{
    "disease_id": "DOID:0080726",
    "recommended_name": {
        "id": "DOID:0080726",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080726",
        "name": "Ehlers-Danlos syndrome classic type 2",
        "description": "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars."
    },
    "synonyms": [
        {
            "id": "MONDO:0019568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019568",
            "name": "Ehlers-Danlos syndrome, classic type, 2",
            "description": "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene."
        },
        {
            "id": "MONDO:0019568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019568",
            "name": "EDS II",
            "description": ""
        },
        {
            "id": "MONDO:0019568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019568",
            "name": "EDSCL2",
            "description": ""
        },
        {
            "id": "MONDO:0019568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019568",
            "name": "Ehlers-Danlos syndrome, classic type, 2",
            "description": ""
        },
        {
            "id": "MONDO:0019568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019568",
            "name": "Ehlers Danlos syndrome, mild Classic type",
            "description": ""
        },
        {
            "id": "MONDO:0019568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019568",
            "name": "Ehlers Danlos syndrome, mitis type",
            "description": ""
        },
        {
            "id": "MIM:130010",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/130010",
            "name": "Ehlers-Danlos syndrome, classic type, 2",
            "description": "Ehlers-Danlos syndrome, classic type, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080726"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080726",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080726",
            "categories": []
        },
        {
            "id": "MONDO:0019568",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019568",
            "categories": []
        },
        {
            "id": "MIM:130010",
            "database": "MIM",
            "url": "https://www.omim.org/entry/130010",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NTE7-1",
            "uniprot_ac": "A0A8M1NTE7",
            "uniprot_id": "A0A8M1NTE7_DANRE",
            "refseq_ac": "NP_001139254",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen, type V, alpha 2a precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type V, alpha 2a precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col5a2a",
                    "type": "recommended"
                },
                {
                    "name": "COL5A2",
                    "type": "synonym"
                },
                {
                    "name": "col5a2a",
                    "type": "synonym"
                },
                {
                    "name": "col5a2l",
                    "type": "synonym"
                },
                {
                    "name": "im:7038599",
                    "type": "synonym"
                },
                {
                    "name": "si:by143e18.1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-198b21.5",
                    "type": "synonym"
                },
                {
                    "name": "si:dz167c3.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa13f03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa98d01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj05e03",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NTE7-1",
            "evidence": [
                {
                    "id": "0080726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080726"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7FE47-1",
            "uniprot_ac": "E7FE47",
            "uniprot_id": "E7FE47_DANRE",
            "refseq_ac": "XP_001920005",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(V) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(V) chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col5a2b",
                    "type": "recommended"
                },
                {
                    "name": "col5a2b",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FE47-1",
            "evidence": [
                {
                    "id": "0080726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080726"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3U962-1",
            "uniprot_ac": "Q3U962",
            "uniprot_id": "CO5A2_MOUSE",
            "refseq_ac": "NP_031763",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(V) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen alpha-2(V) chain preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(V) chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type V, alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col5a2",
                    "type": "recommended"
                },
                {
                    "name": "1110014L14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Col5a2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U962-1",
            "evidence": [
                {
                    "id": "0080726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080726"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05997-1",
            "uniprot_ac": "P05997",
            "uniprot_id": "CO5A2_HUMAN",
            "refseq_ac": "NP_000384",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(V) chain",
                    "type": "recommended"
                },
                {
                    "name": "AB collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(V) chain preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(V) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, fetal membrane, A polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "type V preprocollagen alpha 2 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL5A2",
                    "type": "recommended"
                },
                {
                    "name": "COL5A2",
                    "type": "synonym"
                },
                {
                    "name": "EDSCL2",
                    "type": "synonym"
                },
                {
                    "name": "EDSC",
                    "type": "synonym"
                }
            ],
            "record_id": "P05997-1",
            "evidence": [
                {
                    "id": "130010",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/130010"
                },
                {
                    "id": "0080726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080726"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LY08-1",
            "uniprot_ac": "A0ABK0LY08",
            "uniprot_id": "A0ABK0LY08_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen type V alpha 2 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col5a2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LY08-1",
            "evidence": [
                {
                    "id": "0080726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080726"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080726"
}