{
    "disease_id": "DOID:0080065",
    "recommended_name": {
        "id": "DOID:0080065",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080065",
        "name": "autosomal recessive spinocerebellar ataxia 19",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0080065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080065",
            "name": "Lichtenstein-Knorr syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080065",
            "name": "SCAR19",
            "description": ""
        },
        {
            "id": "MONDO:0014572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014572",
            "name": "Lichtenstein-Knorr syndrome",
            "description": "An autosomal recessive spinocerebellar ataxia caused by disease-causing variants in the SLC9A1 gene, characterized by early-onset cerebellar ataxia, cognitive or developmental delay, seizure, and cerebellar atrophy. Patients may also present with varying degrees of nystagmus, oculomotor apraxia, amelogenesis imperfecta and sensorineural hearing loss."
        },
        {
            "id": "MONDO:0014572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014572",
            "name": "LIKNS",
            "description": ""
        },
        {
            "id": "MONDO:0014572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014572",
            "name": "Lichtenstein-Knorr syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014572",
            "name": "SCAR19",
            "description": ""
        },
        {
            "id": "MONDO:0014572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014572",
            "name": "SLC9A1-related spinocerebellar ataxia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014572",
            "name": "autosomal recessive spinocerebellar ataxia type 19",
            "description": ""
        },
        {
            "id": "MONDO:0014572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014572",
            "name": "progressive autosomal recessive ataxia-sensorineural hearing loss syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014572",
            "name": "spinocerebellar ataxia, autosomal recessive 19",
            "description": ""
        },
        {
            "id": "MIM:616291",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616291",
            "name": "Lichtenstein-Knorr syndrome",
            "description": "Lichtenstein-Knorr syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080065"
    ],
    "unlinked_id_list": []
}