{
    "disease_id": "DOID:0111977",
    "recommended_name": {
        "id": "DOID:0111977",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111977",
        "name": "immunodeficiency 7",
        "description": "A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111977",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111977",
            "name": "IMD7",
            "description": ""
        },
        {
            "id": "DOID:0111977",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111977",
            "name": "TCR-alpha-beta-positive T-cell deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111977",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111977",
            "name": "immunodeficiency 7, TCR-alpha/beta deficient",
            "description": ""
        },
        {
            "id": "MONDO:0014160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014160",
            "name": "TCR-alpha-beta-positive T-cell deficiency",
            "description": "A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta."
        },
        {
            "id": "MONDO:0014160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014160",
            "name": "IMD7",
            "description": ""
        },
        {
            "id": "MONDO:0014160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014160",
            "name": "TCR-alpha-beta+ T-cell deficiency",
            "description": ""
        },
        {
            "id": "MIM:615387",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615387",
            "name": "Immunodeficiency 7",
            "description": "Immunodeficiency 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111977"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111977",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111977",
            "categories": []
        },
        {
            "id": "MONDO:0014160",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014160",
            "categories": []
        },
        {
            "id": "MIM:615387",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615387",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P01849-1",
            "uniprot_ac": "P01849",
            "uniprot_id": "TRAC_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell receptor alpha chain constant",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Trac",
                    "type": "recommended"
                }
            ],
            "record_id": "P01849-1",
            "evidence": [
                {
                    "id": "0111977",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111977"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01848-1",
            "uniprot_ac": "P01848",
            "uniprot_id": "TRAC_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "T cell receptor alpha chain constant",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "TRAC",
                    "type": "recommended"
                },
                {
                    "name": "TCRA",
                    "type": "synonym"
                }
            ],
            "record_id": "P01848-1",
            "evidence": [
                {
                    "id": "615387",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615387"
                },
                {
                    "id": "0111977",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111977"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111977"
}