{
    "disease_id": "DOID:0112107",
    "recommended_name": {
        "id": "DOID:0112107",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112107",
        "name": "McLeod syndrome",
        "description": "A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112107",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112107",
            "name": "MLS",
            "description": ""
        },
        {
            "id": "DOID:0112107",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112107",
            "name": "McLeod neuroacanthocytosis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112107",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112107",
            "name": "McLeod type neuroacanthocytosis",
            "description": ""
        },
        {
            "id": "DOID:0112107",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112107",
            "name": "X-linked McLeod syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112107",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112107",
            "name": "McLeod syndrome with or without chronic granulomatous disease",
            "description": ""
        },
        {
            "id": "MONDO:0018945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018945",
            "name": "XK-related neurodegenerative disease",
            "description": "A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens."
        },
        {
            "id": "MONDO:0018945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018945",
            "name": "MLS",
            "description": ""
        },
        {
            "id": "MONDO:0018945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018945",
            "name": "McLeod neuroacanthocytosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0018945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018945",
            "name": "McLeod syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0018945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018945",
            "name": "X-linked McLeod syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0018945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018945",
            "name": "XK disease",
            "description": ""
        },
        {
            "id": "MONDO:0018945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018945",
            "name": "MCLDS",
            "description": ""
        },
        {
            "id": "MIM:300842",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300842",
            "name": "McLeod syndrome",
            "description": "McLeod syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112107"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112107",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112107",
            "categories": []
        },
        {
            "id": "MONDO:0018945",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018945",
            "categories": []
        },
        {
            "id": "MIM:300842",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300842",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QXY7-1",
            "uniprot_ac": "Q9QXY7",
            "uniprot_id": "XK_MOUSE",
            "refseq_ac": "NP_075989",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum membrane adapter protein XK",
                    "type": "recommended"
                },
                {
                    "name": "Kell blood group precursor (McLeod phenotype) homolog",
                    "type": "synonym"
                },
                {
                    "name": "McLeod syndrome gene homolog",
                    "type": "synonym"
                },
                {
                    "name": "Membrane transport protein XK",
                    "type": "synonym"
                },
                {
                    "name": "XK homolog",
                    "type": "synonym"
                },
                {
                    "name": "XK-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum membrane adapter protein XK",
                    "type": "synonym"
                },
                {
                    "name": "membrane transport protein XK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xk",
                    "type": "recommended"
                },
                {
                    "name": "1810038K19Rik",
                    "type": "synonym"
                },
                {
                    "name": "XRG1",
                    "type": "synonym"
                },
                {
                    "name": "Xkh",
                    "type": "synonym"
                },
                {
                    "name": "Xkr1",
                    "type": "synonym"
                },
                {
                    "name": "Xk",
                    "type": "synonym"
                },
                {
                    "name": "Xrg1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QXY7-1",
            "evidence": [
                {
                    "id": "0112107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112107"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51811-1",
            "uniprot_ac": "P51811",
            "uniprot_id": "XK_HUMAN",
            "refseq_ac": "NP_066569",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum membrane adapter protein XK",
                    "type": "recommended"
                },
                {
                    "name": "Kell blood group precursor (McLeod phenotype)",
                    "type": "synonym"
                },
                {
                    "name": "Kell complex 37 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "Kx antigen",
                    "type": "synonym"
                },
                {
                    "name": "Kx blood group antigen",
                    "type": "synonym"
                },
                {
                    "name": "Membrane transport protein XK",
                    "type": "synonym"
                },
                {
                    "name": "XK, Kell blood group complex subunit (McLeod syndrome)",
                    "type": "synonym"
                },
                {
                    "name": "XK-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum membrane adapter protein XK",
                    "type": "synonym"
                },
                {
                    "name": "kell complex 37 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "membrane transport protein XK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "XK",
                    "type": "recommended"
                },
                {
                    "name": "KX",
                    "type": "synonym"
                },
                {
                    "name": "NAC",
                    "type": "synonym"
                },
                {
                    "name": "NA",
                    "type": "synonym"
                },
                {
                    "name": "X1k",
                    "type": "synonym"
                },
                {
                    "name": "XKR1",
                    "type": "synonym"
                },
                {
                    "name": "XK",
                    "type": "synonym"
                },
                {
                    "name": "XRG1",
                    "type": "synonym"
                }
            ],
            "record_id": "P51811-1",
            "evidence": [
                {
                    "id": "300842",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300842"
                },
                {
                    "id": "0112107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112107"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5GH61-1",
            "uniprot_ac": "Q5GH61",
            "uniprot_id": "XK_RAT",
            "refseq_ac": "NP_001012227",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum membrane adapter protein XK",
                    "type": "recommended"
                },
                {
                    "name": "Kell blood group precursor (McLeod phenotype) homolog",
                    "type": "synonym"
                },
                {
                    "name": "Membrane transport protein XK",
                    "type": "synonym"
                },
                {
                    "name": "X-linked Kx blood group (McLeod syndrome) homolog",
                    "type": "synonym"
                },
                {
                    "name": "XK homolog",
                    "type": "synonym"
                },
                {
                    "name": "XK-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum membrane adapter protein XK",
                    "type": "synonym"
                },
                {
                    "name": "membrane transport protein XK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xk",
                    "type": "recommended"
                },
                {
                    "name": "Xkh",
                    "type": "synonym"
                },
                {
                    "name": "Xkr1",
                    "type": "synonym"
                },
                {
                    "name": "Xk",
                    "type": "synonym"
                },
                {
                    "name": "Xrg1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5GH61-1",
            "evidence": [
                {
                    "id": "0112107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112107"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112107"
}