{
    "disease_id": "DOID:0060825",
    "recommended_name": {
        "id": "DOID:0060825",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060825",
        "name": "Christianson syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types that has_material_basis_in mutation in hemizygous mutation in the SLC9A6 gene on chromosome Xq26."
    },
    "synonyms": [
        {
            "id": "DOID:0060825",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060825",
            "name": "MRXSCH",
            "description": ""
        },
        {
            "id": "DOID:0060825",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060825",
            "name": "X-linked Angelman-like syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060825",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060825",
            "name": "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060825",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060825",
            "name": "mental retardation, X-linked syndromic, Christianson type",
            "description": ""
        },
        {
            "id": "DOID:0060825",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060825",
            "name": "X-linked intellectual disability, South African type",
            "description": ""
        },
        {
            "id": "DOID:0060825",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060825",
            "name": "mental retardation, microcephaly, epilepsy, and ataxia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060825",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060825",
            "name": "Christianson type of X-linked syndromic intellectual developmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0010278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010278",
            "name": "Christianson syndrome",
            "description": "A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures."
        },
        {
            "id": "MONDO:0010278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010278",
            "name": "Christianson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010278",
            "name": "MRXSCH",
            "description": ""
        },
        {
            "id": "MONDO:0010278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010278",
            "name": "X-linked Angelman-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010278",
            "name": "intellectual developmental disorder, X-linked syndromic, Christianson type",
            "description": ""
        },
        {
            "id": "MONDO:0010278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010278",
            "name": "intellectual disability, X-linked syndromic, Christianson type",
            "description": ""
        },
        {
            "id": "MONDO:0010278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010278",
            "name": "intellectual disability, microcephaly, epilepsy, and ataxia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010278",
            "name": "mental retardation, microcephaly, epilepsy, and ataxia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010278",
            "name": "Angelman-like syndrome X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010278",
            "name": "MRXS Christianson",
            "description": ""
        },
        {
            "id": "MONDO:0010278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010278",
            "name": "X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010278",
            "name": "intellectual disability X-linked syndromic Christianson type",
            "description": ""
        },
        {
            "id": "MONDO:0010278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010278",
            "name": "intellectual disability microcephaly epilepsy and ataxia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010278",
            "name": "intellectual disability, X-linked, syndromic, Christianson type",
            "description": ""
        },
        {
            "id": "MONDO:0010278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010278",
            "name": "mental retardation, X-linked, syndromic, Christianson type",
            "description": ""
        },
        {
            "id": "MIM:300243",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300243",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Christianson type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Christianson type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060825"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060825",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060825",
            "categories": []
        },
        {
            "id": "MONDO:0010278",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010278",
            "categories": []
        },
        {
            "id": "MIM:300243",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300243",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QSJ6-1",
            "uniprot_ac": "F1QSJ6",
            "uniprot_id": "F1QSJ6_DANRE",
            "refseq_ac": "NP_001091726",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/hydrogen exchanger",
                    "type": "recommended"
                },
                {
                    "name": "sodium/hydrogen exchanger 6a precursor",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9 (sodium/hydrogen exchanger), member 6a",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9 member A6",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc9a6a",
                    "type": "recommended"
                },
                {
                    "name": "fv47b07",
                    "type": "synonym"
                },
                {
                    "name": "slc9a6a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fv47b07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:163055",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QSJ6-1",
            "evidence": [
                {
                    "id": "0060825",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060825"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1L3P4-1",
            "uniprot_ac": "A1L3P4",
            "uniprot_id": "SL9A6_MOUSE",
            "refseq_ac": "NP_766368",
            "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 6",
                    "type": "recommended"
                },
                {
                    "name": "NHE-6",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/H(+) exchanger 6",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/hydrogen exchanger",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 9 member 6",
                    "type": "synonym"
                },
                {
                    "name": "sodium/hydrogen exchanger 6 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sodium/hydrogen exchanger 6",
