{
    "disease_id": "DOID:0080731",
    "recommended_name": {
        "id": "DOID:0080731",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080731",
        "name": "Ehlers-Danlos syndrome classic-like 1",
        "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0011670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011670",
            "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011670",
            "name": "EDS, classic-like type",
            "description": ""
        },
        {
            "id": "MONDO:0011670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011670",
            "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011670",
            "name": "Ehlers-Danlos syndrome, classic-like type",
            "description": ""
        },
        {
            "id": "MONDO:0011670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011670",
            "name": "Ehlers-Danlos syndrome, classic-like, 1",
            "description": ""
        },
        {
            "id": "MONDO:0011670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011670",
            "name": "EDS due to TNX deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011670",
            "name": "EDSCLL",
            "description": ""
        },
        {
            "id": "MONDO:0011670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011670",
            "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011670",
            "name": "TNX deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011670",
            "name": "clEDS",
            "description": ""
        },
        {
            "id": "MONDO:0011670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011670",
            "name": "classical-like EDS",
            "description": ""
        },
        {
            "id": "MONDO:0011670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011670",
            "name": "classical-like Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "MIM:606408",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606408",
            "name": "Ehlers-Danlos syndrome, classic-like, 1",
            "description": "Ehlers-Danlos syndrome, classic-like, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080731"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080731",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080731",
            "categories": []
        },
        {
            "id": "MONDO:0011670",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011670",
            "categories": []
        },
        {
            "id": "MIM:606408",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606408",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P891-1",
            "uniprot_ac": "A0A8M9P891",
            "uniprot_id": "A0A8M9P891_DANRE",
            "refseq_ac": "XP_021322558",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein tnxba isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein tnxba isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnxba",
                    "type": "recommended"
                },
                {
                    "name": "tnxba",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P891-1",
            "evidence": [
                {
                    "id": "0080731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A5F8MPH8-1",
            "uniprot_ac": "A0A5F8MPH8",
            "uniprot_id": "A0A5F8MPH8_MOUSE",
            "refseq_ac": "XP_006525249",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tenascin XB",
                    "type": "synonym"
                },
                {
                    "name": "tenascin-X isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnxb",
                    "type": "recommended"
                },
                {
                    "name": "Tn-mhc",
                    "type": "synonym"
                },
                {
                    "name": "Tnxb",
                    "type": "synonym"
                },
                {
                    "name": "Tnx",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A5F8MPH8-1",
            "evidence": [
                {
                    "id": "0080731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22105-3",
            "uniprot_ac": "P22105",
            "uniprot_id": "TENX_HUMAN",
            "refseq_ac": "NP_061978",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tenascin-X",
                    "type": "recommended"
                },
                {
                    "name": "Hexabrachion-like protein",
                    "type": "synonym"
                },
                {
                    "name": "TN-X",
                    "type": "synonym"
                },
                {
                    "name": "growth-inhibiting protein 45",
                    "type": "synonym"
                },
                {
                    "name": "hexabrachion-like protein",
                    "type": "synonym"
                },
                {
                    "name": "tenascin XB1",
                    "type": "synonym"
                },
                {
                    "name": "tenascin XB2",
                    "type": "synonym"
                },
                {
                    "name": "tenascin-X isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tenascin-X",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNXB",
                    "type": "recommended"
                },
                {
                    "name": "EDS3",
                    "type": "synonym"
                },
                {
                    "name": "EDSCLL1",
                    "type": "synonym"
                },
                {
                    "name": "EDSCLL",
                    "type": "synonym"
                },
                {
                    "name": "HXBL",
                    "type": "synonym"
                },
                {
                    "name": "TENX",
                    "type": "synonym"
                },
                {
                    "name": "TN-X",
                    "type": "synonym"
                },
                {
                    "name": "TNXB1",
                    "type": "synonym"
                },
                {
                    "name": "TNXB2",
                    "type": "synonym"
                },
                {
                    "name": "TNXBS",
                    "type": "synonym"
                },
                {
                    "name": "TNXB",
                    "type": "synonym"
                },
                {
                    "name": "TNX",
                    "type": "synonym"
                },
                {
                    "name": "VUR8",
                    "type": "synonym"
                },
                {
                    "name": "XBS",
                    "type": "synonym"
                },
                {
                    "name": "XB",
                    "type": "synonym"
                }
            ],
            "record_id": "P22105-3",
            "evidence": [
                {
                    "id": "606408",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606408"
                },
                {
                    "id": "0080731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AJ44-1",
            "uniprot_ac": "A0A8I6AJ44",
            "uniprot_id": "A0A8I6AJ44_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": "Tenascin XB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AABR07044388.2",
                    "type": "recommended"
                },
                {
                    "name": "Tnxb",
                    "type": "recommended"
                },
                {
                    "name": "AABR07044388.2",
                    "type": "synonym"
                },
                {
                    "name": "Tnxb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AJ44-1",
            "evidence": [
                {
                    "id": "0080731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080731"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080731"
}