{
    "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": []
}