{
    "disease_id": "DOID:0112040",
    "recommended_name": {
        "id": "DOID:0112040",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112040",
        "name": "non-syndromic X-linked intellectual disability 100",
        "description": "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112040",
            "name": "MRX100",
            "description": ""
        },
        {
            "id": "DOID:0112040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112040",
            "name": "X-linked mental retardation 100",
            "description": ""
        },
        {
            "id": "MONDO:0010488",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010488",
            "name": "intellectual disability, X-linked 100",
            "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene."
        },
        {
            "id": "MONDO:0010488",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010488",
            "name": "KIF4A non-syndromic X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010488",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010488",
            "name": "intellectual developmental disorder, X-linked 100, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010488",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010488",
            "name": "intellectual disability, X-linked 100",
            "description": ""
        },
        {
            "id": "MONDO:0010488",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010488",
            "name": "intellectual disability, X-linked type 100",
            "description": ""
        },
        {
            "id": "MONDO:0010488",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010488",
            "name": "mental retardation, X-linked type 100",
            "description": ""
        },
        {
            "id": "MONDO:0010488",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010488",
            "name": "non-syndromic X-linked intellectual disability caused by mutation in KIF4A",
            "description": ""
        },
        {
            "id": "MONDO:0010488",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010488",
            "name": "MRX100",
            "description": ""
        },
        {
            "id": "MONDO:0010488",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010488",
            "name": "mental retardation, X-linked 100",
            "description": ""
        },
        {
            "id": "MIM:300923",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300923",
            "name": "Intellectual developmental disorder, X-linked 100",
            "description": "Intellectual developmental disorder, X-linked 100"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112040"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112040",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112040",
            "categories": []
        },
        {
            "id": "MONDO:0010488",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010488",
            "categories": []
        },
        {
            "id": "MIM:300923",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300923",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P33174-1",
            "uniprot_ac": "P33174",
            "uniprot_id": "KIF4_MOUSE",
            "refseq_ac": "NP_032472",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromosome-associated kinesin KIF4",
                    "type": "recommended"
                },
                {
                    "name": "Chromokinesin",
                    "type": "synonym"
                },
                {
                    "name": "N-5 kinesin",
                    "type": "synonym"
                },
                {
                    "name": "chromokinesin",
                    "type": "synonym"
                },
                {
                    "name": "chromosome-associated kinesin KIF4",
                    "type": "synonym"
                },
                {
                    "name": "kinesin heavy chain member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif4",
                    "type": "recommended"
                },
                {
                    "name": "D330050K22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kif4a",
                    "type": "synonym"
                },
                {
                    "name": "Kif4",
                    "type": "synonym"
                },
                {
                    "name": "Kns4",
                    "type": "synonym"
                }
            ],
            "record_id": "P33174-1",
            "evidence": [
                {
                    "id": "0112040",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112040"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95239-1",
            "uniprot_ac": "O95239",
            "uniprot_id": "KIF4A_HUMAN",
            "refseq_ac": "NP_036442",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromosome-associated kinesin KIF4A",
                    "type": "recommended"
                },
                {
                    "name": "Chromokinesin-A",
                    "type": "synonym"
                },
                {
                    "name": "chromokinesin KIF4A",
                    "type": "synonym"
                },
                {
                    "name": "chromokinesin-A",
                    "type": "synonym"
                },
                {
                    "name": "chromosome-associated kinesin KIF4A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF4A",
                    "type": "recommended"
                },
                {
                    "name": "KIF4A",
                    "type": "synonym"
                },
                {
                    "name": "KIF4G1",
                    "type": "synonym"
                },
                {
                    "name": "KIF4",
                    "type": "synonym"
                },
                {
                    "name": "MRX100",
                    "type": "synonym"
                },
                {
                    "name": "TMDI",
                    "type": "synonym"
                },
                {
                    "name": "XLID100",
                    "type": "synonym"
                }
            ],
            "record_id": "O95239-1",
            "evidence": [
                {
                    "id": "300923",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300923"
                },
                {
                    "id": "0112040",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112040"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PSJ3-1",
            "uniprot_ac": "E9PSJ3",
            "uniprot_id": "E9PSJ3_RAT",
            "refseq_ac": "NP_001387859",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin family member 4A",
                    "type": "synonym"
                },
                {
                    "name": "chromosome-associated kinesin KIF4A",
                    "type": "synonym"
                },
                {
                    "name": "kinesin family member 4",
                    "type": "synonym"
                },
                {
                    "name": "kinesin heavy chain member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif4a",
                    "type": "recommended"
                },
                {
                    "name": "Kif4a",
                    "type": "synonym"
                },
                {
                    "name": "Kif4",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PSJ3-1",
            "evidence": [
                {
                    "id": "0112040",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112040"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9XZ29-1",
            "uniprot_ac": "Q9XZ29",
            "uniprot_id": "Q9XZ29_DROME",
            "refseq_ac": "NP_001284830",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "5.6.1.3",
                    "type": "synonym"
                },
                {
                    "name": "CG8590-PB",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-Like-Protein-at-3A",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-like protein at 3A, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-like protein at 3A, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin5",
                    "type": "synonym"
                },
                {
                    "name": "Klp3A-PB",
                    "type": "synonym"
                },
                {
                    "name": "female sterile(1)M4",
                    "type": "synonym"
                },
                {
                    "name": "meiotic 352",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klp3A",
                    "type": "recommended"
                },
                {
                    "name": "3A7Kin",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LD21815",
                    "type": "synonym"
                },
                {
                    "name": "CG8590",
                    "type": "synonym"
                },
                {
                    "name": "DmKLP3A",
                    "type": "synonym"
                },
                {
                    "name": "DmKlp3A",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8590",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8590",
                    "type": "synonym"
                },
                {
                    "name": "EG:BACR25B3.9",
                    "type": "synonym"
                },
                {
                    "name": "KIF 4A",
                    "type": "synonym"
                },
                {
                    "name": "KIF4A",
                    "type": "synonym"
                },
                {
                    "name": "KIF4",
                    "type": "synonym"
                },
                {
                    "name": "KLP-3A",
                    "type": "synonym"
                },
                {
                    "name": "KLP3A",
                    "type": "synonym"
                },
                {
                    "name": "Klp 3A",
                    "type": "synonym"
                },
                {
                    "name": "Klp3A",
                    "type": "synonym"
                },
                {
                    "name": "Klp3a",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)M4",
                    "type": "synonym"
                },
                {
                    "name": "klp3A",
                    "type": "synonym"
                },
                {
                    "name": "klp3a",
                    "type": "synonym"
                },
                {
                    "name": "mei-352",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9XZ29-1",
            "evidence": [
                {
                    "id": "0112040",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112040"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112040"
}