{
    "disease_id": "DOID:0110171",
    "recommended_name": {
        "id": "DOID:0110171",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110171",
        "name": "Charcot-Marie-Tooth disease axonal type 2S",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110171",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110171",
            "name": "CMT2S",
            "description": ""
        },
        {
            "id": "DOID:0110171",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110171",
            "name": "Charcot-Marie-Tooth disease type 2S",
            "description": ""
        },
        {
            "id": "DOID:0110171",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110171",
            "name": "Charcot-Marie-Tooth neuropathy type 2S",
            "description": ""
        },
        {
            "id": "DOID:0110171",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110171",
            "name": "autosomal recessive axonal Charcot-Marie-Tooth type 2S",
            "description": ""
        },
        {
            "id": "MONDO:0014511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "name": "Charcot-Marie-Tooth disease axonal type 2S",
            "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene."
        },
        {
            "id": "MONDO:0014511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "name": "CMT2S",
            "description": ""
        },
        {
            "id": "MONDO:0014511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "name": "Charcot-Marie-Tooth disease caused by mutation in IGHMBP2",
            "description": ""
        },
        {
            "id": "MONDO:0014511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "name": "Charcot-Marie-Tooth disease type 2S",
            "description": ""
        },
        {
            "id": "MONDO:0014511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "name": "IGHMBP2 Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0014511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2S",
            "description": ""
        },
        {
            "id": "MIM:616155",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616155",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2S",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2S"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110171"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110171",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110171",
            "categories": []
        },
        {
            "id": "MONDO:0014511",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "categories": []
        },
        {
            "id": "MIM:616155",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616155",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "M9MM98-1",
            "uniprot_ac": "M9MM98",
            "uniprot_id": "M9MM98_DANRE",
            "refseq_ac": "NP_001038365",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-binding protein SMUBP-2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase IGHMBP2",
                    "type": "synonym"
                },
                {
                    "name": "DNA-binding protein SMUBP-2",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin mu binding protein 2, like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ighmbp2",
                    "type": "recommended"
                },
                {
                    "name": "ighmbp2l",
                    "type": "synonym"
                },
                {
                    "name": "ighmbp2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-238n5.2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110400",
                    "type": "synonym"
                }
            ],
            "record_id": "M9MM98-1",
            "evidence": [
                {
                    "id": "0110171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40694-1",
            "uniprot_ac": "P40694",
            "uniprot_id": "SMBP2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-binding protein SMUBP-2",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "5.6.2.5",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase IGHMBP2",
                    "type": "synonym"
                },
                {
                    "name": "CATF1",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA and RNA 5'-3' helicase IGHMBP2",
                    "type": "synonym"
                },
                {
                    "name": "Immunoglobulin mu-binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ighmbp2",
                    "type": "recommended"
                },
                {
                    "name": "Smbp-2",
                    "type": "synonym"
                },
                {
                    "name": "Smbp2",
                    "type": "synonym"
                }
            ],
            "record_id": "P40694-1",
            "evidence": [
                {
                    "id": "0110171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38935-1",
            "uniprot_ac": "P38935",
            "uniprot_id": "SMBP2_HUMAN",
            "refseq_ac": "NP_002171",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-binding protein SMUBP-2",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "5.6.2.5",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase IGHMBP2",
                    "type": "synonym"
                },
                {
                    "name": "DNA and RNA 5'-3' helicase IGHMBP2",
                    "type": "synonym"
                },
                {
                    "name": "DNA-binding protein SMUBP-2",
                    "type": "synonym"
                },
                {
                    "name": "GF-1",
                    "type": "synonym"
                },
                {
                    "name": "Glial factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Immunoglobulin mu-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "cardiac transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "glial factor 1",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin mu binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, AN1-type domain 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IGHMBP2",
                    "type": "recommended"
                },
                {
                    "name": "CATF1",
                    "type": "synonym"
                },
                {
                    "name": "CMT2S",
                    "type": "synonym"
                },
                {
                    "name": "HCSA",
                    "type": "synonym"
                },
                {
                    "name": "HMN6",
                    "type": "synonym"
                },
                {
                    "name": "HMNR1",
                    "type": "synonym"
                },
                {
                    "name": "IGHMBP2",
                    "type": "synonym"
                },
                {
                    "name": "SMARD1",
                    "type": "synonym"
                },
                {
                    "name": "SMBP2",
                    "type": "synonym"
                },
                {
                    "name": "SMUBP2",
                    "type": "synonym"
                },
                {
                    "name": "ZFAND7",
                    "type": "synonym"
                }
            ],
            "record_id": "P38935-1",
            "evidence": [
                {
                    "id": "616155",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616155"
                },
                {
                    "id": "0110171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34243-1",
            "uniprot_ac": "P34243",
            "uniprot_id": "HCS1_YEAST",
            "refseq_ac": "NP_012908",
            "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": "DNA polymerase alpha-associated DNA helicase A",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent 5'-3' DNA helicase HCS1",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HCS1",
                    "type": "recommended"
                },
                {
                    "name": "DIP1",
                    "type": "synonym"
                },
                {
                    "name": "HCS1",
                    "type": "synonym"
                }
            ],
            "record_id": "P34243-1",
            "evidence": [
                {
                    "id": "0110171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EQN5-1",
            "uniprot_ac": "Q9EQN5",
            "uniprot_id": "SMBP2_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-binding protein SMUBP-2",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "5.6.2.5",
                    "type": "synonym"
                },
                {
                    "name": "AEP",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase IGHMBP2",
                    "type": "synonym"
                },
                {
                    "name": "Antifreeze enhancer-binding protein ortholog",
                    "type": "synonym"
                },
                {
                    "name": "DNA and RNA 5'-3' helicase IGHMBP2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ighmbp2",
                    "type": "recommended"
                },
                {
                    "name": "Smbp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQN5-1",
            "evidence": [
                {
                    "id": "0110171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110171"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110171"
}