{
    "disease_id": "DOID:0060020",
    "recommended_name": {
        "id": "DOID:0060020",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060020",
        "name": "reticular dysgenesis",
        "description": "A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions."
    },
    "synonyms": [
        {
            "id": "DOID:0060020",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060020",
            "name": "De Vaal disease",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "reticular dysgenesis",
            "description": "Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated."
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "AK2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "De Vaal disease",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "SCID with leukopenia",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "congenital aleukocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "generalised haematopoietic hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "generalized hematopoietic hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "reticular dysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "severe combined immunodeficiency with leukopenia",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "DeVaal disease",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "RD",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "haematopoietic hypoplasia, generalised",
            "description": ""
        },
        {
            "id": "MIM:267500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/267500",
            "name": "Reticular dysgenesis",
            "description": "Reticular dysgenesis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060020"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060020",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060020",
            "categories": []
        },
        {
            "id": "MONDO:0009973",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "categories": []
        },
        {
            "id": "MIM:267500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/267500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1L8L9-1",
            "uniprot_ac": "Q1L8L9",
            "uniprot_id": "KAD2_DANRE",
            "refseq_ac": "NP_997761",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate kinase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.3",
                    "type": "synonym"
                },
                {
                    "name": "AK 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-AMP transphosphorylase 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP:AMP phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate monophosphate kinase",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ak2",
                    "type": "recommended"
                },
                {
                    "name": "ak2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-197n10.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb34f05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj80e03",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L8L9-1",
            "evidence": [
                {
                    "id": "0060020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WTP6-1",
            "uniprot_ac": "Q9WTP6",
            "uniprot_id": "KAD2_MOUSE",
            "refseq_ac": "NP_001029138",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate kinase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.3",
                    "type": "synonym"
                },
                {
                    "name": "AK 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-AMP transphosphorylase 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP:AMP phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate monophosphate kinase",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase 2, mitochondrial isoform a",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "adenylate monophosphate kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ak2",
                    "type": "recommended"
                },
                {
                    "name": "Ak-2",
                    "type": "synonym"
                },
                {
                    "name": "Ak2",
                    "type": "synonym"
                },
                {
                    "name": "D4Ertd220e",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WTP6-1",
            "evidence": [
                {
                    "id": "0060020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54819-1",
            "uniprot_ac": "P54819",
            "uniprot_id": "KAD2_HUMAN",
            "refseq_ac": "NP_001186128",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate kinase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.3",
                    "type": "synonym"
                },
                {
                    "name": "AK 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-AMP transphosphorylase 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP:AMP phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate monophosphate kinase",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase 2, mitochondrial isoform c",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase isoenzyme 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "adenylate monophosphate kinase",
                    "type": "synonym"
                },
                {
                    "name": "testis secretory sperm-binding protein Li 220n",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AK2",
                    "type": "recommended"
                },
                {
                    "name": "ADK2",
                    "type": "synonym"
                },
                {
                    "name": "AK2",
                    "type": "synonym"
                }
            ],
            "record_id": "P54819-1",
            "evidence": [
                {
                    "id": "267500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/267500"
                },
                {
                    "id": "0060020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07170-1",
            "uniprot_ac": "P07170",
            "uniprot_id": "KAD2_YEAST",
            "refseq_ac": "NP_010512",
            "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": "Adenylate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.3",
                    "type": "synonym"
                },
                {
                    "name": "ATP-AMP transphosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "ATP:AMP phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate kinase cytosolic and mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate monophosphate kinase",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase ADK1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADK1",
                    "type": "recommended"
                },
                {
                    "name": "ADK1",
                    "type": "synonym"
                },
                {
                    "name": "AKY1",
                    "type": "synonym"
                },
                {
                    "name": "AKY2",
                    "type": "synonym"
                },
                {
                    "name": "AKY",
                    "type": "synonym"
                },
                {
                    "name": "YD9934.11",
                    "type": "synonym"
                }
            ],
            "record_id": "P07170-1",
            "evidence": [
                {
                    "id": "0060020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29410-1",
            "uniprot_ac": "P29410",
            "uniprot_id": "KAD2_RAT",
            "refseq_ac": "NP_001029139",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate kinase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.3",
                    "type": "synonym"
                },
                {
                    "name": "AK 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-AMP transphosphorylase 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP:AMP phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate monophosphate kinase",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase 2, mitochondrial isoform b",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "adenylate monophosphate kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ak2",
                    "type": "recommended"
                },
                {
                    "name": "AK2",
                    "type": "synonym"
                },
                {
                    "name": "Ak2",
                    "type": "synonym"
                }
            ],
            "record_id": "P29410-1",
            "evidence": [
                {
                    "id": "0060020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9U915-1",
            "uniprot_ac": "Q9U915",
            "uniprot_id": "KAD2_DROME",
            "refseq_ac": "NP_523836",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate kinase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.3",
                    "type": "synonym"
                },
                {
                    "name": "ATP-AMP transphosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "ATP:AMP phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate kinase cytosolic and mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate monophosphate kinase",
                    "type": "synonym"
                },
                {
                    "name": "Adk2-44B",
                    "type": "synonym"
                },
                {
                    "name": "Adk2-60B",
                    "type": "synonym"
                },
                {
                    "name": "Ak2-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG3140-PA",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ak2",
                    "type": "recommended"
                },
                {
                    "name": "ADK-2",
                    "type": "synonym"
                },
                {
                    "name": "Adk2-44B",
                    "type": "synonym"
                },
                {
                    "name": "Adk2-60B",
                    "type": "synonym"
                },
                {
                    "name": "Adk2",
                    "type": "synonym"
                },
                {
                    "name": "Ak2",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:SD09634",
                    "type": "synonym"
                },
                {
                    "name": "CG3140",
                    "type": "synonym"
                },
                {
                    "name": "Dak2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3140",
                    "type": "synonym"
                },
                {
                    "name": "anon-Dak2",
                    "type": "synonym"
                },
                {
                    "name": "l(2)04201",
                    "type": "synonym"
                },
                {
                    "name": "l(2)04209",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k04201",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k04209",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k16120",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9U915-1",
            "evidence": [
                {
                    "id": "0060020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NWW5-1",
            "uniprot_ac": "Q9NWW5",
            "uniprot_id": "CLN6_HUMAN",
            "refseq_ac": "NP_060352",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceroid-lipofuscinosis neuronal protein 6",
                    "type": "recommended"
                },
                {
                    "name": "Protein CLN6",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis neuronal 6 late infantile",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis neuronal protein 6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis neuronal protein 6",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 6, late infantile",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLN6",
                    "type": "recommended"
                },
                {
                    "name": "CLN4A",
                    "type": "synonym"
                },
                {
                    "name": "CLN6A",
                    "type": "synonym"
                },
                {
                    "name": "CLN6",
                    "type": "synonym"
                },
                {
                    "name": "HsT18960",
                    "type": "synonym"
                },
                {
                    "name": "nclf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NWW5-1",
            "evidence": [
                {
                    "id": "0060020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060020"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060020"
}