{
    "disease_id": "DOID:0050543",
    "recommended_name": {
        "id": "DOID:0050543",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050543",
        "name": "Charcot-Marie-Tooth disease intermediate type",
        "description": "A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s."
    },
    "synonyms": [
        {
            "id": "DOID:0050543",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050543",
            "name": "Charcot-Marie-Tooth disease dominant intermediate",
            "description": ""
        },
        {
            "id": "DOID:0050543",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050543",
            "name": "Charcot-Marie-Tooth disease recessive intermediate",
            "description": ""
        }
    ],
    "children": [
        {
            "id": "DOID:0080294",
            "label": "Charcot-Marie-Tooth disease dominant intermediate G",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110197",
            "label": "Charcot-Marie-Tooth disease dominant intermediate B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110198",
            "label": "Charcot-Marie-Tooth disease recessive intermediate C",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110199",
            "label": "Charcot-Marie-Tooth disease dominant intermediate C",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110200",
            "label": "Charcot-Marie-Tooth disease dominant intermediate D",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110201",
            "label": "Charcot-Marie-Tooth disease recessive intermediate A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110202",
            "label": "Charcot-Marie-Tooth disease dominant intermediate A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110203",
            "label": "Charcot-Marie-Tooth disease recessive intermediate D",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110204",
            "label": "Charcot-Marie-Tooth disease recessive intermediate B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110205",
            "label": "Charcot-Marie-Tooth disease dominant intermediate E",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110206",
            "label": "Charcot-Marie-Tooth disease dominant intermediate F",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0110197",
        "DOID:0080294",
        "DOID:0110199",
        "DOID:0110200",
        "DOID:0110206",
        "DOID:0110203",
        "DOID:0110198",
        "DOID:0110204",
        "DOID:0110205",
        "DOID:0110201",
        "DOID:0110202",
        "DOID:0050543"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050543",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050543",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A8Y5T1-1",
            "uniprot_ac": "A8Y5T1",
            "uniprot_id": "CF276_DANRE",
            "refseq_ac": "NP_001107082",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein CFAP276",
                    "type": "recommended"
                },
                {
                    "name": "Cilia- and flagella-associated protein 276",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein C1orf194 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein CFAP276",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cfap276",
                    "type": "recommended"
                },
                {
                    "name": "cfap276",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-163l21.7",
                    "type": "synonym"
                }
            ],
            "record_id": "A8Y5T1-1",
            "evidence": [
                {
                    "id": "0050543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DAD0-1",
            "uniprot_ac": "Q9DAD0",
            "uniprot_id": "CF276_MOUSE",
            "refseq_ac": "NP_083590",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 276",
                    "type": "recommended"
                },
                {
                    "name": "cilia- and flagella-associated protein 276",
                    "type": "synonym"
                },
                {
                    "name": "protein CFAP276",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C1orf194 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap276",
                    "type": "recommended"
                },
                {
                    "name": "1700013F07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cfap276",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DAD0-1",
            "evidence": [
                {
                    "id": "0050543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZNI7-1",
            "uniprot_ac": "D3ZNI7",
            "uniprot_id": "D3ZNI7_RAT",
            "refseq_ac": "NP_001128050",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia and flagella associated protein 276",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 276",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C1orf194 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap276",
                    "type": "recommended"
                },
                {
                    "name": "Cfap276",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309139",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZNI7-1",
            "evidence": [
                {
                    "id": "0050543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VK88-1",
            "uniprot_ac": "Q9VK88",
            "uniprot_id": "Q9VK88_DROME",
            "refseq_ac": "NP_001285873",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5435-PB",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BcDNA:AT11334",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT11334",
                    "type": "synonym"
                },
                {
                    "name": "CG5435",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5435",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5435",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VK88-1",
            "evidence": [
                {
                    "id": "0050543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T5A4-1",
            "uniprot_ac": "Q5T5A4",
            "uniprot_id": "CF276_HUMAN",
            "refseq_ac": "NP_001116433",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 276",
                    "type": "recommended"
                },
                {
                    "name": "cilia- and flagella-associated protein 276 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "protein CFAP276",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C1orf194",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP276",
                    "type": "recommended"
                },
                {
                    "name": "C10orf194",
                    "type": "synonym"
                },
                {
                    "name": "C1orf194",
                    "type": "synonym"
                },
                {
                    "name": "CFAP276",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T5A4-1",
            "evidence": [
                {
                    "id": "0050543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050543"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050543"
}