{
    "disease_id": "DOID:0111534",
    "recommended_name": {
        "id": "DOID:0111534",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111534",
        "name": "multicentric carpotarsal osteolysis syndrome",
        "description": "A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12."
    },
    "synonyms": [
        {
            "id": "DOID:0111534",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111534",
            "name": "idiopathic multicentric osteolysis with or without nephropathy",
            "description": ""
        },
        {
            "id": "DOID:0111534",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111534",
            "name": "MCTO",
            "description": ""
        },
        {
            "id": "DOID:0111534",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111534",
            "name": "autosomal dominant multicentric osteolysis",
            "description": ""
        },
        {
            "id": "DOID:0111534",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111534",
            "name": "multicentric osteolysis nephropathy",
            "description": ""
        },
        {
            "id": "DOID:0111534",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111534",
            "name": "multicentric carpo-tarsal osteolysis with or without nephropathy",
            "description": ""
        },
        {
            "id": "DOID:0111534",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111534",
            "name": "hereditary osteolysis of carpal bones with or without nephropathy",
            "description": ""
        },
        {
            "id": "MONDO:0008152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008152",
            "name": "multicentric carpo-tarsal osteolysis with or without nephropathy",
            "description": "Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities."
        },
        {
            "id": "MONDO:0008152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008152",
            "name": "idiopathic multicentric osteolysis with or without nephropathy",
            "description": ""
        },
        {
            "id": "MONDO:0008152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008152",
            "name": "multicentric carpo-tarsal osteolysis with or without nephropathy",
            "description": ""
        },
        {
            "id": "MONDO:0008152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008152",
            "name": "Carnevale canun Mendoza syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008152",
            "name": "MCTO",
            "description": ""
        },
        {
            "id": "MONDO:0008152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008152",
            "name": "multicentric carpotarsal osteolysis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008152",
            "name": "multicentric osteolysis nephropathy",
            "description": ""
        },
        {
            "id": "MIM:166300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/166300",
            "name": "Multicentric carpotarsal osteolysis syndrome",
            "description": "Multicentric carpotarsal osteolysis syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111534"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111534",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111534",
            "categories": []
        },
        {
            "id": "MONDO:0008152",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008152",
            "categories": []
        },
        {
            "id": "MIM:166300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/166300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q98UK5-1",
            "uniprot_ac": "Q98UK5",
            "uniprot_id": "MAFB_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor MafB",
                    "type": "recommended"
                },
                {
                    "name": "Maf-B",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor Val",
                    "type": "synonym"
                },
                {
                    "name": "Valentino",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mafba",
                    "type": "recommended"
                },
                {
                    "name": "mafb",
                    "type": "recommended"
                },
                {
                    "name": "kreisler",
                    "type": "synonym"
                },
                {
                    "name": "krml",
                    "type": "synonym"
                },
                {
                    "name": "kr",
                    "type": "synonym"
                },
                {
                    "name": "mafba",
                    "type": "synonym"
                },
                {
                    "name": "mafb",
                    "type": "synonym"
                },
                {
                    "name": "val",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc22d11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj82a09",
                    "type": "synonym"
                }
            ],
            "record_id": "Q98UK5-1",
            "evidence": [
                {
                    "id": "0111534",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111534"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54841-1",
            "uniprot_ac": "P54841",
            "uniprot_id": "MAFB_MOUSE",
            "refseq_ac": "NP_034788",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor MafB",
                    "type": "recommended"
                },
                {
                    "name": "Kreisler (maf-related) leucine zipper protein",
                    "type": "synonym"
                },
                {
                    "name": "Kreisler",
                    "type": "synonym"
                },
                {
                    "name": "Maf-B",
                    "type": "synonym"
                },
                {
                    "name": "Segmentation protein Kr",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor Maf-1",
                    "type": "synonym"
                },
                {
                    "name": "V-maf musculoaponeurotic fibrosarcoma oncogene homolog B",
                    "type": "synonym"
                },
                {
                    "name": "maf-B",
                    "type": "synonym"
                },
                {
                    "name": "segmentation protein Kr",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Maf-1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor MafB",
                    "type": "synonym"
                },
                {
                    "name": "v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mafb",
                    "type": "recommended"
                },
                {
                    "name": "Kreisler",
                    "type": "synonym"
                },
                {
                    "name": "Krml1",
                    "type": "synonym"
                },
                {
                    "name": "Krml",
                    "type": "synonym"
                },
                {
                    "name": "Maf1",
                    "type": "synonym"
                },
                {
                    "name": "Mafb",
                    "type": "synonym"
                },
                {
                    "name": "kr",
                    "type": "synonym"
                }
            ],
            "record_id": "P54841-1",
            "evidence": [
                {
                    "id": "0111534",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111534"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5Q3-1",
            "uniprot_ac": "Q9Y5Q3",
            "uniprot_id": "MAFB_HUMAN",
            "refseq_ac": "NP_005452",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor MafB",
                    "type": "recommended"
                },
                {
