{
    "disease_id": "DOID:0112020",
    "recommended_name": {
        "id": "DOID:0112020",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112020",
        "name": "non-syndromic X-linked intellectual disability 103",
        "description": "A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11."
    },
    "synonyms": [
        {
            "id": "DOID:0112020",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112020",
            "name": "MRX103",
            "description": ""
        },
        {
            "id": "DOID:0112020",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112020",
            "name": "X-linked mental retardation 103",
            "description": ""
        },
        {
            "id": "MONDO:0010508",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010508",
            "name": "intellectual disability, X-linked 103",
            "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene."
        },
        {
            "id": "MONDO:0010508",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010508",
            "name": "KLHL15 non-syndromic X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010508",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010508",
            "name": "MRX103",
            "description": ""
        },
        {
            "id": "MONDO:0010508",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010508",
            "name": "intellectual developmental disorder, X-linked 103, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010508",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010508",
            "name": "intellectual disability, X-linked 103",
            "description": ""
        },
        {
            "id": "MONDO:0010508",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010508",
            "name": "intellectual disability, X-linked type 103",
            "description": ""
        },
        {
            "id": "MONDO:0010508",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010508",
            "name": "mental retardation, X-linked 103",
            "description": ""
        },
        {
            "id": "MONDO:0010508",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010508",
            "name": "mental retardation, X-linked type 103",
            "description": ""
        },
        {
            "id": "MONDO:0010508",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010508",
            "name": "non-syndromic X-linked intellectual disability caused by mutation in KLHL15",
            "description": ""
        },
        {
            "id": "MIM:300982",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300982",
            "name": "Intellectual developmental disorder, X-linked 103",
            "description": "Intellectual developmental disorder, X-linked 103"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112020"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112020",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112020",
            "categories": []
        },
        {
            "id": "MONDO:0010508",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010508",
            "categories": []
        },
        {
            "id": "MIM:300982",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300982",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DEL7-1",
            "uniprot_ac": "Q6DEL7",
            "uniprot_id": "KLH15_DANRE",
            "refseq_ac": "NP_001003580",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like protein 15",
                    "type": "recommended"
                },
                {
                    "name": "kelch-like 15",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "klhl15",
                    "type": "recommended"
                },
                {
                    "name": "klhl15",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa66h10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101051",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DEL7-1",
            "evidence": [
                {
                    "id": "0112020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AAX3-1",
            "uniprot_ac": "A2AAX3",
            "uniprot_id": "KLH15_MOUSE",
            "refseq_ac": "NP_001034148",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like protein 15",
                    "type": "recommended"
                },
                {
                    "name": "kelch-like protein 15 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klhl15",
                    "type": "recommended"
                },
                {
                    "name": "6330500C13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Klhl15",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AAX3-1",
            "evidence": [
                {
                    "id": "0112020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96M94-1",
            "uniprot_ac": "Q96M94",
            "uniprot_id": "KLH15_HUMAN",
            "refseq_ac": "NP_085127",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like protein 15",
                    "type": "recommended"
                },
                {
                    "name": "epididymis secretory protein Li 305",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like 15",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KLHL15",
                    "type": "recommended"
                },
                {
                    "name": "HEL-S-305",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1677",
                    "type": "synonym"
                },
                {
                    "name": "KLHL15",
                    "type": "synonym"
                },
                {
                    "name": "XLID103",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96M94-1",
            "evidence": [
                {
                    "id": "300982",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300982"
                },
                {
                    "id": "0112020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZA50-1",
            "uniprot_ac": "D3ZA50",
            "uniprot_id": "KLH15_RAT",
            "refseq_ac": "NP_001101491",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like protein 15",
                    "type": "recommended"
                },
                {
                    "name": "kelch-like 15",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klhl15",
                    "type": "recommended"
                },
                {
                    "name": "Klhl15",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563101",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZA50-1",
            "evidence": [
                {
                    "id": "0112020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRA7-1",
            "uniprot_ac": "Q9VRA7",
            "uniprot_id": "Q9VRA7_DROME",
            "refseq_ac": "NP_608397",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like protein diablo",
                    "type": "recommended"
                },
                {
                    "name": "CG1812-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG1812",
                    "type": "recommended"
                },
                {
                    "name": "CG1812",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1812",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1812",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRA7-1",
            "evidence": [
                {
                    "id": "0112020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112020"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112020"
}