{
    "disease_id": "DOID:0060349",
    "recommended_name": {
        "id": "DOID:0060349",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060349",
        "name": "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation",
        "description": "A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability."
    },
    "synonyms": [
        {
            "id": "DOID:0060349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060349",
            "name": "lymphedema, microcephaly and chorioretinopathy syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060349",
            "name": "lymphedema and retinal folds with ficrocephaly and microphthalmos",
            "description": ""
        },
        {
            "id": "DOID:0060349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060349",
            "name": "microcephaly lymphedema chorioretinal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0060349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060349",
            "name": "chorioretinal dysplasia-microcephaly-mental retardation syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060349",
            "name": "microcephaly, lymphedema, chorioretinal dysplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability",
            "description": "A microcephaly caused by a mutation in KIF11 gene and follows autosomal dominant inheritance. It is characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability."
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "KIF11-associated disorder",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "MCLMR",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "MLCRD",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "MLCRD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "lymphedema, microcephaly and chorioretinopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "microcephaly, lymphedema, chorioretinal dysplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "KIF11 disease",
            "description": ""
        },
        {
            "id": "MONDO:0007918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "name": "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:152950",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/152950",
            "name": "Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development",
            "description": "Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060349"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060349",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060349",
            "categories": []
        },
        {
            "id": "MONDO:0007918",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007918",
            "categories": []
        },
        {
            "id": "MIM:152950",
            "database": "MIM",
            "url": "https://www.omim.org/entry/152950",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QK82-1",
            "uniprot_ac": "F1QK82",
            "uniprot_id": "F1QK82_DANRE",
            "refseq_ac": "NP_775368",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF11",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kif11",
                    "type": "recommended"
                },
                {
                    "name": "cb1",
                    "type": "synonym"
                },
                {
                    "name": "chunp6874",
                    "type": "synonym"
                },
                {
                    "name": "fa09c03",
                    "type": "synonym"
                },
                {
                    "name": "fb23c07",
                    "type": "synonym"
                },
                {
                    "name": "kif11",
                    "type": "synonym"
                },
                {
                    "name": "knsl1",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa09c03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb23c07",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QK82-1",
            "evidence": [
                {
                    "id": "0060349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P9P6-1",
            "uniprot_ac": "Q6P9P6",
            "uniprot_id": "KIF11_MOUSE",
            "refseq_ac": "NP_034745",
            "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 KIF11",
                    "type": "recommended"
                },
                {
                    "name": "Kinesin-related motor protein Eg5",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like 1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF11",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-related motor protein Eg5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif11",
                    "type": "recommended"
                },
                {
                    "name": "Eg5",
                    "type": "synonym"
                },
                {
                    "name": "Kif11",
                    "type": "synonym"
                },
                {
                    "name": "Kif8",
                    "type": "synonym"
                },
                {
                    "name": "Kifl1",
                    "type": "synonym"
                },
                {
                    "name": "Knsl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P9P6-1",
            "evidence": [
                {
                    "id": "0060349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52732-1",
            "uniprot_ac": "P52732",
            "uniprot_id": "KIF11_HUMAN",
            "refseq_ac": "NP_004514",
            "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 KIF11",
                    "type": "recommended"
                },
                {
                    "name": "Kinesin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-like spindle protein HKSP",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-related motor protein Eg5",
                    "type": "synonym"
                },
                {
                    "name": "TR-interacting protein 5",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-5",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid receptor-interacting protein 5",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF11",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like spindle protein HKSP",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-related motor protein Eg5",
                    "type": "synonym"
                },
                {
                    "name": "thyroid receptor-interacting protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF11",
                    "type": "recommended"
                },
                {
                    "name": "EG5",
                    "type": "synonym"
                },
                {
                    "name": "HKSP",
                    "type": "synonym"
                },
                {
                    "name": "KIF11",
                    "type": "synonym"
                },
                {
                    "name": "KNSL1",
                    "type": "synonym"
                },
                {
                    "name": "MCLMR",
                    "type": "synonym"
                },
                {
                    "name": "TRIP5",
                    "type": "synonym"
                }
            ],
            "record_id": "P52732-1",
            "evidence": [
                {
                    "id": "152950",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/152950"
                },
                {
                    "id": "0060349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28742-1",
            "uniprot_ac": "P28742",
            "uniprot_id": "KIP1_YEAST",