                    "name": "Kreisler maf-related leucine zipper homolog",
                    "type": "synonym"
                },
                {
                    "name": "MAFB/Kreisler basic region/leucine zipper transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "Maf-B",
                    "type": "synonym"
                },
                {
                    "name": "V-maf musculoaponeurotic fibrosarcoma oncogene homolog B",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor MafB",
                    "type": "synonym"
                },
                {
                    "name": "v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAFB",
                    "type": "recommended"
                },
                {
                    "name": "DURS3",
                    "type": "synonym"
                },
                {
                    "name": "KRML",
                    "type": "synonym"
                },
                {
                    "name": "MAFB",
                    "type": "synonym"
                },
                {
                    "name": "MCTO",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y5Q3-1",
            "evidence": [
                {
                    "id": "166300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/166300"
                },
                {
                    "id": "0111534",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111534"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54842-1",
            "uniprot_ac": "P54842",
            "uniprot_id": "MAFB_RAT",
            "refseq_ac": "NP_062189",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor MafB",
                    "type": "recommended"
                },
                {
                    "name": "Kreisler maf-related leucine zipper homolog (b-maf)",
                    "type": "synonym"
                },
                {
                    "name": "Maf-B",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor Maf-1",
                    "type": "synonym"
                },
                {
                    "name": "V-maf musculoaponeurotic fibrosarcoma oncogene homolog B",
                    "type": "synonym"
                },
                {
                    "name": "maf-B",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Maf-1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor MafB",
                    "type": "synonym"
                },
                {
                    "name": "v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B",
                    "type": "synonym"
                },
                {
                    "name": "v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mafb",
                    "type": "recommended"
                },
                {
                    "name": "Krml",
                    "type": "synonym"
                },
                {
                    "name": "Maf1",
                    "type": "synonym"
                },
                {
                    "name": "Mafb",
                    "type": "synonym"
                },
                {
                    "name": "b-maf",
                    "type": "synonym"
                }
            ],
            "record_id": "P54842-1",
            "evidence": [
                {
                    "id": "0111534",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111534"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PG80-1",
            "uniprot_ac": "M9PG80",
            "uniprot_id": "M9PG80_DROME",
            "refseq_ac": "NP_001260582",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10034-PC",
                    "type": "synonym"
                },
                {
                    "name": "Traffic jam, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Traffic-Jam",
                    "type": "synonym"
                },
                {
                    "name": "female sterile(2)eo2",
                    "type": "synonym"
                },
                {
                    "name": "tj-PC",
                    "type": "synonym"
                },
                {
                    "name": "traffic jam, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "traffic jam",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tj",
                    "type": "recommended"
                },
                {
                    "name": "CG10034",
                    "type": "synonym"
                },
                {
                    "name": "DM13",
                    "type": "synonym"
                },
                {
                    "name": "Dmaf",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10034",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10034",
                    "type": "synonym"
                },
                {
                    "name": "PL3",
                    "type": "synonym"
                },
                {
                    "name": "TJ",
                    "type": "synonym"
                },
                {
                    "name": "Tj",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)eo-B",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)eo2",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)eoPL3",
                    "type": "synonym"
                },
                {
                    "name": "maf-L",
                    "type": "synonym"
                },
                {
                    "name": "maf1",
                    "type": "synonym"
                },
                {
                    "name": "tj",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PG80-1",
            "evidence": [
                {
                    "id": "0111534",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111534"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4LH09-1",
            "uniprot_ac": "A0A0B4LH09",
            "uniprot_id": "A0A0B4LH09_DROME",
            "refseq_ac": "NP_001286639",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG9954-PB",
                    "type": "synonym"
                },
                {
                    "name": "Maf-S, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "maf-S, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "maf-S-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "maf-S",
                    "type": "recommended"
                },
                {
                    "name": "CG9954",
                    "type": "synonym"
                },
                {
                    "name": "DM19",
                    "type": "synonym"
                },
                {
                    "name": "DM31",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9954",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9954",
                    "type": "synonym"
                },
                {
                    "name": "MAF-S",
                    "type": "synonym"
                },
                {
                    "name": "Maf-S",
                    "type": "synonym"
                },
                {
                    "name": "MafS",
                    "type": "synonym"
                },
                {
                    "name": "Maf",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey173",
                    "type": "synonym"
                },
                {
                    "name": "maf-S",
                    "type": "synonym"
                },
                {
                    "name": "maf2",
                    "type": "synonym"
                },
                {
                    "name": "mafS",
                    "type": "synonym"
                },
                {
                    "name": "mafs",
                    "type": "synonym"
                },
                {
                    "name": "maf",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4LH09-1",
            "evidence": [
                {
                    "id": "0111534",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111534"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111534"
}