{
    "disease_id": "DOID:0070133",
    "recommended_name": {
        "id": "DOID:0070133",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070133",
        "name": "autosomal recessive cutis laxa type IB",
        "description": "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070133",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070133",
            "name": "ARCL1B",
            "description": ""
        },
        {
            "id": "MONDO:0013754",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013754",
            "name": "cutis laxa, autosomal recessive, type 1B",
            "description": "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13."
        },
        {
            "id": "MONDO:0013754",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013754",
            "name": "ARCL1B",
            "description": ""
        },
        {
            "id": "MONDO:0013754",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013754",
            "name": "cutis laxa, autosomal recessive, type IB",
            "description": ""
        },
        {
            "id": "MIM:614437",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614437",
            "name": "Cutis laxa, autosomal recessive, 1B",
            "description": "Cutis laxa, autosomal recessive, 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070133"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070133",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070133",
            "categories": []
        },
        {
            "id": "MONDO:0013754",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013754",
            "categories": []
        },
        {
            "id": "MIM:614437",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614437",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WVJ9-1",
            "uniprot_ac": "Q9WVJ9",
            "uniprot_id": "FBLN4_MOUSE",
            "refseq_ac": "NP_067449",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "EGF-containing fibulin-like extracellular matrix protein 2",
                    "type": "recommended"
                },
                {
                    "name": "EGF-containing fibulin-like extracellular matrix protein 2 (Efemp2)",
                    "type": "synonym"
                },
                {
                    "name": "EGF-containing fibulin-like extracellular matrix protein 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "FIBL-4",
                    "type": "synonym"
                },
                {
                    "name": "Fibulin-4",
                    "type": "synonym"
                },
                {
                    "name": "Mutant p53-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "fibulin-4",
                    "type": "synonym"
                },
                {
                    "name": "mutant p53-binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Efemp2",
                    "type": "recommended"
                },
                {
                    "name": "0610011K11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Efemp2",
                    "type": "synonym"
                },
                {
                    "name": "Fbln4",
                    "type": "synonym"
                },
                {
                    "name": "MBP1",
                    "type": "synonym"
                },
                {
                    "name": "Mbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVJ9-1",
            "evidence": [
                {
                    "id": "0070133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95967-1",
            "uniprot_ac": "O95967",
            "uniprot_id": "FBLN4_HUMAN",
            "refseq_ac": "NP_058634",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "EGF-containing fibulin-like extracellular matrix protein 2",
                    "type": "recommended"
                },
                {
                    "name": "EGF containing fibulin extracellular matrix protein 2",
                    "type": "synonym"
                },
                {
                    "name": "EGF containing fibulin like extracellular matrix protein 2",
                    "type": "synonym"
                },
                {
                    "name": "EGF-containing fibulin-like extracellular matrix protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "FIBL-4",
                    "type": "synonym"
                },
                {
                    "name": "Fibulin-4",
                    "type": "synonym"
                },
                {
                    "name": "Protein UPH1",
                    "type": "synonym"
                },
                {
                    "name": "fibulin 4",
                    "type": "synonym"
                },
                {
                    "name": "mutant p53 binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EFEMP2",
                    "type": "recommended"
                },
                {
                    "name": "ARCL1B",
                    "type": "synonym"
                },
                {
                    "name": "EFEMP2",
                    "type": "synonym"
                },
                {
                    "name": "FBLN4",
                    "type": "synonym"
                },
                {
                    "name": "MBP1",
                    "type": "synonym"
                },
                {
                    "name": "PRO226",
                    "type": "synonym"
                },
                {
                    "name": "UPH1",
                    "type": "synonym"
                }
            ],
            "record_id": "O95967-1",
            "evidence": [
                {
                    "id": "614437",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614437"
                },
                {
                    "id": "0070133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5Y8F2-1",
            "uniprot_ac": "A0A8I5Y8F2",
            "uniprot_id": "A0A8I5Y8F2_RAT",
            "refseq_ac": "NP_001264270",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "EGF-containing fibulin-like extracellular matrix protein 2",
                    "type": "recommended"
                },
                {
                    "name": "EGF containing fibulin extracellular matrix protein 2",
                    "type": "synonym"
                },
                {
                    "name": "EGF-containing fibulin-like extracellular matrix protein 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "EGF-containing fibulin-like extracellular matrix protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Fibulin-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Efemp2",
                    "type": "recommended"
                },
                {
                    "name": "Efemp2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5Y8F2-1",
            "evidence": [
                {
                    "id": "0070133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54370-1",
            "uniprot_ac": "P54370",
            "uniprot_id": "OAZ1_RAT",
            "refseq_ac": "NP_620781",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ornithine decarboxylase antizyme 1",
                    "type": "recommended"
                },
                {
                    "name": "ODC-Az",
                    "type": "synonym"
                },
                {
                    "name": "ornithine decarboxylase antizyme 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oaz1",
                    "type": "recommended"
                },
                {
                    "name": "ODC-Az",
                    "type": "synonym"
                },
                {
                    "name": "ODCAC",
                    "type": "synonym"
                },
                {
                    "name": "Oaz1",
                    "type": "synonym"
                },
                {
                    "name": "Oaz",
                    "type": "synonym"
                }
            ],
            "record_id": "P54370-1",
            "evidence": [
                {
                    "id": "0070133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070133"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070133"
}