{
    "disease_id": "DOID:0111814",
    "recommended_name": {
        "id": "DOID:0111814",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111814",
        "name": "methylmalonic acidemia and homocysteinemia cblX type",
        "description": "A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0111814",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111814",
            "name": "mental retardation, X-linked 3",
            "description": ""
        },
        {
            "id": "DOID:0111814",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111814",
            "name": "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX",
            "description": ""
        },
        {
            "id": "DOID:0111814",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111814",
            "name": "methylmalonic aciduria with homocystinuria, type cblX",
            "description": ""
        },
        {
            "id": "MONDO:0010657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010657",
            "name": "methylmalonic acidemia with homocystinuria, type cblX",
            "description": ""
        },
        {
            "id": "MONDO:0010657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010657",
            "name": "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX",
            "description": ""
        },
        {
            "id": "MONDO:0010657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010657",
            "name": "methylmalonic aciduria and homocysteinemia, cblx type, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010657",
            "name": "methylmalonic aciduria with homocystinuria, type cblX",
            "description": ""
        },
        {
            "id": "MONDO:0010657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010657",
            "name": "intellectual disability, X-linked 3",
            "description": ""
        },
        {
            "id": "MONDO:0010657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010657",
            "name": "mental retardation, X-linked 3",
            "description": ""
        },
        {
            "id": "MONDO:0010657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010657",
            "name": "methylmalonic acidemia and homocysteinemia type cblX",
            "description": ""
        },
        {
            "id": "MIM:309541",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309541",
            "name": "Methylmalonic aciduria and homocystinuria, cblX type",
            "description": "Methylmalonic aciduria and homocystinuria, cblX type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111814"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111814",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111814",
            "categories": []
        },
        {
            "id": "MONDO:0010657",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010657",
            "categories": []
        },
        {
            "id": "MIM:309541",
            "database": "MIM",
            "url": "https://www.omim.org/entry/309541",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8M9PQY4",
            "uniprot_id": "A0A8M9PQY4_DANRE",
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            "glycoprotein": "yes",
            "species": [
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Host cell factor 1",
                    "type": "recommended"
                },
                {
                    "name": "C1 factor",
                    "type": "synonym"
                },
                {
                    "name": "host cell factor 1b",
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                    "name": "hcfc1b",
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                    "name": "fc07b09",
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                    "name": "wu:fc07b09",
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                {
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                }
            ]
        },
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            "uniprot_ac": "Q61191",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
            ],
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                    "name": "Host cell factor 1",
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                    "name": "HCF",
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                {
                    "name": "VP16 accessory protein",
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                {
                    "name": "host cell factor 1 isoform 2 precursor",
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                    "name": "host cell factor 1",
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            ],
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                    "type": "recommended"
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                },
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                    "name": "Hcfc1",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Host cell factor 1",
                    "type": "recommended"
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                    "type": "synonym"
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                    "type": "synonym"
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                {
                    "name": "VP16 accessory protein",
                    "type": "synonym"
                },
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                    "name": "VP16-accessory protein",
                    "type": "synonym"
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                {
                    "name": "host cell factor 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "host cell factor 1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 89",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "HCFC1",
                    "type": "recommended"
                },
                {
                    "name": "CFF",
                    "type": "synonym"
                },
                {
                    "name": "HCF-1",
                    "type": "synonym"
                },
                {
                    "name": "HCF1",
                    "type": "synonym"
                },
                {
                    "name": "HCFC1",
                    "type": "synonym"
                },
                {
                    "name": "HCF",
                    "type": "synonym"
                },
                {
                    "name": "HFC1",
                    "type": "synonym"
                },
                {
                    "name": "MAHCX",
                    "type": "synonym"
                },
                {
                    "name": "MRX3",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R89",
                    "type": "synonym"
                },
                {
                    "name": "VCAF",
                    "type": "synonym"
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                {
                    "name": "XLID3",
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                }
            ],
            "record_id": "P51610-1",
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                    "url": "https://www.omim.org/entry/309541"
                },
                {
                    "id": "0111814",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111814"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38853-1",
            "uniprot_ac": "P38853",
            "uniprot_id": "KEL1_YEAST",
            "refseq_ac": "NP_012028",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Kelch repeat-containing protein 1",
                    "type": "recommended"
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                {
                    "name": "Kel1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KEL1",
                    "type": "recommended"
                },
                {
                    "name": "KEL1",
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                    "id": "0111814",
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                }
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            "uniprot_ac": "P50090",
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                }
            ],
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                {
                    "name": "Kelch repeat-containing protein 2",
                    "type": "recommended"
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                {
                    "name": "Kel2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KEL2",
                    "type": "recommended"
                },
                {
                    "name": "G8585",
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                },
                {
                    "name": "KEL2",
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            "uniprot_canonical_ac": "D3ZN95-1",
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            "refseq_ac": "",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
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                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
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            ],
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                    "name": "Host cell factor 1",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
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            ],
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                    "name": "Hcf",
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                    "name": "CG1710",
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                {
                    "name": "Dmel\\CG1710",
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                    "name": "HCF1",
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                    "name": "Hcf1",
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                    "name": "anon-WO0172774.48",
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                    "name": "dHCF",
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        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111814"
}