{
    "disease_id": "DOID:0112199",
    "recommended_name": {
        "id": "DOID:0112199",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112199",
        "name": "spondyloepimetaphyseal dysplasia with joint laxity type 2",
        "description": "A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112199",
            "name": "SEMD-MD",
            "description": ""
        },
        {
            "id": "DOID:0112199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112199",
            "name": "SEMDJL2",
            "description": ""
        },
        {
            "id": "DOID:0112199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112199",
            "name": "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type",
            "description": ""
        },
        {
            "id": "DOID:0112199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112199",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type",
            "description": ""
        },
        {
            "id": "DOID:0112199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112199",
            "name": "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "spondyloepimetaphyseal dysplasia with multiple dislocations",
            "description": "A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity."
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "SEMD-MD",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "SEMDJL2",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "spondyloepimetaphyseal dysplasia with JOINT laxity type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "spondyloepimetaphyseal dysplasia with multiple dislocations Hall type",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type",
            "description": ""
        },
        {
            "id": "MIM:603546",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603546",
            "name": "Spondyloepimetaphyseal dysplasia with joint laxity, 2",
            "description": "Spondyloepimetaphyseal dysplasia with joint laxity, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112199"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112199",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112199",
            "categories": []
        },
        {
            "id": "MONDO:0011335",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "categories": []
        },
        {
            "id": "MIM:603546",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603546",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A8WFU8-1",
            "uniprot_ac": "A8WFU8",
            "uniprot_id": "KIF22_DANRE",
            "refseq_ac": "NP_001107063",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF22",
                    "type": "recommended"
                },
                {
                    "name": "kinesin-like protein KIF22",
                    "type": "synonym"
                },
                {
                    "name": "zKIF22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kif22",
                    "type": "recommended"
                },
                {
                    "name": "kif22",
                    "type": "synonym"
                },
                {
                    "name": "zgc:171724",
                    "type": "synonym"
                }
            ],
            "record_id": "A8WFU8-1",
            "evidence": [
                {
                    "id": "0112199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112199"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3V300-1",
            "uniprot_ac": "Q3V300",
            "uniprot_id": "KIF22_MOUSE",
            "refseq_ac": "NP_663563",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF22",
                    "type": "recommended"
                },
                {
                    "name": "kinesin family member 22A",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF22 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif22",
                    "type": "recommended"
                },
                {
                    "name": "Kid",
                    "type": "synonym"
                },
                {
                    "name": "Kif22a",
                    "type": "synonym"
                },
                {
                    "name": "Kif22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3V300-1",
            "evidence": [
                {
                    "id": "0112199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112199"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14807-1",
            "uniprot_ac": "Q14807",
            "uniprot_id": "KIF22_HUMAN",
            "refseq_ac": "NP_001243198",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF22",
                    "type": "recommended"
                },
                {
                    "name": "Kinesin-like DNA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like DNA-binding protein pseudogene",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF22 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "oriP binding protein",
                    "type": "synonym"
                },
                {
                    "name": "origin of plasmid DNA replication-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF22",
                    "type": "recommended"
                },
                {
                    "name": "A-328A3.2",
                    "type": "synonym"
                },
                {
                    "name": "KID",
                    "type": "synonym"
                },
                {
                    "name": "KIF22",
                    "type": "synonym"
                },
                {
                    "name": "KNSL4",
                    "type": "synonym"
                },
                {
                    "name": "OBP-1",
                    "type": "synonym"
                },
                {
                    "name": "OBP-2",
                    "type": "synonym"
                },
                {
                    "name": "OBP",
                    "type": "synonym"
                },
                {
                    "name": "SEMDJL2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14807-1",
            "evidence": [
                {
                    "id": "603546",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603546"
                },
                {
                    "id": "0112199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112199"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5I0E8-1",
            "uniprot_ac": "Q5I0E8",
            "uniprot_id": "KIF22_RAT",
            "refseq_ac": "NP_001009645",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF22",
                    "type": "recommended"
                },
                {
                    "name": "kinesin-like protein KIF22-like",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif22",
                    "type": "recommended"
                },
                {
                    "name": "Kif22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5I0E8-1",
            "evidence": [
                {
                    "id": "0112199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112199"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112199"
}