{
    "disease_id": "DOID:0070130",
    "recommended_name": {
        "id": "DOID:0070130",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070130",
        "name": "autosomal dominant cutis laxa 1",
        "description": "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11."
    },
    "synonyms": [
        {
            "id": "DOID:0070130",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070130",
            "name": "ADCL1",
            "description": ""
        },
        {
            "id": "MONDO:0007411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007411",
            "name": "cutis laxa, autosomal dominant 1",
            "description": "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene."
        },
        {
            "id": "MONDO:0007411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007411",
            "name": "cutis laxa, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007411",
            "name": "ADCL1",
            "description": ""
        },
        {
            "id": "MONDO:0007411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007411",
            "name": "ELN autosomal dominant cutis laxa",
            "description": ""
        },
        {
            "id": "MONDO:0007411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007411",
            "name": "autosomal dominant cutis laxa caused by mutation in ELN",
            "description": ""
        },
        {
            "id": "MONDO:0007411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007411",
            "name": "cutis laxa, autosomal dominant 1",
            "description": ""
        },
        {
            "id": "MONDO:0007411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007411",
            "name": "cutis laxa, autosomal dominant type 1",
            "description": ""
        },
        {
            "id": "MIM:123700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/123700",
            "name": "Cutis laxa, autosomal dominant, 1",
            "description": "Cutis laxa, autosomal dominant, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070130"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070130",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070130",
            "categories": []
        },
        {
            "id": "MONDO:0007411",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007411",
            "categories": []
        },
        {
            "id": "MIM:123700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/123700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6Z3N0-1",
            "uniprot_ac": "A0A8M6Z3N0",
            "uniprot_id": "A0A8M6Z3N0_DANRE",
            "refseq_ac": "XP_017208279",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elastin",
                    "type": "recommended"
                },
                {
                    "name": "Tropoelastin",
                    "type": "synonym"
                },
                {
                    "name": "elastin b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "elnb",
                    "type": "recommended"
                },
                {
                    "name": "eln2",
                    "type": "synonym"
                },
                {
                    "name": "elnb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z3N0-1",
            "evidence": [
                {
                    "id": "0070130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8N1TQS2-1",
            "uniprot_ac": "A0A8N1TQS2",
            "uniprot_id": "A0A8N1TQS2_DANRE",
            "refseq_ac": "NP_001073532",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elastin",
                    "type": "recommended"
                },
                {
                    "name": "Tropoelastin",
                    "type": "synonym"
                },
                {
                    "name": "elastin isoform 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tropoelastin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "elna",
                    "type": "recommended"
                },
                {
                    "name": "eln1",
                    "type": "synonym"
                },
                {
                    "name": "elna",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N1TQS2-1",
            "evidence": [
                {
                    "id": "0070130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54320-1",
            "uniprot_ac": "P54320",
            "uniprot_id": "ELN_MOUSE",
            "refseq_ac": "NP_031951",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elastin",
                    "type": "recommended"
                },
                {
                    "name": "Tropoelastin",
                    "type": "synonym"
                },
                {
                    "name": "elastin precursor",
                    "type": "synonym"
                },
                {
                    "name": "tropoelastin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eln",
                    "type": "recommended"
                },
                {
                    "name": "E030024M20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Eln",
                    "type": "synonym"
                }
            ],
            "record_id": "P54320-1",
            "evidence": [
                {
                    "id": "0070130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15502-3",
            "uniprot_ac": "P15502",
            "uniprot_id": "ELN_HUMAN",
            "refseq_ac": "NP_001265868",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elastin",
                    "type": "recommended"
                },
                {
                    "name": "Tropoelastin",
                    "type": "synonym"
                },
                {
                    "name": "elastin isoform m precursor",
                    "type": "synonym"
                },
                {
                    "name": "tropoelastin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ELN",
                    "type": "recommended"
                },
                {
                    "name": "ADCL1",
                    "type": "synonym"
                },
                {
                    "name": "ELN",
                    "type": "synonym"
                },
                {
                    "name": "SVAS",
                    "type": "synonym"
                },
                {
                    "name": "WBS",
                    "type": "synonym"
                },
                {
                    "name": "WS",
                    "type": "synonym"
                }
            ],
            "record_id": "P15502-3",
            "evidence": [
                {
                    "id": "123700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/123700"
                },
                {
                    "id": "0070130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99372-1",
            "uniprot_ac": "Q99372",
            "uniprot_id": "ELN_RAT",
            "refseq_ac": "NP_036854",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elastin",
                    "type": "recommended"
                },
                {
                    "name": "Tropoelastin",
                    "type": "synonym"
                },
                {
                    "name": "elastin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eln",
                    "type": "recommended"
                },
                {
                    "name": "Eln",
                    "type": "synonym"
                },
                {
                    "name": "RATTREL11",
                    "type": "synonym"
                },
                {
                    "name": "TREL11",
                    "type": "synonym"
                },
                {
                    "name": "Trela26",
                    "type": "synonym"
                },
                {
                    "name": "Trela",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99372-1",
            "evidence": [
                {
                    "id": "0070130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070130"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070130"
}