{
    "disease_id": "DOID:0070136",
    "recommended_name": {
        "id": "DOID:0070136",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070136",
        "name": "autosomal dominant cutis laxa 2",
        "description": "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "DOID:0070136",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070136",
            "name": "ADCL2",
            "description": ""
        },
        {
            "id": "MONDO:0013751",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013751",
            "name": "cutis laxa, autosomal dominant 2",
            "description": "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene."
        },
        {
            "id": "MONDO:0013751",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013751",
            "name": "FBLN5 autosomal dominant cutis laxa",
            "description": ""
        },
        {
            "id": "MONDO:0013751",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013751",
            "name": "autosomal dominant cutis laxa caused by mutation in FBLN5",
            "description": ""
        },
        {
            "id": "MONDO:0013751",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013751",
            "name": "cutis laxa, autosomal dominant 2",
            "description": ""
        },
        {
            "id": "MONDO:0013751",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013751",
            "name": "cutis laxa, autosomal dominant type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013751",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013751",
            "name": "ADCL2",
            "description": ""
        },
        {
            "id": "MIM:614434",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614434",
            "name": "Cutis laxa, autosomal dominant, 2",
            "description": "Cutis laxa, autosomal dominant, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070136"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070136",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070136",
            "categories": []
        },
        {
            "id": "MONDO:0013751",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013751",
            "categories": []
        },
        {
            "id": "MIM:614434",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614434",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8A4X3-1",
            "uniprot_ac": "B8A4X3",
            "uniprot_id": "B8A4X3_DANRE",
            "refseq_ac": "XP_005156878",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Developmental arteries and neural crest EGF-like protein",
                    "type": "recommended"
                },
                {
                    "name": "fibulin-5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fbln5",
                    "type": "recommended"
                },
                {
                    "name": "fbln5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103575",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A4X3-1",
            "evidence": [
                {
                    "id": "0070136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070136"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVH9-1",
            "uniprot_ac": "Q9WVH9",
            "uniprot_id": "FBLN5_MOUSE",
            "refseq_ac": "NP_035942",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibulin-5",
                    "type": "recommended"
                },
                {
                    "name": "Dance",
                    "type": "synonym"
                },
                {
                    "name": "Developmental arteries and neural crest EGF-like protein",
                    "type": "synonym"
                },
                {
                    "name": "FIBL-5",
                    "type": "synonym"
                },
                {
                    "name": "developmental arteries and neural crest EGF-like protein",
                    "type": "synonym"
                },
                {
                    "name": "fibulin-5 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbln5",
                    "type": "recommended"
                },
                {
                    "name": "A55",
                    "type": "synonym"
                },
                {
                    "name": "DANCE",
                    "type": "synonym"
                },
                {
                    "name": "Dance",
                    "type": "synonym"
                },
                {
                    "name": "EVEC",
                    "type": "synonym"
                },
                {
                    "name": "Fbln5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVH9-1",
            "evidence": [
                {
                    "id": "0070136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070136"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBX5-1",
            "uniprot_ac": "Q9UBX5",
            "uniprot_id": "FBLN5_HUMAN",
            "refseq_ac": "NP_006320",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibulin-5",
                    "type": "recommended"
                },
                {
                    "name": "Dance",
                    "type": "synonym"
                },
                {
                    "name": "Developmental arteries and neural crest EGF-like protein",
                    "type": "synonym"
                },
                {
                    "name": "FIBL-5",
                    "type": "synonym"
                },
                {
                    "name": "UP50",
                    "type": "synonym"
                },
                {
                    "name": "Urine p50 protein",
                    "type": "synonym"
                },
                {
                    "name": "developmental arteries and neural crest EGF-like protein",
                    "type": "synonym"
                },
                {
                    "name": "embryonic vascular EGF-like repeat-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "fibulin-5 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "testis tissue sperm-binding protein Li 75n",
                    "type": "synonym"
                },
                {
                    "name": "urine p50 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FBLN5",
                    "type": "recommended"
                },
                {
                    "name": "ADCL2",
                    "type": "synonym"
                },
                {
                    "name": "ARCL1A",
