{
    "disease_id": "DOID:0050682",
    "recommended_name": {
        "id": "DOID:0050682",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050682",
        "name": "Athabaskan brainstem dysgenesis syndrome",
        "description": "A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050682",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050682",
            "name": "NAVAJO BRAINSTEM SYNDROME",
            "description": ""
        },
        {
            "id": "MONDO:0011099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011099",
            "name": "human HOXA1 syndromes",
            "description": "Human HOXA1 syndromes is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive."
        },
        {
            "id": "MONDO:0011099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011099",
            "name": "ABSD",
            "description": ""
        },
        {
            "id": "MONDO:0011099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011099",
            "name": "Athabascan brainstem dysgenesis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011099",
            "name": "Athabaskan brainstem dysgenesis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011099",
            "name": "Navajo brainstem syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011099",
            "name": "ABDS",
            "description": ""
        },
        {
            "id": "MONDO:0011099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011099",
            "name": "Athabaskan brainstem dysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0011099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011099",
            "name": "BSAS",
            "description": ""
        },
        {
            "id": "MONDO:0011099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011099",
            "name": "Bosley Salih Alorainy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011099",
            "name": "Human HOXA1 syndromes",
            "description": ""
        },
        {
            "id": "MIM:601536",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601536",
            "name": "Athabaskan brainstem dysgenesis syndrome",
            "description": "Athabaskan brainstem dysgenesis syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050682"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050682",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050682",
            "categories": []
        },
        {
            "id": "MONDO:0011099",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011099",
            "categories": []
        },
        {
            "id": "MIM:601536",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601536",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q98SI1-1",
            "uniprot_ac": "Q98SI1",
            "uniprot_id": "HXA1A_DANRE",
            "refseq_ac": "NP_571611",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hox-A1a",
                    "type": "recommended"
                },
                {
                    "name": "Hox-A1",
                    "type": "synonym"
                },
                {
                    "name": "homeo box A1a",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-A1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hoxa1a",
                    "type": "recommended"
                },
                {
                    "name": "Hox-a1",
                    "type": "synonym"
                },
                {
                    "name": "hoxa1a",
                    "type": "synonym"
                },
                {
                    "name": "hoxa1",
                    "type": "synonym"
                },
                {
                    "name": "hoxa3a",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd3526",
                    "type": "synonym"
                },
                {
                    "name": "z-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q98SI1-1",
            "evidence": [
                {
                    "id": "0050682",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050682"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09022-1",
            "uniprot_ac": "P09022",
            "uniprot_id": "HXA1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hox-A1",
                    "type": "recommended"
                },
                {
                    "name": "Early retinoic acid 1",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein Hox-1.6",
                    "type": "synonym"
                },
                {
                    "name": "Homeoboxless protein ERA-1-399",
                    "type": "synonym"
                },
                {
                    "name": "Homeotic protein ERA-1-993",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hoxa1",
                    "type": "recommended"
                },
                {
                    "name": "Era-1",
                    "type": "synonym"
                },
                {
                    "name": "Hox-1.6",
                    "type": "synonym"
                },
                {
                    "name": "Hoxa-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P09022-1",
            "evidence": [
                {
                    "id": "0050682",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050682"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49639-1",
            "uniprot_ac": "P49639",
            "uniprot_id": "HXA1_HUMAN",
            "refseq_ac": "NP_005513",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hox-A1",
                    "type": "recommended"
                },
                {
                    "name": "HOX A1 homeodomain protein",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein Hox-1F",
                    "type": "synonym"
                },
                {
                    "name": "Hox 1.6-like protein",
                    "type": "synonym"
                },
                {
                    "name": "homeo box A1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox 1F",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein HOX-A1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-1F",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-A1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "lab-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HOXA1",
                    "type": "recommended"
                },
                {
                    "name": "BSAS",
                    "type": "synonym"
                },
                {
                    "name": "HOX1F",
                    "type": "synonym"
                },
                {
                    "name": "HOX1",
                    "type": "synonym"
                },
                {
                    "name": "HOXA1",
                    "type": "synonym"
                }
            ],
            "record_id": "P49639-1",
            "evidence": [
                {
                    "id": "601536",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601536"
                },
                {
                    "id": "0050682",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050682"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08656-1",
            "uniprot_ac": "O08656",
            "uniprot_id": "HXA1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hox-A1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Hoxa1",
                    "type": "recommended"
                },
                {
                    "name": "NEWGENE_2812",
                    "type": "synonym"
                }
            ],
            "record_id": "O08656-1",
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                {
                    "id": "0050682",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050682"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10105-2",
            "uniprot_ac": "P10105",
            "uniprot_id": "LAB_DROME",
            "refseq_ac": "NP_476613",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeotic protein labial",
                    "type": "recommended"
                },
                {
                    "name": "CG1264-PA",
                    "type": "synonym"
                },
                {
                    "name": "F24",
                    "type": "synonym"
                },
                {
                    "name": "F90-2",
                    "type": "synonym"
                },
                {
                    "name": "lab-PA",
                    "type": "synonym"
                },
                {
                    "name": "labial, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "labial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lab",
                    "type": "recommended"
                },
                {
                    "name": "BG:DS00004.9",
                    "type": "synonym"
                },
                {
                    "name": "CG1264",
                    "type": "synonym"
                },
                {
                    "name": "Dm lab",
                    "type": "synonym"
                },
                {
                    "name": "DmLab",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1264",
                    "type": "synonym"
                },
                {
                    "name": "Dmlab",
                    "type": "synonym"
                },
                {
                    "name": "EfR9",
                    "type": "synonym"
                },
                {
                    "name": "F121",
                    "type": "synonym"
                },
                {
                    "name": "F24",
                    "type": "synonym"
                },
                {
                    "name": "F90-2",
                    "type": "synonym"
                },
                {
                    "name": "F90",
                    "type": "synonym"
                },
                {
                    "name": "LAB",
                    "type": "synonym"
                },
                {
                    "name": "Lab",
                    "type": "synonym"
                },
                {
                    "name": "l(3)01241",
                    "type": "synonym"
                },
                {
                    "name": "l(3)84Ac",
                    "type": "synonym"
                },
                {
                    "name": "lab",
                    "type": "synonym"
                },
                {
                    "name": "lb",
                    "type": "synonym"
                }
            ],
            "record_id": "P10105-2",
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                    "id": "0050682",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050682"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050682"
}