{
    "disease_id": "DOID:0060847",
    "recommended_name": {
        "id": "DOID:0060847",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060847",
        "name": "Leri-Weill dyschondrosteosis",
        "description": "An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain."
    },
    "synonyms": [
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "Leri-Weill dyschondrosteosis",
            "description": "Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity."
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "LWD",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "Leri Weill dyschondrosteosis",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "Leri-Weill dyschondrosteosis",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "Leri-Weill dyschondrosteosis, Pseudoautosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "Leri-Weill dyschondrostosis",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "Leri-Weill syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "Lri-Weill dyschondrosteosis",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "Lri-Weill syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "DCo",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "dyschondrosteosis",
            "description": ""
        },
        {
            "id": "MIM:127300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/127300",
            "name": "Leri-Weill dyschondrosteosis",
            "description": "Leri-Weill dyschondrosteosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060847"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060847",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060847",
            "categories": []
        },
        {
            "id": "MONDO:0007481",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "categories": []
        },
        {
            "id": "MIM:127300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/127300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BFC1-1",
            "uniprot_ac": "A0A8M2BFC1",
            "uniprot_id": "A0A8M2BFC1_DANRE",
            "refseq_ac": "XP_005167911",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short stature homeobox protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "short stature homeobox protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shox",
                    "type": "recommended"
                },
                {
                    "name": "shox",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-134k13.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123182",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BFC1-1",
            "evidence": [
                {
                    "id": "0060847",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060847"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70390-1",
            "uniprot_ac": "P70390",
            "uniprot_id": "SHOX2_MOUSE",
            "refseq_ac": "NP_001289286",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short stature homeobox protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein Og12X",
                    "type": "synonym"
                },
                {
                    "name": "OG-12",
                    "type": "synonym"
                },
                {
                    "name": "Paired family homeodomain protein Prx3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Og12X",
                    "type": "synonym"
                },
                {
                    "name": "paired family homeodomain protein Prx3",
                    "type": "synonym"
                },
                {
                    "name": "short stature homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "short stature homeobox protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "short stature homeobox protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shox2",
                    "type": "recommended"
                },
                {
                    "name": "6330543G17Rik",
                    "type": "synonym"
                },
                {
                    "name": "OG12",
                    "type": "synonym"
                },
                {
                    "name": "Og12x",
                    "type": "synonym"
                },
                {
                    "name": "Prx3",
                    "type": "synonym"
                },
                {
                    "name": "SHOT",
                    "type": "synonym"
                },
                {
                    "name": "Shox2",
                    "type": "synonym"
                }
            ],
            "record_id": "P70390-1",
            "evidence": [
                {
                    "id": "0060847",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060847"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15266-1",
            "uniprot_ac": "O15266",
            "uniprot_id": "SHOX_HUMAN",
            "refseq_ac": "NP_000442",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short stature homeobox protein",
                    "type": "recommended"
                },
                {
                    "name": "Pseudoautosomal homeobox-containing osteogenic protein",
                    "type": "synonym"
                },
                {
                    "name": "Short stature homeobox-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "growth control factor, X-linked",
                    "type": "synonym"
                },
                {
                    "name": "pseudoautosomal homeobox-containing osteogenic protein",
                    "type": "synonym"
                },
                {
                    "name": "short stature homeobox protein isoform SHOXa",
                    "type": "synonym"
                },
                {
                    "name": "short stature homeobox",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SHOX",
                    "type": "recommended"
                },
                {
                    "name": "GCFX",
                    "type": "synonym"
                },
                {
                    "name": "PHOG",
                    "type": "synonym"
                },
                {
                    "name": "SHOX1",
                    "type": "synonym"
                },
                {
                    "name": "SHOXY",
                    "type": "synonym"
                },
                {
                    "name": "SHOX",
                    "type": "synonym"
                },
                {
                    "name": "SS",
                    "type": "synonym"
