{
    "disease_id": "DOID:0090008",
    "recommended_name": {
        "id": "DOID:0090008",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090008",
        "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 1",
        "description": "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0090008",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090008",
            "name": "ICF syndrome 1",
            "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_list": [
        "DOID:0090008"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090008",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090008",
            "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": "A0A8M2BEF6-1",
            "uniprot_ac": "A0A8M2BEF6",
            "uniprot_id": "A0A8M2BEF6_DANRE",
            "refseq_ac": "XP_005167049",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA (cytosine-5-)-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "DNA (cytosine-5-)-methyltransferase 3 beta, duplicate a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnmt3ba",
                    "type": "recommended"
                },
                {
                    "name": "cb91",
                    "type": "synonym"
                },
                {
                    "name": "dnmt3b2",
                    "type": "synonym"
                },
                {
                    "name": "dnmt3ba",
                    "type": "synonym"
                },
                {
                    "name": "dnmt3bl",
                    "type": "synonym"
                },
                {
                    "name": "dnmt3b",
                    "type": "synonym"
                },
                {
                    "name": "dnmt7",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb91",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb16h07",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BEF6-1",
            "evidence": [
                {
                    "id": "0090008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32TCP6-1",
            "uniprot_ac": "A0AB32TCP6",
            "uniprot_id": "A0AB32TCP6_DANRE",
            "refseq_ac": "XP_068072770",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA (cytosine-5-)-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "DNA (cytosine-5-)-methyltransferase 3 beta, duplicate b.2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnmt3bb.2",
                    "type": "recommended"
                },
                {
                    "name": "Zmt3",
                    "type": "synonym"
                },
                {
                    "name": "dnmt3bb.2",
                    "type": "synonym"
                },
                {
                    "name": "dnmt3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa11d06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb73b09",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TCP6-1",
            "evidence": [
                {
                    "id": "0090008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88509-1",
            "uniprot_ac": "O88509",
            "uniprot_id": "DNM3B_MOUSE",
            "refseq_ac": "NP_001003960",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA (cytosine-5)-methyltransferase 3B",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "DNA (cytosine-5)-methyltransferase 3B isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA (cytosine-5)-methyltransferase 3B",
                    "type": "synonym"
                },
                {
                    "name": "DNA MTase MmuIIIB",
                    "type": "synonym"
                },
                {
                    "name": "DNA methyltransferase MmuIIIB",
                    "type": "synonym"
                },
                {
                    "name": "Dnmt3b",
                    "type": "synonym"
                },
                {
                    "name": "M.MmuIIIB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnmt3b",
                    "type": "recommended"
                },
                {
                    "name": "Dnmt3b",
                    "type": "synonym"
                },
                {
                    "name": "MmuIIIB",
                    "type": "synonym"
                }
            ],
            "record_id": "O88509-1",
            "evidence": [
                {
                    "id": "0090008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090008"
                }
            ]
        },
        {
            "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"
                },
                {
                    "id": "0090008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AVL3-1",
            "uniprot_ac": "A0A8I6AVL3",
            "uniprot_id": "A0A8I6AVL3_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": "DNA (cytosine-5)-methyltransferase 3B",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnmt3b",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AVL3-1",
            "evidence": [
                {
                    "id": "0090008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090008"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090008"
}