{
    "disease_id": "DOID:0080252",
    "recommended_name": {
        "id": "DOID:0080252",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080252",
        "name": "spastic ataxia 8",
        "description": "A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0033043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033043",
            "name": "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0033043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033043",
            "name": "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0033043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033043",
            "name": "SPAX8",
            "description": ""
        },
        {
            "id": "MIM:617560",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617560",
            "name": "Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy",
            "description": "Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080252"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080252",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080252",
            "categories": []
        },
        {
            "id": "MONDO:0033043",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033043",
            "categories": []
        },
        {
            "id": "MIM:617560",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617560",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IY89-1",
            "uniprot_ac": "A0A0R4IY89",
            "uniprot_id": "A0A0R4IY89_DANRE",
            "refseq_ac": "NP_001129256",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Nkx-6.2",
                    "type": "synonym"
                },
                {
                    "name": "NK6 transcription factor related, locus 2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Nkx-6.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nkx6.2",
                    "type": "recommended"
                },
                {
                    "name": "nkx6.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IY89-1",
            "evidence": [
                {
                    "id": "0080252",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080252"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z4R4-1",
            "uniprot_ac": "D3Z4R4",
            "uniprot_id": "D3Z4R4_MOUSE",
            "refseq_ac": "NP_899071",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Drosophila NK transcription factor related, gene family 6, locus 2",
                    "type": "synonym"
                },
                {
                    "name": "NK6 homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "NK6 transcription factor related, locus 2",
                    "type": "synonym"
                },
                {
                    "name": "glial and testis specific homeobox",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Nkx-6.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nkx6-2",
                    "type": "recommended"
                },
                {
                    "name": "Gtx",
                    "type": "synonym"
                },
                {
                    "name": "Nkx6-2",
                    "type": "synonym"
                },
                {
                    "name": "Nkx6.2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z4R4-1",
            "evidence": [
                {
                    "id": "0080252",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080252"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9C056-1",
            "uniprot_ac": "Q9C056",
            "uniprot_id": "NKX62_HUMAN",
            "refseq_ac": "NP_796374",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Nkx-6.2",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein NK-6 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "NK homeobox family 6, B",
                    "type": "synonym"
                },
                {
                    "name": "NK6 transcription factor related, locus 2",
                    "type": "synonym"
                },
                {
                    "name": "glial and testis-specific homeobox protein",
                    "type": "synonym"
                },
                {
                    "name": "homeobox 6B",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein NK-6 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Nkx-6.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NKX6-2",
                    "type": "recommended"
                },
                {
                    "name": "GTX",
                    "type": "synonym"
                },
                {
                    "name": "NKX6-2",
                    "type": "synonym"
                },
                {
                    "name": "NKX6.2",
                    "type": "synonym"
                },
                {
                    "name": "NKX6B",
                    "type": "synonym"
                },
                {
                    "name": "SPAX8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9C056-1",
            "evidence": [
                {
                    "id": "617560",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617560"
                },
                {
                    "id": "0080252",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080252"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZX2-1",
            "uniprot_ac": "D3ZZX2",
            "uniprot_id": "D3ZZX2_RAT",
            "refseq_ac": "NP_001101028",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NK6 homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "NK6 transcription factor related, locus 2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Nkx-6.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nkx6-2",
                    "type": "recommended"
                },
                {
                    "name": "Nkx6-2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZZX2-1",
            "evidence": [
                {
                    "id": "0080252",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080252"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A6J3T5M5-1",
            "uniprot_ac": "A0A6J3T5M5",
            "uniprot_id": "A0A6J3T5M5_DROME",
            "refseq_ac": "NP_001368954",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG13475-PC",
                    "type": "synonym"
                },
                {
                    "name": "HGTX, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "HGTX-PC",
                    "type": "synonym"
                },
                {
                    "name": "Nk6 homeobox",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HGTX",
                    "type": "recommended"
                },
                {
                    "name": "CG13475",
                    "type": "synonym"
                },
                {
                    "name": "CG4745",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13475",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13475",
                    "type": "synonym"
                },
                {
                    "name": "HGTX",
                    "type": "synonym"
                },
                {
                    "name": "Nk6",
                    "type": "synonym"
                },
                {
                    "name": "Nkx6",
                    "type": "synonym"
                },
                {
                    "name": "dNkx6",
                    "type": "synonym"
                },
                {
                    "name": "nkx6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A6J3T5M5-1",
            "evidence": [
                {
                    "id": "0080252",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080252"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080252"
}