{
    "disease_id": "DOID:0060009",
    "recommended_name": {
        "id": "DOID:0060009",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060009",
        "name": "MHC class I deficiency",
        "description": "A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy."
    },
    "synonyms": [
        {
            "id": "DOID:0060009",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060009",
            "name": "BLS, TYPE I",
            "description": ""
        },
        {
            "id": "DOID:0060009",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060009",
            "name": "BLSI",
            "description": ""
        },
        {
            "id": "DOID:0060009",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060009",
            "name": "HLA CLASS I DEFICIENCY",
            "description": ""
        },
        {
            "id": "DOID:0060009",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060009",
            "name": "bare lymphocyte syndrome type I",
            "description": ""
        },
        {
            "id": "MONDO:0971006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0971006",
            "name": "MHC class I deficiency 1",
            "description": ""
        },
        {
            "id": "MIM:604571",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604571",
            "name": "MHC class I deficiency 1",
            "description": "MHC class I deficiency 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060009"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060009",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060009",
            "categories": []
        },
        {
            "id": "MONDO:0971006",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0971006",
            "categories": []
        },
        {
            "id": "MIM:604571",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604571",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q03518-1",
            "uniprot_ac": "Q03518",
            "uniprot_id": "TAP1_HUMAN",
            "refseq_ac": "NP_001278951",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Antigen peptide transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "7.4.2.14",
                    "type": "synonym"
                },
                {
                    "name": "ABC transporter, MHC 1",
                    "type": "synonym"
                },
                {
                    "name": "APT1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family B (MDR/TAP), member 2",
                    "type": "synonym"
                },
                {
                    "name": "PSF-1",
                    "type": "synonym"
                },
                {
                    "name": "Peptide supply factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Peptide transporter PSF1",
                    "type": "synonym"
                },
                {
                    "name": "Peptide transporter TAP1",
                    "type": "synonym"
                },
                {
                    "name": "Peptide transporter involved in antigen processing 1",
                    "type": "synonym"
                },
                {
                    "name": "RING4",
                    "type": "synonym"
                },
                {
                    "name": "Really interesting new gene 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "antigen peptide transporter 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "antigen peptide transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "peptide supply factor 1",
                    "type": "synonym"
                },
                {
                    "name": "peptide transporter PSF1",
                    "type": "synonym"
                },
                {
                    "name": "peptide transporter TAP1",
                    "type": "synonym"
                },
                {
                    "name": "peptide transporter involved in antigen processing 1",
                    "type": "synonym"
                },
                {
                    "name": "really interesting new gene 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "transporter 1 ATP-binding cassette sub-family B",
                    "type": "synonym"
                },
                {
                    "name": "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)",
                    "type": "synonym"
                },
                {
                    "name": "transporter associated with antigen processing",
                    "type": "synonym"
                },
                {
                    "name": "transporter, ATP-binding cassette, major histocompatibility complex, 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAP1",
                    "type": "recommended"
                },
                {
                    "name": "ABC17",
                    "type": "synonym"
                },
                {
                    "name": "ABCB2",
                    "type": "synonym"
                },
                {
                    "name": "APT1",
                    "type": "synonym"
                },
                {
                    "name": "D6S114E",
                    "type": "synonym"
                },
                {
                    "name": "MHC1D1",
                    "type": "synonym"
                },
                {
                    "name": "PSF-1",
                    "type": "synonym"
                },
                {
                    "name": "PSF1",
                    "type": "synonym"
                },
                {
                    "name": "RING4",
                    "type": "synonym"
                },
                {
                    "name": "TAP1*0102N",
                    "type": "synonym"
                },
                {
                    "name": "TAP1N",
                    "type": "synonym"
                },
                {
                    "name": "TAP1",
                    "type": "synonym"
                },
                {
                    "name": "Y3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03518-1",
            "evidence": [
                {
                    "id": "604571",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604571"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060009"
}