{
    "disease_id": "DOID:0080737",
    "recommended_name": {
        "id": "DOID:0080737",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080737",
        "name": "Ehlers-Danlos syndrome musculocontractural type 2",
        "description": "An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0014236",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014236",
            "name": "Ehlers-Danlos syndrome, musculocontractural type 2",
            "description": "Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene."
        },
        {
            "id": "MONDO:0014236",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014236",
            "name": "DSE Ehlers-Danlos syndrome, musculocontractural type",
            "description": ""
        },
        {
            "id": "MONDO:0014236",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014236",
            "name": "Ehlers-Danlos syndrome, musculocontractural type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014236",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014236",
            "name": "Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE",
            "description": ""
        },
        {
            "id": "MONDO:0014236",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014236",
            "name": "EDSMC2",
            "description": ""
        },
        {
            "id": "MIM:615539",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615539",
            "name": "Ehlers-Danlos syndrome, musculocontractural type 2",
            "description": "Ehlers-Danlos syndrome, musculocontractural type 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080737"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080737",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080737",
            "categories": []
        },
        {
            "id": "MONDO:0014236",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014236",
            "categories": []
        },
        {
            "id": "MIM:615539",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615539",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BBN5-1",
            "uniprot_ac": "A0A8M2BBN5",
            "uniprot_id": "A0A8M2BBN5_DANRE",
            "refseq_ac": "NP_001025396",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dermatan-sulfate epimerase isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "dermatan-sulfate epimerase precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dse",
                    "type": "recommended"
                },
                {
                    "name": "dse",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-121j17.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BBN5-1",
            "evidence": [
                {
                    "id": "0080737",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080737"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BLI4-1",
            "uniprot_ac": "Q8BLI4",
            "uniprot_id": "DSE_MOUSE",
            "refseq_ac": "NP_766096",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dermatan-sulfate epimerase",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.19",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitin-glucuronate 5-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "DS epimerase",
                    "type": "synonym"
                },
                {
                    "name": "SART-2",
                    "type": "synonym"
                },
                {
                    "name": "Squamous cell carcinoma antigen recognized by T-cells 2",
                    "type": "synonym"
                },
                {
                    "name": "chondroitin-glucuronate 5-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "dermatan-sulfate epimerase precursor",
                    "type": "synonym"
                },
                {
                    "name": "squamous cell carcinoma antigen recognized by T cells 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dse",
                    "type": "recommended"
                },
                {
                    "name": "6030499O08",
                    "type": "synonym"
                },
                {
                    "name": "B130024B19Rik",
                    "type": "synonym"
                },
                {
                    "name": "DS-epi1",
                    "type": "synonym"
                },
                {
                    "name": "Dse",
                    "type": "synonym"
                },
                {
                    "name": "Sart2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BLI4-1",
            "evidence": [
                {
                    "id": "0080737",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080737"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UL01-1",
            "uniprot_ac": "Q9UL01",
            "uniprot_id": "DSE_HUMAN",
            "refseq_ac": "NP_001074445",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dermatan-sulfate epimerase",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.19",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitin-glucuronate 5-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "DS epimerase",
                    "type": "synonym"
                },
                {
                    "name": "SART-2",
                    "type": "synonym"
                },
                {
                    "name": "Squamous cell carcinoma antigen recognized by T-cells 2",
                    "type": "synonym"
                },
                {
                    "name": "chondroitin-glucuronate 5-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "dermatan-sulfate epimerase isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "squamous cell carcinoma antigen recognized by T-cells 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DSE",
                    "type": "recommended"
                },
                {
                    "name": "DS-epi1",
                    "type": "synonym"
                },
                {
                    "name": "DSEPI",
                    "type": "synonym"
                },
                {
                    "name": "DSEP",
                    "type": "synonym"
                },
                {
                    "name": "DSE",
                    "type": "synonym"
                },
                {
                    "name": "EDSMC2",
                    "type": "synonym"
                },
                {
                    "name": "SART-2",
                    "type": "synonym"
                },
                {
                    "name": "SART2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UL01-1",
            "evidence": [
                {
                    "id": "0014236",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014236"
                },
                {
                    "id": "615539",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615539"
                },
                {
                    "id": "0080737",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080737"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JU02-1",
            "uniprot_ac": "A0A0G2JU02",
            "uniprot_id": "A0A0G2JU02_RAT",
            "refseq_ac": "XP_008771122",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dermatan sulfate epimerase",
                    "type": "synonym"
                },
                {
                    "name": "dermatan-sulfate epimerase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dse",
                    "type": "recommended"
                },
                {
                    "name": "Dse",
                    "type": "synonym"
                },
                {
                    "name": "Sart2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JU02-1",
            "evidence": [
                {
                    "id": "0080737",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080737"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080737"
}