{
    "disease_id": "DOID:0111727",
    "recommended_name": {
        "id": "DOID:0111727",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111727",
        "name": "geleophysic dysplasia 3",
        "description": "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in the LTBP3 gene on chromosome 11q13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111727",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111727",
            "name": "GPHYSD3",
            "description": ""
        },
        {
            "id": "MONDO:0054722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054722",
            "name": "geleophysic dysplasia 3",
            "description": ""
        },
        {
            "id": "MONDO:0054722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054722",
            "name": "GPHYSD3",
            "description": ""
        },
        {
            "id": "MIM:617809",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617809",
            "name": "Geleophysic dysplasia 3",
            "description": "Geleophysic dysplasia 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111727"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111727",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111727",
            "categories": []
        },
        {
            "id": "MONDO:0054722",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054722",
            "categories": []
        },
        {
            "id": "MIM:617809",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617809",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61810-1",
            "uniprot_ac": "Q61810",
            "uniprot_id": "LTBP3_MOUSE",
            "refseq_ac": "NP_032546",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "LTBP-3",
                    "type": "synonym"
                },
                {
                    "name": "latent-transforming growth factor beta-binding protein 3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ltbp3",
                    "type": "recommended"
                },
                {
                    "name": "Ltbp2",
                    "type": "synonym"
                },
                {
                    "name": "Ltbp3",
                    "type": "synonym"
                },
                {
                    "name": "mFLJ00070",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61810-1",
            "evidence": [
                {
                    "id": "0111727",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111727"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NS15-1",
            "uniprot_ac": "Q9NS15",
            "uniprot_id": "LTBP3_HUMAN",
            "refseq_ac": "NP_001123616",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "LTBP-3",
                    "type": "synonym"
                },
                {
                    "name": "latent TGF beta binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "latent-transforming growth factor beta-binding protein 3 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LTBP3",
                    "type": "recommended"
                },
                {
                    "name": "DASS",
                    "type": "synonym"
                },
                {
                    "name": "GPHYSD3",
                    "type": "synonym"
                },
                {
                    "name": "LTBP-3",
                    "type": "synonym"
                },
                {
                    "name": "LTBP2",
                    "type": "synonym"
                },
                {
                    "name": "LTBP3",
                    "type": "synonym"
                },
                {
                    "name": "STHAG6",
                    "type": "synonym"
                },
                {
                    "name": "pp6425",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NS15-1",
            "evidence": [
                {
                    "id": "617809",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617809"
                },
                {
                    "id": "0111727",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111727"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AVC5-1",
            "uniprot_ac": "A0A8I6AVC5",
            "uniprot_id": "A0A8I6AVC5_RAT",
            "refseq_ac": "XP_063131715",
            "glycoprotein": "no",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "latent-transforming growth factor beta-binding protein 3 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ltbp3",
                    "type": "recommended"
                },
                {
                    "name": "Ltbp3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AVC5-1",
            "evidence": [
                {
                    "id": "0111727",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111727"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111727"
}