{
    "disease_id": "DOID:0090069",
    "recommended_name": {
        "id": "DOID:0090069",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090069",
        "name": "giant axonal neuropathy 2",
        "description": "An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "giant axonal neuropathy 2",
            "description": "Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene."
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "CMT2 with giant axons",
            "description": ""
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "DCAF8 giant axonal neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "HMSN2 with giant axons",
            "description": ""
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons",
            "description": ""
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "giant axonal neuropathy caused by mutation in DCAF8",
            "description": ""
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "giant axonal neuropathy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "GAN2",
            "description": ""
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "giant axonal neuropathy 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:610100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610100",
            "name": "Giant axonal neuropathy 2, autosomal dominant",
            "description": "Giant axonal neuropathy 2, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090069"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090069",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090069",
            "categories": []
        },
        {
            "id": "MONDO:0012411",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "categories": []
        },
        {
            "id": "MIM:610100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QF18-1",
            "uniprot_ac": "F1QF18",
            "uniprot_id": "F1QF18_DANRE",
            "refseq_ac": "XP_021326944",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DDB1- and CUL4-associated factor 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dcaf8",
                    "type": "recommended"
                },
                {
                    "name": "dcaf8",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QF18-1",
            "evidence": [
                {
                    "id": "0090069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090069"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N7N5-1",
            "uniprot_ac": "Q8N7N5",
            "uniprot_id": "DCAF8_MOUSE",
            "refseq_ac": "NP_705783",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DDB1- and CUL4-associated factor 8",
                    "type": "recommended"
                },
                {
                    "name": "DDB1- and CUL4-associated factor 8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 42A",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 42A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dcaf8",
                    "type": "recommended"
                },
                {
                    "name": "D1Dau35e",
                    "type": "synonym"
                },
                {
                    "name": "D1Ucla4",
                    "type": "synonym"
                },
                {
                    "name": "Dcaf8",
                    "type": "synonym"
                },
                {
                    "name": "H326",
                    "type": "synonym"
                },
                {
                    "name": "Wdr42a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N7N5-1",
            "evidence": [
                {
                    "id": "0090069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090069"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5TAQ9-1",
            "uniprot_ac": "Q5TAQ9",
            "uniprot_id": "DCAF8_HUMAN",
            "refseq_ac": "NP_056541",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DDB1- and CUL4-associated factor 8",
                    "type": "recommended"
                },
                {
                    "name": "DDB1- and CUL4-associated factor 8",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 42A",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 42A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DCAF8",
                    "type": "recommended"
                },
                {
                    "name": "DCAF8",
                    "type": "synonym"
                },
                {
                    "name": "GAN2",
                    "type": "synonym"
                },
                {
                    "name": "H326",
                    "type": "synonym"
                },
                {
                    "name": "WDR42A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TAQ9-1",
            "evidence": [
                {
                    "id": "610100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610100"
                },
                {
                    "id": "0090069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090069"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U2M6-1",
            "uniprot_ac": "Q5U2M6",
            "uniprot_id": "DCAF8_RAT",
            "refseq_ac": "NP_001014253",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DDB1- and CUL4-associated factor 8",
                    "type": "recommended"
                },
                {
                    "name": "DDB1- and CUL4-associated factor 8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 42A",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 42A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dcaf8",
                    "type": "recommended"
                },
                {
                    "name": "Dcaf8",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308513",
                    "type": "synonym"
                },
                {
                    "name": "Wdr42a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U2M6-1",
            "evidence": [
                {
                    "id": "0090069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090069"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W091-1",
            "uniprot_ac": "Q9W091",
            "uniprot_id": "Q9W091_DROME",
            "refseq_ac": "NP_001261283",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DDB1- and CUL4-associated factor 8",
                    "type": "recommended"
                },
                {
                    "name": "CG8001-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG8001",
                    "type": "recommended"
                },
                {
                    "name": "CG8001",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8001",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8001",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W091-1",
            "evidence": [
                {
                    "id": "0090069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090069"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090069"
}