                    "type": "synonym"
                },
                {
                    "name": "ARMD3",
                    "type": "synonym"
                },
                {
                    "name": "CMT1H",
                    "type": "synonym"
                },
                {
                    "name": "DANCE",
                    "type": "synonym"
                },
                {
                    "name": "EVEC",
                    "type": "synonym"
                },
                {
                    "name": "FBLN5",
                    "type": "synonym"
                },
                {
                    "name": "FIBL-5",
                    "type": "synonym"
                },
                {
                    "name": "HNARMD",
                    "type": "synonym"
                },
                {
                    "name": "PRO210",
                    "type": "synonym"
                },
                {
                    "name": "UP50",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBX5-1",
            "evidence": [
                {
                    "id": "614434",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614434"
                },
                {
                    "id": "0070136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070136"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVH8-1",
            "uniprot_ac": "Q9WVH8",
            "uniprot_id": "FBLN5_RAT",
            "refseq_ac": "NP_062026",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibulin-5",
                    "type": "recommended"
                },
                {
                    "name": "Dance",
                    "type": "synonym"
                },
                {
                    "name": "Developmental arteries and neural crest EGF-like protein",
                    "type": "synonym"
                },
                {
                    "name": "EVEC",
                    "type": "synonym"
                },
                {
                    "name": "Embryonic vascular EGF repeat-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "FIBL-5",
                    "type": "synonym"
                },
                {
                    "name": "dance",
                    "type": "synonym"
                },
                {
                    "name": "developmental arteries and neural crest EGF-like protein",
                    "type": "synonym"
                },
                {
                    "name": "embryonic vascular EGF repeat-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "fibulin-5 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbln5",
                    "type": "recommended"
                },
                {
                    "name": "Dance",
                    "type": "synonym"
                },
                {
                    "name": "Fbln5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVH8-1",
            "evidence": [
                {
                    "id": "0070136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070136"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62755-1",
            "uniprot_ac": "P62755",
            "uniprot_id": "RS6_RAT",
            "refseq_ac": "NP_058856",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS6",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S6-like",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein S6",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps6",
                    "type": "recommended"
                },
                {
                    "name": "Rps6",
                    "type": "synonym"
                }
            ],
            "record_id": "P62755-1",
            "evidence": [
                {
                    "id": "0070136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070136"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11511-1",
            "uniprot_ac": "P11511",
            "uniprot_id": "CP19A_HUMAN",
            "refseq_ac": "NP_000094",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aromatase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.14",
                    "type": "synonym"
                },
                {
                    "name": "CYPXIX",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P-450AROM",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 19A1",
                    "type": "synonym"
                },
                {
                    "name": "Estrogen synthase",
                    "type": "synonym"
                },
                {
                    "name": "aromatase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P-450AROM",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 19A1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 19, subfamily A, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily XIX (aromatization of androgens)",
                    "type": "synonym"
                },
                {
                    "name": "estrogen synthase",
                    "type": "synonym"
                },
                {
                    "name": "estrogen synthetase",
                    "type": "synonym"
                },
                {
                    "name": "flavoprotein-linked monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "microsomal monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP19A1",
                    "type": "recommended"
                },
                {
                    "name": "ARO1",
                    "type": "synonym"
                },
                {
                    "name": "ARO",
                    "type": "synonym"
                },
                {
                    "name": "CPV1",
                    "type": "synonym"
                },
                {
                    "name": "CYAR",
                    "type": "synonym"
                },
                {
                    "name": "CYP19A1",
                    "type": "synonym"
                },
                {
                    "name": "CYP19",
                    "type": "synonym"
                },
                {
                    "name": "CYPXIX",
                    "type": "synonym"
                },
                {
                    "name": "P-450AROM",
                    "type": "synonym"
                }
            ],
            "record_id": "P11511-1",
            "evidence": [
                {
                    "id": "0070136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070136"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070136"
}