{
    "disease_id": "DOID:0112150",
    "recommended_name": {
        "id": "DOID:0112150",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112150",
        "name": "X-linked spondyloepimetaphyseal dysplasia",
        "description": "A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0112150",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112150",
            "name": "SEMDX",
            "description": ""
        },
        {
            "id": "DOID:0112150",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112150",
            "name": "SEMD X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010248",
            "name": "X-linked spondyloepimetaphyseal dysplasia",
            "description": "X-linked form of spondyloepimetaphyseal dysplasia."
        },
        {
            "id": "MONDO:0010248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010248",
            "name": "spondyloepimetaphyseal dysplasia, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010248",
            "name": "spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010248",
            "name": "SEMD X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010248",
            "name": "SEMDX",
            "description": ""
        },
        {
            "id": "MONDO:0010248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010248",
            "name": "spondylo-epimetaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010248",
            "name": "spondyloepimetaphyseal dysplasia X-linked",
            "description": ""
        },
        {
            "id": "MIM:300106",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300106",
            "name": "Spondyloepimetaphyseal dysplasia, X-linked",
            "description": "Spondyloepimetaphyseal dysplasia, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112150"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112150",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112150",
            "categories": []
        },
        {
            "id": "MONDO:0010248",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010248",
            "categories": []
        },
        {
            "id": "MIM:300106",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300106",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B7ZDB5-1",
            "uniprot_ac": "B7ZDB5",
            "uniprot_id": "B7ZDB5_DANRE",
            "refseq_ac": "NP_001001825",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Biglycan",
                    "type": "recommended"
                },
                {
                    "name": "biglycan b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bgnb",
                    "type": "recommended"
                },
                {
                    "name": "bgnb",
                    "type": "synonym"
                },
                {
                    "name": "bgn",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77123",
                    "type": "synonym"
                }
            ],
            "record_id": "B7ZDB5-1",
            "evidence": [
                {
                    "id": "0112150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28653-1",
            "uniprot_ac": "P28653",
            "uniprot_id": "PGS1_MOUSE",
            "refseq_ac": "NP_031568",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Biglycan",
                    "type": "recommended"
                },
                {
                    "name": "Bone/cartilage proteoglycan I",
                    "type": "synonym"
                },
                {
                    "name": "PG-S1",
                    "type": "synonym"
                },
                {
                    "name": "biglycan isoform 2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "bone/cartilage proteoglycan I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bgn",
                    "type": "recommended"
                },
                {
                    "name": "BG",
                    "type": "synonym"
                },
                {
                    "name": "Bgn",
                    "type": "synonym"
                },
                {
                    "name": "DSPG1",
                    "type": "synonym"
                },
                {
                    "name": "PG-S1",
                    "type": "synonym"
                },
                {
                    "name": "PGI",
                    "type": "synonym"
                },
                {
                    "name": "SLRR1A",
                    "type": "synonym"
                }
            ],
            "record_id": "P28653-1",
            "evidence": [
                {
                    "id": "0112150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21810-1",
            "uniprot_ac": "P21810",
            "uniprot_id": "PGS1_HUMAN",
            "refseq_ac": "NP_001702",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Biglycan",
                    "type": "recommended"
                },
                {
                    "name": "Bone/cartilage proteoglycan I",
                    "type": "synonym"
                },
                {
                    "name": "PG-S1",
                    "type": "synonym"
                },
                {
                    "name": "biglycan preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "bone/cartilage proteoglycan-I",
                    "type": "synonym"
                },
                {
                    "name": "dermatan sulphate proteoglycan I",
                    "type": "synonym"
                },
                {
                    "name": "small leucine-rich protein 1A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BGN",
                    "type": "recommended"
                },
                {
                    "name": "BGN",
                    "type": "synonym"
                },
                {
                    "name": "DSPG1",
                    "type": "synonym"
                },
                {
                    "name": "MRLS",
                    "type": "synonym"
                },
                {
                    "name": "PG-S1",
                    "type": "synonym"
                },
                {
                    "name": "PGI",
                    "type": "synonym"
                },
                {
                    "name": "SEMDX",
                    "type": "synonym"
                },
                {
                    "name": "SLRR1A",
                    "type": "synonym"
                }
            ],
            "record_id": "P21810-1",
            "evidence": [
                {
                    "id": "300106",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300106"
                },
                {
                    "id": "0112150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47853-1",
            "uniprot_ac": "P47853",
            "uniprot_id": "PGS1_RAT",
            "refseq_ac": "NP_058783",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Biglycan",
                    "type": "recommended"
                },
                {
                    "name": "Bone/cartilage proteoglycan I",
                    "type": "synonym"
                },
                {
                    "name": "PG-S1",
                    "type": "synonym"
                },
                {
                    "name": "Small proteoglycan I (biglycan), bone (BSPG1) (bone/cartilage proteclycan 1 precursor)",
                    "type": "synonym"
                },
                {
                    "name": "biglycan precursor",
                    "type": "synonym"
                },
                {
                    "name": "bone/cartilage proteoglycan I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bgn",
                    "type": "recommended"
                },
                {
                    "name": "BSPG1",
                    "type": "synonym"
                },
                {
                    "name": "Bgn",
                    "type": "synonym"
                }
            ],
            "record_id": "P47853-1",
            "evidence": [
                {
                    "id": "0112150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29400-1",
            "uniprot_ac": "P29400",
            "uniprot_id": "CO4A5_HUMAN",
            "refseq_ac": "NP_000486",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-5(IV) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen IV, alpha-5 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-5(IV) chain isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-5(IV) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen of basement membrane, alpha-5 chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IV, alpha 5",
                    "type": "synonym"
                },
                {
                    "name": "dA149D17.3",
                    "type": "synonym"
                },
                {
                    "name": "dA24A23.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL4A5",
                    "type": "recommended"
                },
                {
                    "name": "ASLN",
                    "type": "synonym"
                },
                {
                    "name": "ATS1",
                    "type": "synonym"
                },
                {
                    "name": "ATS",
                    "type": "synonym"
                },
                {
                    "name": "CA54",
                    "type": "synonym"
                },
                {
                    "name": "COL4A5",
                    "type": "synonym"
                }
            ],
            "record_id": "P29400-1",
            "evidence": [
                {
                    "id": "0112150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112150"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112150"
}