{
    "disease_id": "DOID:0090068",
    "recommended_name": {
        "id": "DOID:0090068",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090068",
        "name": "giant axonal neuropathy 1",
        "description": "An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "giant axonal neuropathy 1",
            "description": "Giant axonal neuropathy (GAN) is a degenerative disorder that is characterized by a progressive motor and sensitive peripheral and central nervous system neuropathy."
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "GAN",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "GAN giant axonal neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "gan",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "gan giant axonal neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "giant axonal neuropathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "giant axonal neuropathy caused by mutation in GAN",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "giant axonal neuropathy caused by mutation in gan",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "giant axonal neuropathy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "giant axonal neuropathy-1",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "GAN1",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "giant axonal neuropathy 1, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "neuropathy, giant axonal",
            "description": ""
        },
        {
            "id": "MIM:256850",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256850",
            "name": "Giant axonal neuropathy 1, autosomal recessive",
            "description": "Giant axonal neuropathy 1, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090068"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090068",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090068",
            "categories": []
        },
        {
            "id": "MONDO:0009749",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "categories": []
        },
        {
            "id": "MIM:256850",
            "database": "MIM",
            "url": "https://www.omim.org/entry/256850",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CA72-1",
            "uniprot_ac": "Q8CA72",
            "uniprot_id": "GAN_MOUSE",
            "refseq_ac": "NP_001074620",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gigaxonin",
                    "type": "recommended"
                },
                {
                    "name": "gigaxonin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gan",
                    "type": "recommended"
                },
                {
                    "name": "A330045G18",
                    "type": "synonym"
                },
                {
                    "name": "Gan",
                    "type": "synonym"
                },
                {
                    "name": "gigaxonin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CA72-1",
            "evidence": [
                {
                    "id": "0090068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090068"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H2C0-1",
            "uniprot_ac": "Q9H2C0",
            "uniprot_id": "GAN_HUMAN",
            "refseq_ac": "NP_071324",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gigaxonin",
                    "type": "recommended"
                },
                {
                    "name": "Kelch-like protein 16",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "gigaxonin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like family member 16",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GAN",
                    "type": "recommended"
                },
                {
                    "name": "GAN1",
                    "type": "synonym"
                },
                {
                    "name": "GAN",
                    "type": "synonym"
                },
                {
                    "name": "GIG",
                    "type": "synonym"
                },
                {
                    "name": "KLHL16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H2C0-1",
            "evidence": [
                {
                    "id": "256850",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/256850"
                },
                {
                    "id": "0090068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090068"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LN48-1",
            "uniprot_ac": "A0ABK0LN48",
            "uniprot_id": "A0ABK0LN48_RAT",
            "refseq_ac": "NP_001401868",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gigaxonin",
                    "type": "recommended"
                },
                {
                    "name": "giant axonal neuropathy",
                    "type": "synonym"
                },
                {
                    "name": "gigaxonin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gan",
                    "type": "recommended"
                },
                {
                    "name": "Gan",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LN48-1",
            "evidence": [
                {
                    "id": "0090068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090068"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090068"
}