{
    "disease_id": "DOID:0110181",
    "recommended_name": {
        "id": "DOID:0110181",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110181",
        "name": "Charcot-Marie-Tooth disease axonal type 2Z",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110181",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110181",
            "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z",
            "description": ""
        },
        {
            "id": "DOID:0110181",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110181",
            "name": "CMT2Z",
            "description": ""
        },
        {
            "id": "DOID:0110181",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110181",
            "name": "Charcot-Marie-Tooth neuropathy type 2Z",
            "description": ""
        },
        {
            "id": "MONDO:0014736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014736",
            "name": "Charcot-Marie-Tooth disease axonal type 2Z",
            "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene."
        },
        {
            "id": "MONDO:0014736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014736",
            "name": "CMT2Z",
            "description": ""
        },
        {
            "id": "MONDO:0014736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014736",
            "name": "Charcot-Marie-Tooth disease caused by mutation in MORC2",
            "description": ""
        },
        {
            "id": "MONDO:0014736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014736",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2z",
            "description": ""
        },
        {
            "id": "MONDO:0014736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014736",
            "name": "MORC2 Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0014736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014736",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation",
            "description": ""
        },
        {
            "id": "MIM:616688",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616688",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2Z",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2Z"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110181"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110181",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110181",
            "categories": []
        },
        {
            "id": "MONDO:0014736",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014736",
            "categories": []
        },
        {
            "id": "MIM:616688",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616688",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q69ZX6-1",
            "uniprot_ac": "Q69ZX6",
            "uniprot_id": "MOR2A_MOUSE",
            "refseq_ac": "NP_001152760",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATPase MORC2A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "ATPase MORC2A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase MORC2A",
                    "type": "synonym"
                },
                {
                    "name": "MORC family CW-type zinc finger protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger CW-type coiled-coil domain protein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger CW-type coiled-coil domain protein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, CW-type with coiled-coil domain 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Morc2a",
                    "type": "recommended"
                },
                {
                    "name": "8430403M08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0852",
                    "type": "synonym"
                },
                {
                    "name": "Morc2a",
                    "type": "synonym"
                },
                {
                    "name": "Zcwcc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q69ZX6-1",
            "evidence": [
                {
                    "id": "0110181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C5W4-1",
            "uniprot_ac": "Q8C5W4",
            "uniprot_id": "MOR2B_MOUSE",
            "refseq_ac": "NP_808387",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATPase MORC2B",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "ATPase MORC2B",
                    "type": "synonym"
                },
                {
                    "name": "MORC family CW-type zinc finger protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "Morc-like protein",
                    "type": "synonym"
                },
                {
                    "name": "TCE6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Morc2b",
                    "type": "recommended"
                },
                {
                    "name": "4932411A10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Morc2b",
                    "type": "synonym"
                },
                {
                    "name": "Tce6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C5W4-1",
            "evidence": [
                {
                    "id": "0110181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6X9-1",
            "uniprot_ac": "Q9Y6X9",
            "uniprot_id": "MORC2_HUMAN",
            "refseq_ac": "NP_001290185",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATPase MORC2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "ATPase MORC2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase MORC2",
                    "type": "synonym"
                },
                {
                    "name": "MORC family CW-type zinc finger protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger CW-type coiled-coil domain protein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger CW-type coiled-coil domain protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MORC2",
                    "type": "recommended"
                },
                {
                    "name": "CMT2Z",
                    "type": "synonym"
                },
                {
                    "name": "DIGFAN",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0852",
                    "type": "synonym"
                },
                {
                    "name": "MORC2",
                    "type": "synonym"
                },
                {
                    "name": "ZCW3",
                    "type": "synonym"
                },
                {
                    "name": "ZCWCC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6X9-1",
            "evidence": [
                {
                    "id": "616688",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616688"
                },
                {
                    "id": "0110181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JWF7-1",
            "uniprot_ac": "A0A0G2JWF7",
            "uniprot_id": "A0A0G2JWF7_RAT",
            "refseq_ac": "NP_001402037",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATPase MORC2",
                    "type": "synonym"
                },
                {
                    "name": "MORC family CW-type zinc finger 2",
                    "type": "synonym"
                },
                {
                    "name": "MORC family CW-type zinc finger protein 2",
                    "type": "synonym"
                },
                {
                    "name": "microrchidia 2A",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, CW-type with coiled-coil domain 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Morc2",
                    "type": "recommended"
                },
                {
                    "name": "Morc2a",
                    "type": "synonym"
                },
                {
                    "name": "Morc2",
                    "type": "synonym"
                },
                {
                    "name": "Zcwcc1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JWF7-1",
            "evidence": [
                {
                    "id": "0110181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A8J3-1",
            "uniprot_ac": "D4A8J3",
            "uniprot_id": "D4A8J3_RAT",
            "refseq_ac": "NP_001100234",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "MORC family CW-type zinc finger protein 2B-like",
                    "type": "synonym"
                },
                {
                    "name": "MORC family CW-type zinc finger protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "Microrchidia 2B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Morc2b",
                    "type": "recommended"
                },
                {
                    "name": "Morc2b",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564020",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A8J3-1",
            "evidence": [
                {
                    "id": "0110181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110181"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110181"
}