{
    "disease_id": "DOID:0090007",
    "recommended_name": {
        "id": "DOID:0090007",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090007",
        "name": "immunodeficiency-centromeric instability-facial anomalies syndrome",
        "description": "A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases."
    },
    "synonyms": [
        {
            "id": "DOID:0090007",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090007",
            "name": "ICF syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009454",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009454",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 1",
            "description": "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene."
        },
        {
            "id": "MONDO:0009454",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009454",
            "name": "DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009454",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009454",
            "name": "immunodeficiency-centromeric instability-Facial anomalies syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009454",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009454",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009454",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009454",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B",
            "description": ""
        },
        {
            "id": "MONDO:0009454",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009454",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009454",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009454",
            "name": "ICF1",
            "description": ""
        },
        {
            "id": "MIM:242860",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/242860",
            "name": "Immunodeficiency-centromeric instability-facial anomalies syndrome 1",
            "description": "Immunodeficiency-centromeric instability-facial anomalies syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0090008",
            "label": "immunodeficiency-centromeric instability-facial anomalies syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090009",
            "label": "immunodeficiency-centromeric instability-facial anomalies syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090010",
            "label": "immunodeficiency-centromeric instability-facial anomalies syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090011",
            "label": "immunodeficiency-centromeric instability-facial anomalies syndrome 4",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0090009",
        "DOID:0090010",
        "DOID:0090007",
        "DOID:0090011",
        "DOID:0090008"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090007",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090007",
            "categories": []
        },
        {
            "id": "MONDO:0009454",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009454",
            "categories": []
        },
        {
            "id": "MIM:242860",
            "database": "MIM",
            "url": "https://www.omim.org/entry/242860",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q52KB5-1",
            "uniprot_ac": "Q52KB5",
            "uniprot_id": "ZBT24_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger and BTB domain-containing protein 24",
                    "type": "recommended"
                },
                {
                    "name": "Zinc finger protein 450",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zbtb24",
                    "type": "recommended"
                },
                {
                    "name": "zfp450",
                    "type": "synonym"
                },
                {
                    "name": "zgc:194556",
                    "type": "synonym"
                }
            ],
            "record_id": "Q52KB5-1",
            "evidence": [
                {
                    "id": "0090007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80X44-1",
            "uniprot_ac": "Q80X44",
            "uniprot_id": "ZBT24_MOUSE",
            "refseq_ac": "NP_001264158",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger and BTB domain-containing protein 24",
                    "type": "recommended"
                },
                {
                    "name": "BMP-induced factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein-induced factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Brain-specific protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 450",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein-induced factor 1",
                    "type": "synonym"
                },
                {
                    "name": "brain specific protein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 24 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 24",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 450",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zbtb24",
                    "type": "recommended"
                },
                {
                    "name": "Bif1",
                    "type": "synonym"
                },
                {
                    "name": "Bsg1",
                    "type": "synonym"
                },
                {
                    "name": "ZNF450",
                    "type": "synonym"
                },
                {
                    "name": "Zbtb24",
                    "type": "synonym"
                },
                {
                    "name": "Znf450",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80X44-1",
            "evidence": [
                {
                    "id": "0090007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBC3-1",
            "uniprot_ac": "Q9UBC3",
            "uniprot_id": "DNM3B_HUMAN",
            "refseq_ac": "NP_001193984",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA (cytosine-5)-methyltransferase 3B",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "DNA (cytosine-5)-methyltransferase 3B isoform 7",
                    "type": "synonym"
                },
                {
                    "name": "DNA (cytosine-5)-methyltransferase 3B",
                    "type": "synonym"
                },
                {
                    "name": "DNA (cytosine-5-)-methyltransferase 3 beta",
                    "type": "synonym"
                },
                {
                    "name": "DNA MTase HsaIIIB",
                    "type": "synonym"
                },
                {
                    "name": "DNA cytosine-5--methyltransferase 3 beta",
                    "type": "synonym"
                },
                {
                    "name": "DNA methyltransferase HsaIIIB",
                    "type": "synonym"
                },
                {
                    "name": "Dnmt3b",
                    "type": "synonym"
                },
                {
                    "name": "M.HsaIIIB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNMT3B",
                    "type": "recommended"
                },
                {
                    "name": "DNMT3B",
                    "type": "synonym"
                },
                {
                    "name": "FSHD4",
                    "type": "synonym"
                },
                {
                    "name": "ICF1",
                    "type": "synonym"
                },
                {
                    "name": "ICF",
                    "type": "synonym"
                },
                {
                    "name": "M.HsaIIIB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBC3-1",
            "evidence": [
                {
                    "id": "242860",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/242860"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3B725-1",
            "uniprot_ac": "Q3B725",
            "uniprot_id": "ZBT24_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger and BTB domain-containing protein 24",
                    "type": "recommended"
                },
                {
                    "name": "Bone morphogenetic protein-induced factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 450",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zbtb24",
                    "type": "recommended"
                },
                {
                    "name": "Bif1",
                    "type": "synonym"
                },
                {
                    "name": "Znf450",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3B725-1",
            "evidence": [
                {
                    "id": "0090007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43167-1",
            "uniprot_ac": "O43167",
            "uniprot_id": "ZBT24_HUMAN",
            "refseq_ac": "NP_001157785",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger and BTB domain-containing protein 24",
                    "type": "recommended"
                },
                {
                    "name": "POZ (BTB) and AT hook containing zinc finger 2",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 450",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 24 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 450",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZBTB24",
                    "type": "recommended"
                },
                {
                    "name": "BIF1",
                    "type": "synonym"
                },
                {
                    "name": "ICF2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0441",
                    "type": "synonym"
                },
                {
                    "name": "PATZ2",
                    "type": "synonym"
                },
                {
                    "name": "ZBTB24",
                    "type": "synonym"
                },
                {
                    "name": "ZNF450",
                    "type": "synonym"
                }
            ],
            "record_id": "O43167-1",
            "evidence": [
                {
                    "id": "0090007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090007"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090007"
}