{
    "disease_id": "DOID:0112200",
    "recommended_name": {
        "id": "DOID:0112200",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112200",
        "name": "spondyloepimetaphyseal dysplasia with joint laxity type 3",
        "description": "A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112200",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112200",
            "name": "SEMDJL3",
            "description": ""
        },
        {
            "id": "MONDO:0032724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032724",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0032724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032724",
            "name": "SEMDJL3",
            "description": ""
        },
        {
            "id": "MONDO:0032724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032724",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity, EXOC6b type",
            "description": ""
        },
        {
            "id": "MIM:618395",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618395",
            "name": "Spondyloepimetaphyseal dysplasia with joint laxity, 3",
            "description": "Spondyloepimetaphyseal dysplasia with joint laxity, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112200"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112200",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112200",
            "categories": []
        },
        {
            "id": "MONDO:0032724",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032724",
            "categories": []
        },
        {
            "id": "MIM:618395",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618395",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58G0F1-1",
            "uniprot_ac": "A0AC58G0F1",
            "uniprot_id": "A0AC58G0F1_DANRE",
            "refseq_ac": "XP_073763242",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Exocyst complex component",
                    "type": "recommended"
                },
                {
                    "name": "exocyst complex component 6B isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "exoc6b",
                    "type": "recommended"
                },
                {
                    "name": "exoc6b",
                    "type": "synonym"
                },
                {
                    "name": "fa55b02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa55b02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153610",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58G0F1-1",
            "evidence": [
                {
                    "id": "0112200",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112200"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A6H5Z3-1",
            "uniprot_ac": "A6H5Z3",
            "uniprot_id": "EXC6B_MOUSE",
            "refseq_ac": "NP_796051",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Exocyst complex component 6B",
                    "type": "recommended"
                },
                {
                    "name": "Exocyst complex component Sec15B",
                    "type": "synonym"
                },
                {
                    "name": "SEC15-like 2",
                    "type": "synonym"
                },
                {
                    "name": "SEC15-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "exocyst complex component 6B",
                    "type": "synonym"
                },
                {
                    "name": "exocyst complex component Sec15B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Exoc6b",
                    "type": "recommended"
                },
                {
                    "name": "4930569O18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Exoc6b",
                    "type": "synonym"
                },
                {
                    "name": "G430127E12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Sec15b",
                    "type": "synonym"
                },
                {
                    "name": "Sec15l2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0919",
                    "type": "synonym"
                }
            ],
            "record_id": "A6H5Z3-1",
            "evidence": [
                {
                    "id": "0112200",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112200"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2D4-1",
            "uniprot_ac": "Q9Y2D4",
            "uniprot_id": "EXC6B_HUMAN",
            "refseq_ac": "NP_056004",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Exocyst complex component 6B",
                    "type": "recommended"
                },
                {
                    "name": "Exocyst complex component Sec15B",
                    "type": "synonym"
                },
                {
                    "name": "SEC15 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "SEC15-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "exocyst complex component 6B isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "exocyst complex component Sec15B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EXOC6B",
                    "type": "recommended"
                },
                {
                    "name": "EXOC6B",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0919",
                    "type": "synonym"
                },
                {
                    "name": "SEC15B",
                    "type": "synonym"
                },
                {
                    "name": "SEC15L2",
                    "type": "synonym"
                },
                {
                    "name": "SEMDJL3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2D4-1",
            "evidence": [
                {
                    "id": "618395",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618395"
                },
                {
                    "id": "0112200",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112200"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22224-1",
            "uniprot_ac": "P22224",
            "uniprot_id": "SEC15_YEAST",
            "refseq_ac": "NP_011281",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Exocyst complex component SEC15",
                    "type": "recommended"
                },
                {
                    "name": "Rab GTPase-binding exocyst subunit SEC15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC15",
                    "type": "recommended"
                },
                {
                    "name": "SEC15",
                    "type": "synonym"
                }
            ],
            "record_id": "P22224-1",
            "evidence": [
                {
                    "id": "0112200",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112200"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M2U2-1",
            "uniprot_ac": "A0ABK0M2U2",
            "uniprot_id": "A0ABK0M2U2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Exocyst complex component",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Exoc6b",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0M2U2-1",
            "evidence": [
                {
                    "id": "0112200",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112200"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDE6-1",
            "uniprot_ac": "Q9VDE6",
            "uniprot_id": "EXOC6_DROME",
            "refseq_ac": "NP_650942",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Exocyst complex component 6",
                    "type": "recommended"
                },
                {
                    "name": "CG7034-PA",
                    "type": "synonym"
                },
                {
                    "name": "Exocyst complex component Sec15",
                    "type": "synonym"
                },
                {
                    "name": "Sec15 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Sec15-PA",
                    "type": "synonym"
                },
                {
                    "name": "secretory 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec15",
                    "type": "recommended"
                },
                {
                    "name": "3R41",
                    "type": "synonym"
                },
                {
                    "name": "CG7034",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7034",
                    "type": "synonym"
                },
                {
                    "name": "Sec15p",
                    "type": "synonym"
                },
                {
                    "name": "Sec15",
                    "type": "synonym"
                },
                {
                    "name": "dsec15",
                    "type": "synonym"
                },
                {
                    "name": "sec15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDE6-1",
            "evidence": [
                {
                    "id": "0112200",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112200"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112200"
}