{
    "disease_id": "DOID:0080733",
    "recommended_name": {
        "id": "DOID:0080733",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080733",
        "name": "Ehlers-Danlos syndrome dermatosparaxis type",
        "description": "An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35."
    },
    "synonyms": [
        {
            "id": "MONDO:0009161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009161",
            "name": "Ehlers-Danlos syndrome, dermatosparaxis type",
            "description": "A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility."
        },
        {
            "id": "MONDO:0009161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009161",
            "name": "EDS VIIC",
            "description": ""
        },
        {
            "id": "MONDO:0009161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009161",
            "name": "Ehlers-Danlos syndrome type 7C",
            "description": ""
        },
        {
            "id": "MONDO:0009161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009161",
            "name": "Ehlers-Danlos syndrome, dermatosparaxis type",
            "description": ""
        },
        {
            "id": "MONDO:0009161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009161",
            "name": "EDS7C",
            "description": ""
        },
        {
            "id": "MONDO:0009161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009161",
            "name": "EDSDERMS",
            "description": ""
        },
        {
            "id": "MONDO:0009161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009161",
            "name": "Ehlers-Danlos syndrome type 7C (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0009161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009161",
            "name": "dEDS",
            "description": ""
        },
        {
            "id": "MONDO:0009161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009161",
            "name": "dermatosparaxis EDS",
            "description": ""
        },
        {
            "id": "MONDO:0009161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009161",
            "name": "dermatosparaxis Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "MIM:225410",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/225410",
            "name": "Ehlers-Danlos syndrome, dermatosparaxis type",
            "description": "Ehlers-Danlos syndrome, dermatosparaxis type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080733"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080733",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080733",
            "categories": []
        },
        {
            "id": "MONDO:0009161",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009161",
            "categories": []
        },
        {
            "id": "MIM:225410",
            "database": "MIM",
            "url": "https://www.omim.org/entry/225410",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7J2-1",
            "uniprot_ac": "A0ACD6B7J2",
            "uniprot_id": "A0ACD6B7J2_DANRE",
            "refseq_ac": "XP_700384",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "adamts2a",
                    "type": "recommended"
                },
                {
                    "name": "adamts2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7J2-1",
            "evidence": [
                {
                    "id": "0080733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C9W3-1",
            "uniprot_ac": "Q8C9W3",
            "uniprot_id": "ATS2_MOUSE",
            "refseq_ac": "NP_783574",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.14",
                    "type": "synonym"
                },
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "ADAM-TS 2",
                    "type": "synonym"
                },
                {
                    "name": "ADAM-TS2",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTS-2",
                    "type": "synonym"
                },
                {
                    "name": "PC I-NP",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen I N-proteinase",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen I/II amino propeptide-processing enzyme",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen N-endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin and metalloproteinase with thrombospondin motifs 2",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin and metalloproteinase with thrombospondin repeats",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 2",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2",
                    "type": "synonym"
                },
                {
                    "name": "pNPI",
                    "type": "synonym"
                },
                {
                    "name": "procollagen I/II amino propeptide-processing enzyme",
                    "type": "synonym"
                },
                {
                    "name": "procollagen N-endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "procollagen N-proteinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adamts2",
                    "type": "recommended"
                },
                {
                    "name": "ADAM-TS 2",
                    "type": "synonym"
                },
                {
                    "name": "ADAM-TS2",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTS-2",
                    "type": "synonym"
                },
                {
                    "name": "Adamts2",
                    "type": "synonym"
                },
                {
                    "name": "PC I-NP",
                    "type": "synonym"
                },
                {
                    "name": "PCINP",
                    "type": "synonym"
                },
                {
                    "name": "pNPI",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C9W3-1",
            "evidence": [
                {
                    "id": "0080733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95450-1",
            "uniprot_ac": "O95450",
            "uniprot_id": "ATS2_HUMAN",
            "refseq_ac": "NP_055059",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.14",
                    "type": "synonym"
                },
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 2 isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "ADAM-TS 2",
                    "type": "synonym"
                },
                {
                    "name": "ADAM-TS2",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTS-2",
                    "type": "synonym"
                },
                {
                    "name": "PC I-NP",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen I N-proteinase",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen I/II amino propeptide-processing enzyme",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen N-endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin and metalloproteinase with thrombospondin motifs 2",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2",
                    "type": "synonym"
                },
                {
                    "name": "pNPI",
                    "type": "synonym"
                },
                {
                    "name": "procollagen I N-proteinase",
                    "type": "synonym"
                },
                {
                    "name": "procollagen I/II amino propeptide-processing enzyme",
                    "type": "synonym"
                },
                {
                    "name": "procollagen N-endopeptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADAMTS2",
                    "type": "recommended"
                },
                {
                    "name": "ADAM-TS2",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTS-2",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTS-3",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTS2",
                    "type": "synonym"
                },
                {
                    "name": "EDSDERMS",
                    "type": "synonym"
                },
                {
                    "name": "NPI",
                    "type": "synonym"
                },
                {
                    "name": "PC I-NP",
                    "type": "synonym"
                },
                {
                    "name": "PCI-NP",
                    "type": "synonym"
                },
                {
                    "name": "PCINP",
                    "type": "synonym"
                },
                {
                    "name": "PCPNI",
                    "type": "synonym"
                },
                {
                    "name": "PNPI",
                    "type": "synonym"
                }
            ],
            "record_id": "O95450-1",
            "evidence": [
                {
                    "id": "225410",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/225410"
                },
                {
                    "id": "0080733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZTE7-1",
            "uniprot_ac": "D3ZTE7",
            "uniprot_id": "D3ZTE7_RAT",
            "refseq_ac": "NP_001382353",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ADAM metallopeptidase with thrombospondin type 1 motif, 2",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin and metalloproteinase with thrombospondin motifs 2",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 2",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adamts2",
                    "type": "recommended"
                },
                {
                    "name": "Adamts2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565950",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZTE7-1",
            "evidence": [
                {
                    "id": "0080733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1Z6-1",
            "uniprot_ac": "Q9W1Z6",
            "uniprot_id": "Q9W1Z6_DROME",
            "refseq_ac": "NP_001097423",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "CG3622-PC",
                    "type": "synonym"
                },
                {
                    "name": "Stall, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Stall, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "female sterile(2)A16",
                    "type": "synonym"
                },
                {
                    "name": "stall, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "stall",
                    "type": "synonym"
                },
                {
                    "name": "stl-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stl",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GM08694",
                    "type": "synonym"
                },
                {
                    "name": "CG3622",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3622",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3622",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)A16",
                    "type": "synonym"
                },
                {
                    "name": "stl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1Z6-1",
            "evidence": [
                {
                    "id": "0080733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080733"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080733"
}