{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0080065",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080065",
            "categories": []
        },
        {
            "id": "MONDO:0014572",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014572",
            "categories": []
        },
        {
            "id": "MIM:616291",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616291",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61165-1",
            "uniprot_ac": "Q61165",
            "uniprot_id": "SL9A1_MOUSE",
            "refseq_ac": "NP_058677",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/hydrogen exchanger 1",
                    "type": "recommended"
                },
                {
                    "name": "NHE-1",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/H(+) exchanger 1",
                    "type": "synonym"
                },
                {
                    "name": "Na+/H+ antiporter",
                    "type": "synonym"
                },
                {
                    "name": "Na+/H+, amiloride sensitive",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 9 member 1",
                    "type": "synonym"
                },
                {
                    "name": "slow-wave epilepsy",
                    "type": "synonym"
                },
                {
                    "name": "sodium/hydrogen exchanger 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium/hydrogen exchanger 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc9a1",
                    "type": "recommended"
                },
                {
                    "name": "Apnh",
                    "type": "synonym"
                },
                {
                    "name": "Mir5122",
                    "type": "synonym"
                },
                {
                    "name": "Nhe1",
                    "type": "synonym"
                },
                {
                    "name": "Slc9a1",
                    "type": "synonym"
                },
                {
                    "name": "mir-5122",
                    "type": "synonym"
                },
                {
                    "name": "swe",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61165-1",
            "evidence": [
                {
                    "id": "0080065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19634-1",
            "uniprot_ac": "P19634",
            "uniprot_id": "SL9A1_HUMAN",
            "refseq_ac": "NP_003038",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/hydrogen exchanger 1",
                    "type": "recommended"
                },
                {
                    "name": "APNH",
                    "type": "synonym"
                },
                {
                    "name": "NHE-1",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/H(+) antiporter, amiloride-sensitive",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/H(+) exchanger 1",
                    "type": "synonym"
                },
                {
                    "name": "Na-Li countertransporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 9 member 1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 143",
                    "type": "synonym"
                },
                {
                    "name": "sodium/hydrogen exchanger 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive)",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC9A1",
                    "type": "recommended"
                },
                {
                    "name": "APNH1",
                    "type": "synonym"
                },
                {
                    "name": "APNH",
                    "type": "synonym"
                },
                {
                    "name": "LIKNS",
                    "type": "synonym"
                },
                {
                    "name": "NHE-1",
                    "type": "synonym"
                },
                {
                    "name": "NHE1",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R143",
                    "type": "synonym"
                },
                {
                    "name": "SLC9A1",
                    "type": "synonym"
                }
            ],
            "record_id": "P19634-1",
            "evidence": [
                {
                    "id": "616291",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616291"
                },
                {
                    "id": "0080065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26431-1",
            "uniprot_ac": "P26431",
            "uniprot_id": "SL9A1_RAT",
            "refseq_ac": "NP_036784",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/hydrogen exchanger 1",
                    "type": "recommended"
                },
                {
                    "name": "NHE-1",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/H(+) exchanger 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 9 (sodium/hydrogen exchanger 1), antiporter, Na+/H+, (amiloride sensitive)",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 9 member 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium/hydrogen exchanger 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9 (sodium/hydrogen exchanger), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9 member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc9a1",
                    "type": "recommended"
                },
                {
                    "name": "Nhe1",
                    "type": "synonym"
                },
                {
                    "name": "Slc9a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P26431-1",
            "evidence": [
                {
                    "id": "0080065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26885-1",
            "uniprot_ac": "P26885",
            "uniprot_id": "FKBP2_HUMAN",
            "refseq_ac": "NP_001128680",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase FKBP2",
                    "type": "recommended"
                },
                {
                    "name": "13 kDa FK506-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "13 kDa FKBP",
                    "type": "synonym"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "FK506 binding protein 2, 13kDa",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-13",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-2",
                    "type": "synonym"
                },
                {
                    "name": "Immunophilin FKBP13",
                    "type": "synonym"
                },
                {
                    "name": "PPIase FKBP2",
                    "type": "synonym"
                },
                {
                    "name": "Rotamase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "immunophilin FKBP13",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP2",
                    "type": "synonym"
                },
                {
                    "name": "proline isomerase",
                    "type": "synonym"
                },
                {
                    "name": "rapamycin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "rotamase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FKBP2",
                    "type": "recommended"
                },
                {
                    "name": "FKBP-13",
                    "type": "synonym"
                },
                {
                    "name": "FKBP13",
                    "type": "synonym"
                },
                {
                    "name": "FKBP2",
                    "type": "synonym"
                },
                {
                    "name": "PPIase",
                    "type": "synonym"
                }
            ],
            "record_id": "P26885-1",
            "evidence": [
                {
                    "id": "0080065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080065"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080065"
}