                }
            ],
            "record_id": "O15266-1",
            "evidence": [
                {
                    "id": "127300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/127300"
                },
                {
                    "id": "0060847",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060847"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04116-1",
            "uniprot_ac": "Q04116",
            "uniprot_id": "YHP1_YEAST",
            "refseq_ac": "NP_010739",
            "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": "Homeobox protein YHP1",
                    "type": "recommended"
                },
                {
                    "name": "Yhp1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YHP1",
                    "type": "recommended"
                },
                {
                    "name": "D9461.36",
                    "type": "synonym"
                },
                {
                    "name": "YHP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04116-1",
            "evidence": [
                {
                    "id": "0060847",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060847"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35750-1",
            "uniprot_ac": "O35750",
            "uniprot_id": "SHOX2_RAT",
            "refseq_ac": "NP_037160",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short stature homeobox protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Paired family homeodomain protein Prx3",
                    "type": "synonym"
                },
                {
                    "name": "paired family homeodomain protein Prx3",
                    "type": "synonym"
                },
                {
                    "name": "short stature homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "short stature homeobox protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shox2",
                    "type": "recommended"
                },
                {
                    "name": "Prx3",
                    "type": "synonym"
                },
                {
                    "name": "Shox2",
                    "type": "synonym"
                }
            ],
            "record_id": "O35750-1",
            "evidence": [
                {
                    "id": "0060847",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060847"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DYR8-1",
            "uniprot_ac": "A8DYR8",
            "uniprot_id": "A8DYR8_DROME",
            "refseq_ac": "NP_001097140",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein unc-4",
                    "type": "recommended"
                },
                {
                    "name": "CG34367-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG13141",
                    "type": "recommended"
                },
                {
                    "name": "CG13141",
                    "type": "synonym"
                },
                {
                    "name": "CG34367",
                    "type": "synonym"
                },
                {
                    "name": "CG5369",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34367",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34367",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DYR8-1",
            "evidence": [
                {
                    "id": "0060847",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060847"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O76093-1",
            "uniprot_ac": "O76093",
            "uniprot_id": "FGF18_HUMAN",
            "refseq_ac": "NP_003853",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 18",
                    "type": "recommended"
                },
                {
                    "name": "FGF-18",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 18 precursor",
                    "type": "synonym"
                },
                {
                    "name": "zFGF5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGF18",
                    "type": "recommended"
                },
                {
                    "name": "FGF-18",
                    "type": "synonym"
                },
                {
                    "name": "FGF18",
                    "type": "synonym"
                },
                {
                    "name": "PRO856",
                    "type": "synonym"
                },
                {
                    "name": "ZFGF5",
                    "type": "synonym"
                }
            ],
            "record_id": "O76093-1",
            "evidence": [
                {
                    "id": "0060847",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060847"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60902-1",
            "uniprot_ac": "O60902",
            "uniprot_id": "SHOX2_HUMAN",
            "refseq_ac": "NP_001157150",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short stature homeobox protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein Og12X",
                    "type": "synonym"
                },
                {
                    "name": "Paired-related homeobox protein SHOT",
                    "type": "synonym"
                },
                {
                    "name": "SHOX homologous gene on chromosome 3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Og12X",
                    "type": "synonym"
                },
                {
                    "name": "paired-related homeobox protein SHOT",
                    "type": "synonym"
                },
                {
                    "name": "short stature homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "short stature homeobox protein 2 isoform c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SHOX2",
                    "type": "recommended"
                },
                {
                    "name": "OG12X",
                    "type": "synonym"
                },
                {
                    "name": "OG12",
                    "type": "synonym"
                },
                {
                    "name": "SHOT",
                    "type": "synonym"
                },
                {
                    "name": "SHOX2",
                    "type": "synonym"
                }
            ],
            "record_id": "O60902-1",
            "evidence": [
                {
                    "id": "0060847",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060847"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060847"
}