{
    "disease_id": "DOID:0061275",
    "recommended_name": {
        "id": "DOID:0061275",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061275",
        "name": "Weill-Marchesani syndrome 3",
        "description": "A Weill-Marchesani syndrome that has_material_basis_in homozygous mutation in the LTBP2 gene on chromosome 14q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0013899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013899",
            "name": "Weill-Marchesani syndrome 3",
            "description": "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene."
        },
        {
            "id": "MONDO:0013899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013899",
            "name": "LTBP2 Weill-Marchesani syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013899",
            "name": "Weill-Marchesani syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013899",
            "name": "Weill-Marchesani syndrome 3, recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013899",
            "name": "Weill-Marchesani syndrome caused by mutation in LTBP2",
            "description": ""
        },
        {
            "id": "MONDO:0013899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013899",
            "name": "Weill-Marchesani syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013899",
            "name": "WMS3",
            "description": ""
        },
        {
            "id": "MIM:614819",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614819",
            "name": "Weill-Marchesani syndrome 3",
            "description": "Weill-Marchesani syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061275"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061275",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061275",
            "categories": []
        },
        {
            "id": "MONDO:0013899",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013899",
            "categories": []
        },
        {
            "id": "MIM:614819",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614819",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q14767-1",
            "uniprot_ac": "Q14767",
            "uniprot_id": "LTBP2_HUMAN",
            "refseq_ac": "NP_000419",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "LTBP-2",
                    "type": "synonym"
                },
                {
                    "name": "latent-transforming growth factor beta-binding protein 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LTBP2",
                    "type": "recommended"
                },
                {
                    "name": "C14orf141",
                    "type": "synonym"
                },
                {
                    "name": "GLC3D",
                    "type": "synonym"
                },
                {
                    "name": "LTBP2",
                    "type": "synonym"
                },
                {
                    "name": "LTBP3",
                    "type": "synonym"
                },
                {
                    "name": "MSPKA",
                    "type": "synonym"
                },
                {
                    "name": "MSTP031",
                    "type": "synonym"
                },
                {
                    "name": "WMS3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14767-1",
            "evidence": [
                {
                    "id": "614819",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614819"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061275"
}