{
    "disease_id": "DOID:0090010",
    "recommended_name": {
        "id": "DOID:0090010",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090010",
        "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 3",
        "description": "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0090010",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090010",
            "name": "ICF syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0014828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014828",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 3",
            "description": "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene."
        },
        {
            "id": "MONDO:0014828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014828",
            "name": "CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014828",
            "name": "immunodeficiency-centromeric instability-Facial anomalies syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0014828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014828",
            "name": "immunodeficiency-centromeric instability-Facial anomalies syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014828",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7",
            "description": ""
        },
        {
            "id": "MONDO:0014828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014828",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014828",
            "name": "ICF3",
            "description": ""
        },
        {
            "id": "MIM:616910",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616910",
            "name": "Immunodeficiency-centromeric instability-facial anomalies syndrome 3",
            "description": "Immunodeficiency-centromeric instability-facial anomalies syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090010"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090010",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090010",
            "categories": []
        },
        {
            "id": "MONDO:0014828",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014828",
            "categories": []
        },
        {
            "id": "MIM:616910",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616910",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BET8-1",
            "uniprot_ac": "A0A8M2BET8",
            "uniprot_id": "A0A8M2BET8_DANRE",
            "refseq_ac": "XP_005167472",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cell division cycle-associated protein 7a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle-associated protein 7a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cdca7a",
                    "type": "recommended"
                },
                {
                    "name": "cdca7a",
                    "type": "synonym"
                },
                {
                    "name": "cdca7",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb590",
                    "type": "synonym"
                },
                {
                    "name": "sr:nyz142",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110113",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BET8-1",
            "evidence": [
                {
                    "id": "0090010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D0M2-1",
            "uniprot_ac": "Q9D0M2",
            "uniprot_id": "CDCA7_MOUSE",
            "refseq_ac": "NP_080142",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cell division cycle-associated protein 7",
                    "type": "recommended"
                },
                {
                    "name": "c-Myc target JPO1",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle-associated protein 7 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle-associated protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdca7",
                    "type": "recommended"
                },
                {
                    "name": "2310021G01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cdca7",
                    "type": "synonym"
                },
                {
                    "name": "JPO1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D0M2-1",
            "evidence": [
                {
                    "id": "0090010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BWT1-1",
            "uniprot_ac": "Q9BWT1",
            "uniprot_id": "CDCA7_HUMAN",
            "refseq_ac": "NP_114148",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cell division cycle-associated protein 7",
                    "type": "recommended"
                },
                {
                    "name": "Protein JPO1",
                    "type": "synonym"
                },
                {
                    "name": "c-Myc target JPO1",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle-associated protein 7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle-associated protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDCA7",
                    "type": "recommended"
                },
                {
                    "name": "CDCA7",
                    "type": "synonym"
                },
                {
                    "name": "ICF3",
                    "type": "synonym"
                },
                {
                    "name": "JPO1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BWT1-1",
            "evidence": [
                {
                    "id": "616910",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616910"
                },
                {
                    "id": "0090010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KM91-1",
            "uniprot_ac": "Q4KM91",
            "uniprot_id": "CDCA7_RAT",
            "refseq_ac": "NP_001020864",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cell division cycle-associated protein 7",
                    "type": "recommended"
                },
                {
                    "name": "cell division cycle-associated protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdca7",
                    "type": "recommended"
                },
                {
                    "name": "Cdca7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KM91-1",
            "evidence": [
                {
                    "id": "0090010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090010"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090010"
}