{
    "disease_id": "DOID:0112015",
    "recommended_name": {
        "id": "DOID:0112015",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112015",
        "name": "immunodeficiency 72",
        "description": "A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112015",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112015",
            "name": "immunodeficiency 72 with autoinflammation",
            "description": ""
        },
        {
            "id": "MONDO:0033551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033551",
            "name": "immunodeficiency 72 with autoinflammation",
            "description": ""
        },
        {
            "id": "MONDO:0033551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033551",
            "name": "IMD72",
            "description": ""
        },
        {
            "id": "MIM:618982",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618982",
            "name": "Immunodeficiency 72 with autoinflammation and lymphoproliferation",
            "description": "Immunodeficiency 72 with autoinflammation and lymphoproliferation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112015"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112015",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112015",
            "categories": []
        },
        {
            "id": "MONDO:0033551",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033551",
            "categories": []
        },
        {
            "id": "MIM:618982",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618982",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K1X4-1",
            "uniprot_ac": "Q8K1X4",
            "uniprot_id": "NCKPL_MOUSE",
            "refseq_ac": "NP_705725",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nck-associated protein 1-like",
                    "type": "recommended"
                },
                {
                    "name": "Hematopoietic protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hematopoietic protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nck-associated protein 1-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nckap1l",
                    "type": "recommended"
                },
                {
                    "name": "4930568P13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hem1",
                    "type": "synonym"
                },
                {
                    "name": "Hemp1",
                    "type": "synonym"
                },
                {
                    "name": "Nckap1l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K1X4-1",
            "evidence": [
                {
                    "id": "0112015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112015"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55160-1",
            "uniprot_ac": "P55160",
            "uniprot_id": "NCKPL_HUMAN",
            "refseq_ac": "NP_001171905",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nck-associated protein 1-like",
                    "type": "recommended"
                },
                {
                    "name": "Hematopoietic protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated protein HEM-1",
                    "type": "synonym"
                },
                {
                    "name": "hematopoietic protein 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated protein hem-1",
                    "type": "synonym"
                },
                {
                    "name": "nck-associated protein 1-like isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nck-associated protein 1-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NCKAP1L",
                    "type": "recommended"
                },
                {
                    "name": "HEM1",
                    "type": "synonym"
                },
                {
                    "name": "IMD72",
                    "type": "synonym"
                },
                {
                    "name": "NCKAP1L",
                    "type": "synonym"
                }
            ],
            "record_id": "P55160-1",
            "evidence": [
                {
                    "id": "618982",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618982"
                },
                {
                    "id": "0112015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112015"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L3V1-1",
            "uniprot_ac": "A0ABK0L3V1",
            "uniprot_id": "A0ABK0L3V1_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": "NCK associated protein 1 like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nckap1l",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0L3V1-1",
            "evidence": [
                {
                    "id": "0112015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112015"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55162-1",
            "uniprot_ac": "P55162",
            "uniprot_id": "HEM_DROME",
            "refseq_ac": "NP_524214",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-associated protein Hem",
                    "type": "recommended"
                },
                {
                    "name": "CG5837-PA",
                    "type": "synonym"
                },
                {
                    "name": "HEM-protein",
                    "type": "synonym"
                },
                {
                    "name": "Hem-PA",
                    "type": "synonym"
                },
                {
                    "name": "dHem-2",
                    "type": "synonym"
                },
                {
                    "name": "hemkette",
                    "type": "synonym"
                },
                {
                    "name": "kette",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hem",
                    "type": "recommended"
                },
                {
                    "name": "CG5837",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5837",
                    "type": "synonym"
                },
                {
                    "name": "HEM2",
                    "type": "synonym"
                },
                {
                    "name": "HEM",
                    "type": "synonym"
                },
                {
                    "name": "Hem1",
                    "type": "synonym"
                },
                {
                    "name": "Hem",
                    "type": "synonym"
                },
                {
                    "name": "Kette/Nap1",
                    "type": "synonym"
                },
                {
                    "name": "Kette",
                    "type": "synonym"
                },
                {
                    "name": "Nap1",
                    "type": "synonym"
                },
                {
                    "name": "Nap",
                    "type": "synonym"
                },
                {
                    "name": "dNAP",
                    "type": "synonym"
                },
                {
                    "name": "dNap",
                    "type": "synonym"
                },
                {
                    "name": "dhem-2",
                    "type": "synonym"
                },
                {
                    "name": "dhem",
                    "type": "synonym"
                },
                {
                    "name": "kette",
                    "type": "synonym"
                },
                {
                    "name": "kte",
                    "type": "synonym"
                },
                {
                    "name": "l(3)03335",
                    "type": "synonym"
                }
            ],
            "record_id": "P55162-1",
            "evidence": [
                {
                    "id": "0112015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112015"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112015"
}