{
    "disease_id": "DOID:0111849",
    "recommended_name": {
        "id": "DOID:0111849",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111849",
        "name": "osteogenesis imperfecta type 20",
        "description": "An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111849",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111849",
            "name": "OI20",
            "description": ""
        },
        {
            "id": "DOID:0111849",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111849",
            "name": "osteogenesis imperfecta type XX",
            "description": ""
        },
        {
            "id": "MONDO:0032846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032846",
            "name": "osteogenesis imperfecta, type 20",
            "description": ""
        },
        {
            "id": "MONDO:0032846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032846",
            "name": "OI20",
            "description": ""
        },
        {
            "id": "MIM:618644",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618644",
            "name": "Osteogenesis imperfecta 20",
            "description": "Osteogenesis imperfecta 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111849"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111849",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111849",
            "categories": []
        },
        {
            "id": "MONDO:0032846",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032846",
            "categories": []
        },
        {
            "id": "MIM:618644",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618644",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A1L243-1",
            "uniprot_ac": "A1L243",
            "uniprot_id": "MESD_DANRE",
            "refseq_ac": "NP_001074173",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "LRP chaperone MESD",
                    "type": "recommended"
                },
                {
                    "name": "LDLR chaperone MESD",
                    "type": "synonym"
                },
                {
                    "name": "LRP chaperone MESD isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "LRP chaperone MESD",
                    "type": "synonym"
                },
                {
                    "name": "Mesoderm development candidate 2",
                    "type": "synonym"
                },
                {
                    "name": "Mesoderm development protein",
                    "type": "synonym"
                },
                {
                    "name": "mesoderm development candidate 2",
                    "type": "synonym"
                },
                {
                    "name": "mesoderm development protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mesd",
                    "type": "recommended"
                },
                {
                    "name": "mesdc2",
                    "type": "synonym"
                },
                {
                    "name": "mesd",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158636",
                    "type": "synonym"
                }
            ],
            "record_id": "A1L243-1",
            "evidence": [
                {
                    "id": "0111849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ERE7-1",
            "uniprot_ac": "Q9ERE7",
            "uniprot_id": "MESD_MOUSE",
            "refseq_ac": "NP_075892",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "LRP chaperone MESD",
                    "type": "recommended"
                },
                {
                    "name": "LDLR chaperone MESD",
                    "type": "synonym"
                },
                {
                    "name": "LRP chaperone MESD isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "LRP chaperone MESD",
                    "type": "synonym"
                },
                {
                    "name": "Mesoderm development candidate 2",
                    "type": "synonym"
                },
                {
                    "name": "Mesoderm development protein",
                    "type": "synonym"
                },
                {
                    "name": "mesoderm development candidate 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mesd",
                    "type": "recommended"
                },
                {
                    "name": "2210015O11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mesdc2",
                    "type": "synonym"
                },
                {
                    "name": "Mesd",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0081",
                    "type": "synonym"
                },
                {
                    "name": "msd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ERE7-1",
            "evidence": [
                {
                    "id": "0111849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14696-1",
            "uniprot_ac": "Q14696",
            "uniprot_id": "MESD_HUMAN",
            "refseq_ac": "NP_055969",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "LRP chaperone MESD",
                    "type": "recommended"
                },
                {
                    "name": "LDLR chaperone MESD",
                    "type": "synonym"
                },
                {
                    "name": "LRP chaperone MESD precursor",
                    "type": "synonym"
                },
                {
                    "name": "Mesoderm development LRP chaperone MESD",
                    "type": "synonym"
                },
                {
                    "name": "Mesoderm development candidate 2",
                    "type": "synonym"
                },
                {
                    "name": "Mesoderm development protein",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-61",
                    "type": "synonym"
                },
                {
                    "name": "mesoderm development LRP chaperone MESD",
                    "type": "synonym"
                },
                {
                    "name": "mesoderm development candidate 2",
                    "type": "synonym"
                },
                {
                    "name": "mesoderm development protein",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-61",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MESD",
                    "type": "recommended"
                },
                {
                    "name": "BOCA",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0081",
                    "type": "synonym"
                },
                {
                    "name": "MESDC2",
                    "type": "synonym"
                },
                {
                    "name": "MESDM",
                    "type": "synonym"
                },
                {
                    "name": "MESD",
                    "type": "synonym"
                },
                {
                    "name": "OI20",
                    "type": "synonym"
                },
                {
                    "name": "PRO4369",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14696-1",
            "evidence": [
                {
                    "id": "618644",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618644"
                },
                {
                    "id": "0111849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U2R7-1",
            "uniprot_ac": "Q5U2R7",
            "uniprot_id": "MESD_RAT",
            "refseq_ac": "NP_001008346",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "LRP chaperone MESD",
                    "type": "recommended"
                },
                {
                    "name": "LDLR chaperone MESD",
                    "type": "synonym"
                },
                {
                    "name": "LRP chaperone MESD precursor",
                    "type": "synonym"
                },
                {
                    "name": "LRP chaperone MESD",
                    "type": "synonym"
                },
                {
                    "name": "Mesoderm development candidate 2",
                    "type": "synonym"
                },
                {
                    "name": "Mesoderm development protein",
                    "type": "synonym"
                },
                {
                    "name": "mesoderm development candiate 2",
                    "type": "synonym"
                },
                {
                    "name": "mesoderm development candidate 2",
                    "type": "synonym"
                },
                {
                    "name": "mesoderm development protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mesd",
                    "type": "recommended"
                },
                {
                    "name": "Mesdc2",
                    "type": "synonym"
                },
                {
                    "name": "Mesd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U2R7-1",
            "evidence": [
                {
                    "id": "0111849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8T9B6-1",
            "uniprot_ac": "Q8T9B6",
            "uniprot_id": "MESD_DROME",
            "refseq_ac": "NP_724578",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "LDLR chaperone boca",
                    "type": "recommended"
                },
                {
                    "name": "CG30498-PA",
                    "type": "synonym"
                },
                {
                    "name": "boca-PA",
                    "type": "synonym"
                },
                {
                    "name": "boca",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)43Ea",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "boca",
                    "type": "recommended"
                },
                {
                    "name": "Boca",
                    "type": "synonym"
                },
                {
                    "name": "CG1364",
                    "type": "synonym"
                },
                {
                    "name": "CG30498",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30498",
                    "type": "synonym"
                },
                {
                    "name": "boca",
                    "type": "synonym"
                },
                {
                    "name": "dmBoca",
                    "type": "synonym"
                },
                {
                    "name": "l(2)43Ea",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8T9B6-1",
            "evidence": [
                {
                    "id": "0111849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111849"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111849"
}