{
    "disease_id": "DOID:0050682",
    "recommended_name": {
        "id": "DOID:0050682",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0050682",
            "name": "NAVAJO BRAINSTEM SYNDROME",
            "description": ""
        },
        {
            "id": "MONDO:0011099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011099",
            "name": "Athabaskan brainstem dysgenesis syndrome",
            "description": "Ahabaskan brainstem dysgenesis is characterised 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": "Human HOXA1 syndromes",
            "description": ""
        },
        {
            "id": "MONDO:0011099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011099",
            "name": "Athabaskan brainstem dysgenesis syndrome; ABDS",
            "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": "ABSD",
            "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": "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": "Athabascan brainstem dysgenesis syndrome",
            "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": "BSAS",
            "description": ""
        },
        {
            "id": "MONDO:0011099",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011099",
            "name": "Bosley-Salih-Alorainy syndrome",
            "description": ""
        },
        {
            "id": "MIM:601536",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601536",
            "name": "Athabaskan brainstem dysgenesis syndrome",
            "description": "Athabaskan brainstem dysgenesis syndrome"
        }
    ]
}