{
    "disease_id": "DOID:0061074",
    "recommended_name": {
        "id": "DOID:0061074",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061074",
        "name": "severe combined immunodeficiency 105",
        "description": "A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31."
    },
    "synonyms": [
        {
            "id": "MONDO:0800104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800104",
            "name": "immunodeficiency 105",
            "description": "Any immunodeficiency disease which the cause of the disease is a mutation in the PTPRC gene."
        },
        {
            "id": "MONDO:0800104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800104",
            "name": "IMD105",
            "description": ""
        },
        {
            "id": "MIM:619924",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619924",
            "name": "Immunodeficiency 105, severe combined",
            "description": "Immunodeficiency 105, severe combined"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061074"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061074",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061074",
            "categories": []
        },
        {
            "id": "MONDO:0800104",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800104",
            "categories": []
        },
        {
            "id": "MIM:619924",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619924",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P06800-4",
            "uniprot_ac": "P06800",
            "uniprot_id": "PTPRC_MOUSE",
            "refseq_ac": "NP_001104786",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor-type tyrosine-protein phosphatase C",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "L-CA",
                    "type": "synonym"
                },
                {
                    "name": "Leukocyte common antigen",
                    "type": "synonym"
                },
                {
                    "name": "Ly-5",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte antigen 5",
                    "type": "synonym"
                },
                {
                    "name": "T200",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte common antigen",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte antigen 5",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte common antigen",
                    "type": "synonym"
                },
                {
                    "name": "receptor-type tyrosine-protein phosphatase C isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "receptor-type tyrosine-protein phosphatase C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptprc",
                    "type": "recommended"
                },
                {
                    "name": "B220",
                    "type": "synonym"
                },
                {
                    "name": "CD45R",
                    "type": "synonym"
                },
                {
                    "name": "Cd45",
                    "type": "synonym"
                },
                {
                    "name": "L-CA",
                    "type": "synonym"
                },
                {
                    "name": "Ly-5",
                    "type": "synonym"
                },
                {
                    "name": "Lyt-4",
                    "type": "synonym"
                },
                {
                    "name": "Ptprc",
                    "type": "synonym"
                },
                {
                    "name": "T200",
                    "type": "synonym"
                },
                {
                    "name": "loc",
                    "type": "synonym"
                }
            ],
            "record_id": "P06800-4",
            "evidence": [
                {
                    "id": "0061074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08575-3",
            "uniprot_ac": "P08575",
            "uniprot_id": "PTPRC_HUMAN",
            "refseq_ac": "NP_002829",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor-type tyrosine-protein phosphatase C",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "CD45 antigen",
                    "type": "synonym"
                },
                {
                    "name": "L-CA",
                    "type": "synonym"
                },
                {
                    "name": "Leukocyte common antigen",
                    "type": "synonym"
                },
                {
                    "name": "T200 glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "T200 leukocyte common antigen",
                    "type": "synonym"
                },
                {
                    "name": "T200",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein 180",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine phosphatase, receptor type, c polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "receptor-type tyrosine-protein phosphatase C isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTPRC",
                    "type": "recommended"
                },
                {
                    "name": "B220",
                    "type": "synonym"
                },
                {
                    "name": "CD45R",
                    "type": "synonym"
                },
                {
                    "name": "CD45",
                    "type": "synonym"
                },
                {
                    "name": "GP180",
                    "type": "synonym"
                },
                {
                    "name": "IMD105",
                    "type": "synonym"
                },
                {
                    "name": "L-CA",
                    "type": "synonym"
                },
                {
                    "name": "LCA",
                    "type": "synonym"
                },
                {
                    "name": "LY5",
                    "type": "synonym"
                },
                {
                    "name": "PTPRC",
                    "type": "synonym"
                },
                {
                    "name": "T200",
                    "type": "synonym"
                }
            ],
            "record_id": "P08575-3",
            "evidence": [
                {
                    "id": "619924",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619924"
                },
                {
                    "id": "0061074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40048-1",
            "uniprot_ac": "P40048",
            "uniprot_id": "PTP3_YEAST",
            "refseq_ac": "NP_010998",
