{
    "disease_id": "DOID:0070139",
    "recommended_name": {
        "id": "DOID:0070139",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070139",
        "name": "autosomal recessive cutis laxa type IC",
        "description": "A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070139",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070139",
            "name": "ARCL1C",
            "description": ""
        },
        {
            "id": "DOID:0070139",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070139",
            "name": "autosomal recessive cutis laxa type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0013170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013170",
            "name": "cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",
            "description": "A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13"
        },
        {
            "id": "MONDO:0013170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013170",
            "name": "ARCL1C",
            "description": ""
        },
        {
            "id": "MONDO:0013170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013170",
            "name": "Urban-Rifkin-Davis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013170",
            "name": "autosomal recessive cutis laxa type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0013170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013170",
            "name": "cutis laxa, autosomal recessive, type IC",
            "description": ""
        },
        {
            "id": "MIM:613177",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613177",
            "name": "Urban-Rifkin-Davis syndrome",
            "description": "Urban-Rifkin-Davis syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070139"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070139",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070139",
            "categories": []
        },
        {
            "id": "MONDO:0013170",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013170",
            "categories": []
        },
        {
            "id": "MIM:613177",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613177",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K4G1-1",
            "uniprot_ac": "Q8K4G1",
            "uniprot_id": "LTBP4_MOUSE",
            "refseq_ac": "NP_001107021",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Latent-transforming growth factor beta-binding protein 4",
                    "type": "recommended"
                },
                {
                    "name": "LTBP-4",
                    "type": "synonym"
                },
                {
                    "name": "latent-transforming growth factor beta-binding protein 4 isoform b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ltbp4",
                    "type": "recommended"
                },
                {
                    "name": "2310046A13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ltbp4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K4G1-1",
            "evidence": [
                {
                    "id": "0070139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070139"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N2S1-1",
            "uniprot_ac": "Q8N2S1",
            "uniprot_id": "LTBP4_HUMAN",
            "refseq_ac": "NP_001036009",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Latent-transforming growth factor beta-binding protein 4",
                    "type": "recommended"
                },
                {
                    "name": "LTBP-4",
                    "type": "synonym"
                },
                {
                    "name": "latent transforming growth factor-beta binding protein 4L",
                    "type": "synonym"
                },
                {
                    "name": "latent-transforming growth factor beta-binding protein 4 isoform a precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LTBP4",
                    "type": "recommended"
                },
                {
                    "name": "ARCL1C",
                    "type": "synonym"
                },
                {
                    "name": "LTBP-4",
                    "type": "synonym"
                },
                {
                    "name": "LTBP4L",
                    "type": "synonym"
                },
                {
                    "name": "LTBP4S",
                    "type": "synonym"
                },
                {
                    "name": "LTBP4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N2S1-1",
            "evidence": [
                {
                    "id": "613177",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613177"
                },
                {
                    "id": "0070139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070139"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A917-1",
            "uniprot_ac": "D4A917",
            "uniprot_id": "D4A917_RAT",
            "refseq_ac": "NP_001163807",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Latent-transforming growth factor beta-binding protein 4",
                    "type": "recommended"
                },
                {
                    "name": "latent-transforming growth factor beta-binding protein 4 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ltbp4",
                    "type": "recommended"
                },
                {
                    "name": "Ltbp4",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A917-1",
            "evidence": [
                {
                    "id": "0070139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070139"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070139"
}