{
    "disease_id": "DOID:0080732",
    "recommended_name": {
        "id": "DOID:0080732",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080732",
        "name": "Ehlers-Danlos syndrome classic-like 2",
        "description": "An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations."
    },
    "synonyms": [
        {
            "id": "MONDO:0054813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054813",
            "name": "Ehlers-Danlos syndrome, classic-like, 2",
            "description": ""
        },
        {
            "id": "MONDO:0054813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054813",
            "name": "EDSCLL2",
            "description": ""
        },
        {
            "id": "MONDO:0054813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054813",
            "name": "Ehlers-Danlos syndrome, classic-like, 2",
            "description": ""
        },
        {
            "id": "MIM:618000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618000",
            "name": "Ehlers-Danlos syndrome, classic-like, 2",
            "description": "Ehlers-Danlos syndrome, classic-like, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080732"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080732",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080732",
            "categories": []
        },
        {
            "id": "MONDO:0054813",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054813",
            "categories": []
        },
        {
            "id": "MIM:618000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1RAC0-1",
            "uniprot_ac": "F1RAC0",
            "uniprot_id": "F1RAC0_DANRE",
            "refseq_ac": "XP_696022",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein aebp1b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein aebp1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "aebp1b",
                    "type": "recommended"
                },
                {
                    "name": "aebp1b",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RAC0-1",
            "evidence": [
                {
                    "id": "0080732",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080732"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7F829-1",
            "uniprot_ac": "E7F829",
            "uniprot_id": "E7F829_DANRE",
            "refseq_ac": "NP_001311338",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adipocyte enhancer-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "AE binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Aortic carboxypeptidase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "adipocyte enhancer-binding protein 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "aebp1a",
                    "type": "recommended"
                },
                {
                    "name": "aebp1a",
                    "type": "synonym"
                },
                {
                    "name": "aebp1",
                    "type": "synonym"
                },
                {
                    "name": "fc06f06",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-24n17.4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc06f06",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F829-1",
            "evidence": [
                {
                    "id": "0080732",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080732"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q640N1-1",
            "uniprot_ac": "Q640N1",
            "uniprot_id": "AEBP1_MOUSE",
            "refseq_ac": "NP_001278786",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adipocyte enhancer-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "AE-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Aortic carboxypeptidase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "adipocyte enhancer-binding protein 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "adipocyte enhancer-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "aortic carboxypeptidase-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aebp1",
                    "type": "recommended"
                },
                {
                    "name": "ACLP",
                    "type": "synonym"
                },
                {
                    "name": "Aclp",
                    "type": "synonym"
                },
                {
                    "name": "Aebp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q640N1-1",
            "evidence": [
                {
                    "id": "0080732",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080732"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IUX7-1",
            "uniprot_ac": "Q8IUX7",
            "uniprot_id": "AEBP1_HUMAN",
            "refseq_ac": "NP_001120",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adipocyte enhancer-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "AE-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Aortic carboxypeptidase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "adipocyte enhancer-binding protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "adipocyte enhancer-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "aortic carboxypeptidase-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AEBP1",
                    "type": "recommended"
                },
                {
                    "name": "ACLP",
                    "type": "synonym"
                },
                {
                    "name": "AEBP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IUX7-1",
            "evidence": [
                {
                    "id": "618000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618000"
                },
                {
                    "id": "0080732",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080732"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2RUV9-1",
            "uniprot_ac": "A2RUV9",
            "uniprot_id": "AEBP1_RAT",
            "refseq_ac": "NP_001094440",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adipocyte enhancer-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "AE-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Aortic carboxypeptidase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "adipocyte enhancer-binding protein 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "adipocyte enhancer-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "aortic carboxypeptidase-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aebp1",
                    "type": "recommended"
                },
                {
                    "name": "Aclp",
                    "type": "synonym"
                },
                {
                    "name": "Aebp1",
                    "type": "synonym"
                }
            ],
            "record_id": "A2RUV9-1",
            "evidence": [
                {
                    "id": "0080732",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080732"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080732"
}