                    "name": "1300019I21Rik",
                    "type": "synonym"
                },
                {
                    "name": "MSAP",
                    "type": "synonym"
                },
                {
                    "name": "Mtap",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQ65-1",
            "evidence": [
                {
                    "id": "0080664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080664"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13126-1",
            "uniprot_ac": "Q13126",
            "uniprot_id": "MTAP_HUMAN",
            "refseq_ac": "NP_002442",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "S-methyl-5'-thioadenosine phosphorylase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.28",
                    "type": "synonym"
                },
                {
                    "name": "5'-methylthioadenosine phosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "MTA phosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "MTAPase",
                    "type": "synonym"
                },
                {
                    "name": "MTAP",
                    "type": "synonym"
                },
                {
                    "name": "MeSAdo phosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "S-methyl-5'-thioadenosine phosphorylase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "S-methyl-5'-thioadenosine phosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis luminal protein 249",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MTAP",
                    "type": "recommended"
                },
                {
                    "name": "BDMF",
                    "type": "synonym"
                },
                {
                    "name": "DMSFH",
                    "type": "synonym"
                },
                {
                    "name": "DMSMFH",
                    "type": "synonym"
                },
                {
                    "name": "HEL-249",
                    "type": "synonym"
                },
                {
                    "name": "LGMBF",
                    "type": "synonym"
                },
                {
                    "name": "MSAP",
                    "type": "synonym"
                },
                {
                    "name": "MTAP",
                    "type": "synonym"
                },
                {
                    "name": "c86fus",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13126-1",
            "evidence": [
                {
                    "id": "112250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/112250"
                },
                {
                    "id": "0080664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080664"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07938-1",
            "uniprot_ac": "Q07938",
            "uniprot_id": "MTAP_YEAST",
            "refseq_ac": "NP_013117",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "S-methyl-5'-thioadenosine phosphorylase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.28",
                    "type": "synonym"
                },
                {
                    "name": "5'-methylthioadenosine phosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "MTA phosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "MTAPase",
                    "type": "synonym"
                },
                {
                    "name": "MTAP",
                    "type": "synonym"
                },
                {
                    "name": "Multicopy enhancer of UAS2",
                    "type": "synonym"
                },
                {
                    "name": "S-methyl-5-thioadenosine phosphorylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MEU1",
                    "type": "recommended"
                },
                {
                    "name": "L1595",
                    "type": "synonym"
                },
                {
                    "name": "MEU1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07938-1",
            "evidence": [
                {
                    "id": "0080664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080664"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K583-1",
            "uniprot_ac": "A0A0G2K583",
            "uniprot_id": "A0A0G2K583_RAT",
            "refseq_ac": "NP_001380978",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "S-methyl-5'-thioadenosine phosphorylase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.28",
                    "type": "synonym"
                },
                {
                    "name": "5'-methylthioadenosine phosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "MTA phosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "MTAPase",
                    "type": "synonym"
                },
                {
                    "name": "MTAP",
                    "type": "synonym"
                },
                {
                    "name": "S-methyl-5'-thioadenosine phosphorylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtap",
                    "type": "recommended"
                },
                {
                    "name": "Cc1-6",
                    "type": "synonym"
                },
                {
                    "name": "MTAP",
                    "type": "synonym"
                },
                {
                    "name": "Mtap",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K583-1",
            "evidence": [
                {
                    "id": "0080664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080664"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V813-1",
            "uniprot_ac": "Q9V813",
            "uniprot_id": "MTAP_DROME",
            "refseq_ac": "NP_001286525",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "S-methyl-5'-thioadenosine phosphorylase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.28",
                    "type": "synonym"
                },
                {
                    "name": "5'-methylthioadenosine phosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "CG4802-PC",
                    "type": "synonym"
                },
                {
                    "name": "MTA phosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "MTAPase",
                    "type": "synonym"
                },
                {
                    "name": "MTAP",
                    "type": "synonym"
                },
                {
                    "name": "Mtap-PC",
                    "type": "synonym"
                },
                {
                    "name": "methylthioadenosine phosphorylase ortholog",
                    "type": "synonym"
                },
                {
                    "name": "methylthioadenosine phosphorylase, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtap",
                    "type": "recommended"
                },
                {
                    "name": "CG4802",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4802",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4802",
                    "type": "synonym"
                },
                {
                    "name": "MTAP",
                    "type": "synonym"
                },
                {
                    "name": "Mtap",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V813-1",
            "evidence": [
                {
                    "id": "0080664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080664"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IMU4-1",
            "uniprot_ac": "Q8IMU4",
            "uniprot_id": "PNPH_DROME",
            "refseq_ac": "NP_733068",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Purine nucleoside phosphorylase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.1",
                    "type": "synonym"
                },
                {
                    "name": "CG31115-PB",
                    "type": "synonym"
                },
                {
                    "name": "PNP",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG31115",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31115",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IMU4-1",
            "evidence": [
                {
                    "id": "0080664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080664"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080664"
}