            "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": "Tyrosine-protein phosphatase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "PTPase 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein-tyrosine phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine protein phosphatase PTP3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTP3",
                    "type": "recommended"
                },
                {
                    "name": "PTP3",
                    "type": "synonym"
                }
            ],
            "record_id": "P40048-1",
            "evidence": [
                {
                    "id": "0061074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25044-1",
            "uniprot_ac": "P25044",
            "uniprot_id": "PTP1_YEAST",
            "refseq_ac": "NP_010051",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein phosphatase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "PTPase 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein-tyrosine phosphatase 1",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine protein phosphatase PTP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTP1",
                    "type": "recommended"
                },
                {
                    "name": "PTP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P25044-1",
            "evidence": [
                {
                    "id": "0061074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04157-1",
            "uniprot_ac": "P04157",
            "uniprot_id": "PTPRC_RAT",
            "refseq_ac": "NP_001103357",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor-type tyrosine-protein phosphatase C",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "L-CA",
                    "type": "synonym"
                },
                {
                    "name": "Leukocyte common antigen",
                    "type": "synonym"
                },
                {
                    "name": "T200 glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "T200",
                    "type": "synonym"
                },
                {
                    "name": "leucocyte common antigen",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte common antigen A",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte common antigen B",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine phosphatase, receptor-type, c polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "receptor-type tyrosine-protein phosphatase C isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "receptor-type tyrosine-protein phosphatase C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptprc",
                    "type": "recommended"
                },
                {
                    "name": "CD45",
                    "type": "synonym"
                },
                {
                    "name": "L-CA",
                    "type": "synonym"
                },
                {
                    "name": "Lca",
                    "type": "synonym"
                },
                {
                    "name": "Ptprc",
                    "type": "synonym"
                },
                {
                    "name": "RT7",
                    "type": "synonym"
                },
                {
                    "name": "T200",
                    "type": "synonym"
                }
            ],
            "record_id": "P04157-1",
            "evidence": [
                {
                    "id": "0061074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16620-1",
            "uniprot_ac": "P16620",
            "uniprot_id": "PTP69_DROME",
            "refseq_ac": "NP_524048",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein phosphatase 69D",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "CG10975-PA",
                    "type": "synonym"
                },
                {
                    "name": "DPTP",
                    "type": "synonym"
                },
                {
                    "name": "Protein-tyrosine-phosphate phosphohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Ptp69D-PA",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine phosphatase 69D, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine phosphatase PTP69D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptp69D",
                    "type": "recommended"
                },
                {
                    "name": "69D",
                    "type": "synonym"
                },
                {
                    "name": "CG10975",
                    "type": "synonym"
                },
                {
                    "name": "CT30751",
                    "type": "synonym"
                },
                {
                    "name": "DPTP69D",
                    "type": "synonym"
                },
                {
                    "name": "DPTP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10975",
                    "type": "synonym"
                },
                {
                    "name": "Dptp69D",
                    "type": "synonym"
                },
                {
                    "name": "PTP69D",
                    "type": "synonym"
                },
                {
                    "name": "PTPase",
                    "type": "synonym"
                },
                {
                    "name": "Ptp69D",
                    "type": "synonym"
                },
                {
                    "name": "Ptp69d",
                    "type": "synonym"
                },
                {
                    "name": "Ptp",
                    "type": "synonym"
                },
                {
                    "name": "R-PTP 69D",
                    "type": "synonym"
                },
                {
                    "name": "RPtp69D",
                    "type": "synonym"
                },
                {
                    "name": "dptp69D",
                    "type": "synonym"
                },
                {
                    "name": "dptp69d",
                    "type": "synonym"
                },
                {
                    "name": "ptp69D",
                    "type": "synonym"
                },
                {
                    "name": "ptp69d",
                    "type": "synonym"
                },
                {
                    "name": "ptp69",
                    "type": "synonym"
                },
                {
                    "name": "rptp69d",
                    "type": "synonym"
                }
            ],
            "record_id": "P16620-1",
            "evidence": [
                {
                    "id": "0061074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061074"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061074"
}