{
    "disease_id": "DOID:0051004",
    "recommended_name": {
        "id": "DOID:0051004",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0051004",
        "name": "congenital nonspherocytic hemolytic anemia 3",
        "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "MONDO:0012967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012967",
            "name": "hemolytic anemia due to adenylate kinase deficiency",
            "description": "Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment."
        },
        {
            "id": "MONDO:0012967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012967",
            "name": "adenylate kinase deficiency, hemolytic anaemia due to",
            "description": ""
        },
        {
            "id": "MONDO:0012967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012967",
            "name": "adenylate kinase deficiency, hemolytic anemia due to",
            "description": ""
        },
        {
            "id": "MIM:612631",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612631",
            "name": "Anemia, congenital, non-spherocytic hemolytic, 3",
            "description": "Anemia, congenital, non-spherocytic hemolytic, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051004"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051004",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0051004",
            "categories": []
        },
        {
            "id": "MONDO:0012967",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012967",
            "categories": []
        },
        {
            "id": "MIM:612631",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612631",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8IQG9-1",
            "uniprot_ac": "Q8IQG9",
            "uniprot_id": "KAD1_DROME",
            "refseq_ac": "NP_524038",
            "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 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ATP-AMP transphosphorylase Ak1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG17146-PA; Ak1-PA; adenylate kinase-1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase 1, isoform A",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ak1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ADK-1; adk1; Adk1; AK1; bs34e10.y1; CG17146; Dak1; DAK1; Dmel\\CG17146",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Adk1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ak1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG17146",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dak1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051004",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051004"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0Y5-1",
            "uniprot_ac": "Q9R0Y5",
            "uniprot_id": "KAD1_MOUSE",
            "refseq_ac": "NP_001185719",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate kinase isoenzyme 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "2.7.4.4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "2.7.4.6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "AK 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ATP-AMP transphosphorylase 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ATP:AMP phosphotransferase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate monophosphate kinase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Myokinase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase isoenzyme 1 isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic adenylate kinase",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ak1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ak-1; B430205N08Rik",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ak1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051004",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051004"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75503-1",
            "uniprot_ac": "O75503",
            "uniprot_id": "CLN5_HUMAN",
            "refseq_ac": "NP_006484",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bis(monoacylglycero)phosphate synthase CLN5",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.22",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "BMP synthase CLN5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ceroid-lipofuscinosis neuronal protein 5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Palmitoyl protein thioesterase CLN5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein CLN5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "S-depalmitoylase CLN5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "bis(monoacylglycero)phosphate synthase CLN5 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis neuronal protein 5; ceroid-lipofuscinosis, neuronal 5; BMP synthase CLN5; S-depalmitoylase CLN5; palmitoyl protein thioesterase CLN5; bis(monoacylglycero)phosphate synthase CLN5",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLN5",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "BMPS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CLN5",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051004",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051004"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00568-1",
            "uniprot_ac": "P00568",
            "uniprot_id": "KAD1_HUMAN",
            "refseq_ac": "NP_000467",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate kinase isoenzyme 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "2.7.4.4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "2.7.4.6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "AK 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ATP-AMP transphosphorylase 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ATP:AMP phosphotransferase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate monophosphate kinase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Myokinase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase isoenzyme 1 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase isoenzyme 1; myokinase; ATP-AMP transphosphorylase 1; ATP:AMP phosphotransferase; adenylate monophosphate kinase; testis secretory sperm binding protein Li 58j; epididymis secretory sperm binding protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AK1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ADK; Adk1; CNSHA3; HTL-S-58j",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "AK1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051004",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051004"
                },
                {
                    "id": "612631",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612631"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68EH2-1",
            "uniprot_ac": "Q68EH2",
            "uniprot_id": "Q68EH2_DANRE",
            "refseq_ac": "NP_001003993",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate kinase isoenzyme 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "2.7.4.6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "AK 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ATP-AMP transphosphorylase 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ATP:AMP phosphotransferase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate monophosphate kinase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Myokinase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase isoenzyme 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ak1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "AK1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ak1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91930",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91930",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051004",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051004"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39069-1",
            "uniprot_ac": "P39069",
            "uniprot_id": "KAD1_RAT",
            "refseq_ac": "NP_077325",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate kinase isoenzyme 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "2.7.4.4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "2.7.4.6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "AK 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ATP-AMP transphosphorylase 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ATP:AMP phosphotransferase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate monophosphate kinase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Myokinase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase isoenzyme 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "myokinase; ATP:AMP phosphotransferase; ATP-AMP transphosphorylase 1; adenylate monophosphate kinase; adenylate kinase isoenzyme 1-like",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ak1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "AABR07051450.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "AK1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ak 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ak1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051004",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051004"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051004"
}