            "refseq_ac": "NP_009490",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIP1",
                    "type": "recommended"
                },
                {
                    "name": "Chromosome instability protein 9",
                    "type": "synonym"
                },
                {
                    "name": "Kip1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIP1",
                    "type": "recommended"
                },
                {
                    "name": "CIN9",
                    "type": "synonym"
                },
                {
                    "name": "KIP1",
                    "type": "synonym"
                },
                {
                    "name": "YBL0504",
                    "type": "synonym"
                },
                {
                    "name": "YBL0521",
                    "type": "synonym"
                }
            ],
            "record_id": "P28742-1",
            "evidence": [
                {
                    "id": "0060349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27895-1",
            "uniprot_ac": "P27895",
            "uniprot_id": "CIN8_YEAST",
            "refseq_ac": "NP_010853",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein CIN8",
                    "type": "recommended"
                },
                {
                    "name": "Chromosome instability protein 8",
                    "type": "synonym"
                },
                {
                    "name": "kinesin motor protein CIN8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CIN8",
                    "type": "recommended"
                },
                {
                    "name": "CIN8",
                    "type": "synonym"
                },
                {
                    "name": "KSL2",
                    "type": "synonym"
                },
                {
                    "name": "SDS15",
                    "type": "synonym"
                }
            ],
            "record_id": "P27895-1",
            "evidence": [
                {
                    "id": "0060349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1MAB8-1",
            "uniprot_ac": "F1MAB8",
            "uniprot_id": "F1MAB8_RAT",
            "refseq_ac": "NP_001162583",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF11",
                    "type": "recommended"
                },
                {
                    "name": "Kinesin-related motor protein Eg5",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like 1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif11",
                    "type": "recommended"
                },
                {
                    "name": "Kif11",
                    "type": "synonym"
                },
                {
                    "name": "Knsl1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1MAB8-1",
            "evidence": [
                {
                    "id": "0060349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46863-1",
            "uniprot_ac": "P46863",
            "uniprot_id": "KL61_DROME",
            "refseq_ac": "NP_476818",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein Klp61F",
                    "type": "recommended"
                },
                {
                    "name": "Bipolar kinesin KRP-130",
                    "type": "synonym"
                },
                {
                    "name": "CG9191-PA",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-like protein at 61F",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-related protein-130kD",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin8B",
                    "type": "synonym"
                },
                {
                    "name": "Klp61F-PA",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-5 motor",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-5s",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-5",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "urchin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klp61F",
                    "type": "recommended"
                },
                {
                    "name": "6345",
                    "type": "synonym"
                },
                {
                    "name": "CG9191-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG9191",
                    "type": "synonym"
                },
                {
                    "name": "DmKLP61F",
                    "type": "synonym"
                },
                {
                    "name": "DmKRP130",
                    "type": "synonym"
                },
                {
                    "name": "DmKlp61F",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9191",
                    "type": "synonym"
                },
                {
                    "name": "KIF 8",
                    "type": "synonym"
                },
                {
                    "name": "KIF11",
                    "type": "synonym"
                },
                {
                    "name": "KLP2",
                    "type": "synonym"
                },
                {
                    "name": "KLP61F",
                    "type": "synonym"
                },
                {
                    "name": "KLP61f",
                    "type": "synonym"
                },
                {
                    "name": "KLP61",
                    "type": "synonym"
                },
                {
                    "name": "KRP130",
                    "type": "synonym"
                },
                {
                    "name": "KRP[[(130)]]",
                    "type": "synonym"
                },
                {
                    "name": "KRP[[130]]",
                    "type": "synonym"
                },
                {
                    "name": "Kin-5",
                    "type": "synonym"
                },
                {
                    "name": "Kin5",
                    "type": "synonym"
                },
                {
                    "name": "Klp 61F",
                    "type": "synonym"
                },
                {
                    "name": "Klp2",
                    "type": "synonym"
                },
                {
                    "name": "Klp61F/KRP130",
                    "type": "synonym"
                },
                {
                    "name": "Klp61F",
                    "type": "synonym"
                },
                {
                    "name": "Klp61f",
                    "type": "synonym"
                },
                {
                    "name": "Krp130",
                    "type": "synonym"
                },
                {
                    "name": "klp61F",
                    "type": "synonym"
                },
                {
                    "name": "klp61f",
                    "type": "synonym"
                },
                {
                    "name": "l(3)07012",
                    "type": "synonym"
                },
                {
                    "name": "l(3)6D283",
                    "type": "synonym"
                },
                {
                    "name": "l(3)Klp61F",
                    "type": "synonym"
                },
                {
                    "name": "urcn",
                    "type": "synonym"
                },
                {
                    "name": "urc",
                    "type": "synonym"
                }
            ],
            "record_id": "P46863-1",
            "evidence": [
                {
                    "id": "0060349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060349"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060349"
}