{
    "disease_id": "DOID:0110154",
    "recommended_name": {
        "id": "DOID:0110154",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110154",
        "name": "Charcot-Marie-Tooth disease type 2A1",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0110154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110154",
            "name": "CMT2A1",
            "description": ""
        },
        {
            "id": "DOID:0110154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110154",
            "name": "Charcot-Marie-Tooth disease neuronal type 2A1",
            "description": ""
        },
        {
            "id": "DOID:0110154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110154",
            "name": "Charcot-Marie-Tooth neuropathy type 2A1",
            "description": ""
        },
        {
            "id": "DOID:0110154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110154",
            "name": "HMSN IIA1",
            "description": ""
        },
        {
            "id": "DOID:0110154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110154",
            "name": "HMSN2A1",
            "description": ""
        },
        {
            "id": "DOID:0110154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110154",
            "name": "hereditary motor and sensory neuropathy IIA1",
            "description": ""
        },
        {
            "id": "DOID:0110154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110154",
            "name": "autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease type 2A1",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor."
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "CMT2A",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "CMT2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease type 2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease, type 2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "HMSN IIA1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "HMSN2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "KIF1B Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "hereditary motor and sensory neuropathy IIA1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "CMT 2A",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot Marie Tooth disease type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease, neuronal, type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "HMSN IIA",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "hereditary motor and sensory neuropathy 2 A",
            "description": ""
        },
        {
            "id": "MIM:118210",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/118210",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2A1",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2A1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110154"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110154",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110154",
            "categories": []
        },
        {
            "id": "MONDO:0007308",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "categories": []
        },
        {
            "id": "MIM:118210",
            "database": "MIM",
            "url": "https://www.omim.org/entry/118210",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TD35-1",
            "uniprot_ac": "A0AB32TD35",
            "uniprot_id": "A0AB32TD35_DANRE",
            "refseq_ac": "XP_068072796",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "plus-end-directed kinesin ATPase",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.3",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF1B isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kif1b",
                    "type": "recommended"
                },
                {
                    "name": "kif1b",
                    "type": "synonym"
                },
                {
                    "name": "unm_st43",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb74c11",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TD35-1",
            "evidence": [
                {
                    "id": "0110154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110154"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60575-1",
            "uniprot_ac": "Q60575",
            "uniprot_id": "KIF1B_MOUSE",
            "refseq_ac": "NP_001277924",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF1B",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.3",
                    "type": "synonym"
                },
                {
                    "name": "N-3 kinesin",
                    "type": "synonym"
                },
                {
                    "name": "kinesin heavy chain member 1B",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF1B isoform c",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif1b",
                    "type": "recommended"
                },
                {
                    "name": "A530096N05Rik",
                    "type": "synonym"
                },
                {
                    "name": "D4Mil1e",
                    "type": "synonym"
                },
                {
                    "name": "KIF1Bp130",
                    "type": "synonym"
                },
                {
                    "name": "KIF1Bp204",
                    "type": "synonym"
                },
                {
                    "name": "Kif1b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60575-1",
            "evidence": [
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                    "id": "0110154",
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            ]
        },
        {
            "uniprot_canonical_ac": "O60333-1",
            "uniprot_ac": "O60333",
            "uniprot_id": "KIF1B_HUMAN",
            "refseq_ac": "NP_055889",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF1B",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Charcot-Marie-Tooth neuropathy type II",
                    "type": "synonym"
                },
                {
                    "name": "Klp",
                    "type": "synonym"
                },
                {
                    "name": "kinesin superfamily protein KIF1B",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF1B isoform b",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF1B",
                    "type": "recommended"
                },
                {
                    "name": "CMT2A1",
                    "type": "synonym"
                },
                {
                    "name": "CMT2A",
                    "type": "synonym"
                },
                {
                    "name": "CMT2",
                    "type": "synonym"
                },
                {
                    "name": "HMSNII",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0591",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1448",
                    "type": "synonym"
                },
                {
                    "name": "KIF1B",
                    "type": "synonym"
                },
                {
                    "name": "KLP",
                    "type": "synonym"
                },
                {
                    "name": "NBLST1",
                    "type": "synonym"
                }
            ],
            "record_id": "O60333-1",
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                {
                    "id": "118210",
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                    "url": "https://www.omim.org/entry/118210"
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                    "id": "0110154",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110154"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88658-1",
            "uniprot_ac": "O88658",
            "uniprot_id": "KIF1B_RAT",
            "refseq_ac": "NP_476548",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF1B",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.3",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-family protein KIF1Bbeta3",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif1b",
                    "type": "recommended"
                },
                {
                    "name": "Pgd",
                    "type": "recommended"
                },
                {
                    "name": "Kif1b",
                    "type": "synonym"
                },
                {
                    "name": "Pgd",
                    "type": "synonym"
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            "record_id": "O88658-1",
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                    "id": "0110154",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAJ2-1",
            "uniprot_ac": "A1ZAJ2",
            "uniprot_id": "KIF1A_DROME",
            "refseq_ac": "NP_001097346",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein unc-104",
                    "type": "recommended"
                },
                {
                    "name": "CG8566-PE",
                    "type": "synonym"
                },
                {
                    "name": "D uncoordinated protein 104",
                    "type": "synonym"
                },
                {
                    "name": "DUnc104",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin4B",
                    "type": "synonym"
                },
                {
                    "name": "Protein immaculate connections",
                    "type": "synonym"
                },
                {
                    "name": "bristly",
                    "type": "synonym"
                },
                {
                    "name": "immaculate connections",
                    "type": "synonym"
                },
                {
                    "name": "kinesin 3",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-3",
                    "type": "synonym"
                },
                {
                    "name": "unc-104 ortholog",
                    "type": "synonym"
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                {
                    "name": "unc-104-PE",
                    "type": "synonym"
                },
                {
                    "name": "uncoordinated 104",
                    "type": "synonym"
                },
                {
                    "name": "uncoordinated-104, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "unc-104",
                    "type": "recommended"
                },
                {
                    "name": "1B",
                    "type": "synonym"
                },
                {
                    "name": "CG8566",
                    "type": "synonym"
                },
                {
                    "name": "DUNC104",
                    "type": "synonym"
                },
                {
                    "name": "DUnc-104",
                    "type": "synonym"
                },
                {
                    "name": "DmCG8566",
                    "type": "synonym"
                },
                {
                    "name": "DmDUnc104",
                    "type": "synonym"
                },
                {
                    "name": "DmKlp53D",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8566",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8566",
                    "type": "synonym"
                },
                {
                    "name": "Dunc104",
                    "type": "synonym"
                },
                {
                    "name": "Imac",
                    "type": "synonym"
                },
                {
                    "name": "KIF 1B",
                    "type": "synonym"
                },
                {
                    "name": "KIF1A/1B",
                    "type": "synonym"
                },
                {
                    "name": "KIF1A",
                    "type": "synonym"
                },
                {
                    "name": "Kif1a",
                    "type": "synonym"
                },
                {
                    "name": "Klp53D",
                    "type": "synonym"
                },
                {
                    "name": "Unc-104",
                    "type": "synonym"
                },
                {
                    "name": "Unc104",
                    "type": "synonym"
                },
                {
                    "name": "bris",
                    "type": "synonym"
                },
                {
                    "name": "imac",
                    "type": "synonym"
                },
                {
                    "name": "kif1a",
                    "type": "synonym"
                },
                {
                    "name": "unc-104",
                    "type": "synonym"
                },
                {
                    "name": "unc104",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAJ2-1",
            "evidence": [
                {
                    "id": "0110154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110154"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110154"
}