                    "type": "synonym"
                },
                {
                    "name": "sodium/hydrogen exchanger",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9 member 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc9a6",
                    "type": "recommended"
                },
                {
                    "name": "3732426M05",
                    "type": "synonym"
                },
                {
                    "name": "6430520C02Rik",
                    "type": "synonym"
                },
                {
                    "name": "NHE-6",
                    "type": "synonym"
                },
                {
                    "name": "NHE6",
                    "type": "synonym"
                },
                {
                    "name": "Nhe6",
                    "type": "synonym"
                },
                {
                    "name": "Slc9a6",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0267",
                    "type": "synonym"
                }
            ],
            "record_id": "A1L3P4-1",
            "evidence": [
                {
                    "id": "0060825",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060825"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92581-2",
            "uniprot_ac": "Q92581",
            "uniprot_id": "SL9A6_HUMAN",
            "refseq_ac": "NP_001036002",
            "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 6",
                    "type": "recommended"
                },
                {
                    "name": "NHE-6",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/H(+) exchanger 6",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 9 member 6",
                    "type": "synonym"
                },
                {
                    "name": "sodium/hydrogen exchanger 6 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9 (sodium/hydrogen exchanger), member 6",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC9A6",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0267",
                    "type": "synonym"
                },
                {
                    "name": "MRSA",
                    "type": "synonym"
                },
                {
                    "name": "MRXSCH",
                    "type": "synonym"
                },
                {
                    "name": "NDPACX",
                    "type": "synonym"
                },
                {
                    "name": "NHE6",
                    "type": "synonym"
                },
                {
                    "name": "SLC9A6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92581-2",
            "evidence": [
                {
                    "id": "300243",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300243"
                },
                {
                    "id": "0060825",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060825"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04121-1",
            "uniprot_ac": "Q04121",
            "uniprot_id": "NHX1_YEAST",
            "refseq_ac": "NP_010744",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endosomal/prevacuolar sodium/hydrogen exchanger",
                    "type": "recommended"
                },
                {
                    "name": "Endosomal/prevacuolar Na(+)/H(+) exchanger",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 44",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional K:H/Na:H antiporter NHX1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NHX1",
                    "type": "recommended"
                },
                {
                    "name": "D9461.40",
                    "type": "synonym"
                },
                {
                    "name": "NHA2",
                    "type": "synonym"
                },
                {
                    "name": "NHX1",
                    "type": "synonym"
                },
                {
                    "name": "VPL27",
                    "type": "synonym"
                },
                {
                    "name": "VPS44",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04121-1",
            "evidence": [
                {
                    "id": "0060825",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060825"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZJ86-1",
            "uniprot_ac": "D3ZJ86",
            "uniprot_id": "SL9A6_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/hydrogen exchanger 6",
                    "type": "recommended"
                },
                {
                    "name": "NHE-6",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/H(+) exchanger 6",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/hydrogen exchanger",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 9 member 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc9a6",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZJ86-1",
            "evidence": [
                {
                    "id": "0060825",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060825"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IPJ4-1",
            "uniprot_ac": "Q8IPJ4",
            "uniprot_id": "Q8IPJ4_DROME",
            "refseq_ac": "NP_723202",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/hydrogen exchanger",
                    "type": "recommended"
                },
                {
                    "name": "CG11328-PD",
                    "type": "synonym"
                },
                {
                    "name": "Na+/H+ hydrogen exchanger 3",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]/H[+] hydrogen exchanger 3, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Nhe3-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nhe3",
                    "type": "recommended"
                },
                {
                    "name": "CG11328",
                    "type": "synonym"
                },
                {
                    "name": "DmNHE3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11328",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11328",
                    "type": "synonym"
                },
                {
                    "name": "NHE3",
                    "type": "synonym"
                },
                {
                    "name": "NHE",
                    "type": "synonym"
                },
                {
                    "name": "Nhe3",
                    "type": "synonym"
                },
                {
                    "name": "nhe3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IPJ4-1",
            "evidence": [
                {
                    "id": "0060825",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060825"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060825"
}