{
    "disease_id": "DOID:0090011",
    "recommended_name": {
        "id": "DOID:0090011",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090011",
        "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 4",
        "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 or compound heterozygous mutation in the HELLS gene on chromosome 10q23."
    },
    "synonyms": [
        {
            "id": "DOID:0090011",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090011",
            "name": "ICF syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0014829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014829",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 4",
            "description": "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene."
        },
        {
            "id": "MONDO:0014829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014829",
            "name": "HELLS immunodeficiency-centromeric instability-facial anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014829",
            "name": "immunodeficiency-centromeric instability-Facial anomalies syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0014829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014829",
            "name": "immunodeficiency-centromeric instability-Facial anomalies syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014829",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS",
            "description": ""
        },
        {
            "id": "MONDO:0014829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014829",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014829",
            "name": "ICF4",
            "description": ""
        },
        {
            "id": "MIM:616911",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616911",
            "name": "Immunodeficiency-centromeric instability-facial anomalies syndrome 4",
            "description": "Immunodeficiency-centromeric instability-facial anomalies syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090011"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090011",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090011",
            "categories": []
        },
        {
            "id": "MONDO:0014829",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014829",
            "categories": []
        },
        {
            "id": "MIM:616911",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616911",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q60848-1",
            "uniprot_ac": "Q60848",
            "uniprot_id": "HELLS_MOUSE",
            "refseq_ac": "NP_032260",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lymphocyte-specific helicase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Proliferation-associated SNF2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte-specific helicase",
                    "type": "synonym"
                },
                {
                    "name": "proliferation-associated SNF2-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hells",
                    "type": "recommended"
                },
                {
                    "name": "E130115I21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hells",
                    "type": "synonym"
                },
                {
                    "name": "LSH",
                    "type": "synonym"
                },
                {
                    "name": "Lsh",
                    "type": "synonym"
                },
                {
                    "name": "Lysh",
                    "type": "synonym"
                },
                {
                    "name": "PASG",
                    "type": "synonym"
                },
                {
                    "name": "Pasg",
                    "type": "synonym"
                },
                {
                    "name": "YFK8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60848-1",
            "evidence": [
                {
                    "id": "0090011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NRZ9-1",
            "uniprot_ac": "Q9NRZ9",
            "uniprot_id": "HELLS_HUMAN",
            "refseq_ac": "NP_001275996",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lymphoid-specific helicase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "LSH",
                    "type": "synonym"
                },
                {
                    "name": "Proliferation-associated SNF2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "SMARCA6",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6",
                    "type": "synonym"
                },
                {
                    "name": "Senescence Associated Long Non-coding RNA",
                    "type": "synonym"
                },
                {
                    "name": "lymphoid-specific helicase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "proliferation-associated SNF2-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HELLS",
                    "type": "recommended"
                },
                {
                    "name": "HELLS",
                    "type": "synonym"
                },
                {
                    "name": "ICF4",
                    "type": "synonym"
                },
                {
                    "name": "LSH",
                    "type": "synonym"
                },
                {
                    "name": "Nbla10143",
                    "type": "synonym"
                },
                {
                    "name": "PASG",
                    "type": "synonym"
                },
                {
                    "name": "SALNR",
                    "type": "synonym"
                },
                {
                    "name": "SMARCA6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NRZ9-1",
            "evidence": [
                {
                    "id": "616911",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616911"
                },
                {
                    "id": "0090011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43610-1",
            "uniprot_ac": "P43610",
            "uniprot_id": "IRC5_YEAST",
            "refseq_ac": "NP_116696",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized ATP-dependent helicase IRC5",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Increased recombination centers protein 5",
                    "type": "synonym"
                },
                {
                    "name": "putative ATPase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IRC5",
                    "type": "recommended"
                },
                {
                    "name": "IRC5",
                    "type": "synonym"
                }
            ],
            "record_id": "P43610-1",
            "evidence": [
                {
                    "id": "0090011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K7M6-1",
            "uniprot_ac": "A0A0G2K7M6",
            "uniprot_id": "A0A0G2K7M6_RAT",
            "refseq_ac": "NP_001099841",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proliferation-associated SNF2-like protein",
                    "type": "recommended"
                },
                {
                    "name": "TBC1D12: TBC1 domain family, member 12",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte-specific helicase-like",
                    "type": "synonym"
                },
                {
                    "name": "lymphoid-specific helicase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hells",
                    "type": "recommended"
                },
                {
                    "name": "Hells",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K7M6-1",
            "evidence": [
                {
                    "id": "0090011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090011"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090011"
}