{
    "disease_id": "DOID:0110245",
    "recommended_name": {
        "id": "DOID:0110245",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110245",
        "name": "cataract 38",
        "description": "A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34."
    },
    "synonyms": [
        {
            "id": "DOID:0110245",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110245",
            "name": "CATC5",
            "description": ""
        },
        {
            "id": "DOID:0110245",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110245",
            "name": "CTRCT38",
            "description": ""
        },
        {
            "id": "DOID:0110245",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110245",
            "name": "autosomal recessive congenital cataract 5",
            "description": ""
        },
        {
            "id": "MONDO:0013859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013859",
            "name": "cataract 38",
            "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene."
        },
        {
            "id": "MONDO:0013859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013859",
            "name": "AGK early-onset non-syndromic cataract",
            "description": ""
        },
        {
            "id": "MONDO:0013859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013859",
            "name": "CATC5",
            "description": ""
        },
        {
            "id": "MONDO:0013859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013859",
            "name": "CTRCT38",
            "description": ""
        },
        {
            "id": "MONDO:0013859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013859",
            "name": "cataract 38",
            "description": ""
        },
        {
            "id": "MONDO:0013859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013859",
            "name": "cataract 38, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013859",
            "name": "cataract type 38",
            "description": ""
        },
        {
            "id": "MONDO:0013859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013859",
            "name": "early-onset non-syndromic cataract caused by mutation in AGK",
            "description": ""
        },
        {
            "id": "MIM:614691",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614691",
            "name": "Cataract 38",
            "description": "Cataract 38"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110245"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110245",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110245",
            "categories": []
        },
        {
            "id": "MONDO:0013859",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013859",
            "categories": []
        },
        {
            "id": "MIM:614691",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614691",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZW00-1",
            "uniprot_ac": "Q7ZW00",
            "uniprot_id": "AGK_DANRE",
            "refseq_ac": "NP_956174",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acylglycerol kinase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.107",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.138",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.94",
                    "type": "synonym"
                },
                {
                    "name": "MuLK",
                    "type": "synonym"
                },
                {
                    "name": "Multi-substrate lipid kinase",
                    "type": "synonym"
                },
                {
                    "name": "Multiple substrate lipid kinase",
                    "type": "synonym"
                },
                {
                    "name": "acylglycerol kinase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "acylglycerol kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "multi-substrate lipid kinase",
                    "type": "synonym"
                },
                {
                    "name": "multiple substrate lipid kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "agk",
                    "type": "recommended"
                },
                {
                    "name": "agk",
                    "type": "synonym"
                },
                {
                    "name": "fi38e09",
                    "type": "synonym"
                },
                {
                    "name": "mulk",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-238n5.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi38e09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55462",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZW00-1",
            "evidence": [
                {
                    "id": "0110245",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110245"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ESW4-1",
            "uniprot_ac": "Q9ESW4",
            "uniprot_id": "AGK_MOUSE",
            "refseq_ac": "NP_076027",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acylglycerol kinase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.107",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.138",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.94",
                    "type": "synonym"
                },
                {
                    "name": "MuLK",
                    "type": "synonym"
                },
                {
                    "name": "Multi-substrate lipid kinase",
                    "type": "synonym"
                },
                {
                    "name": "Multiple substrate lipid kinase",
                    "type": "synonym"
                },
                {
                    "name": "acylglycerol kinase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "acylglycerol kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "multi-substrate lipid kinase",
                    "type": "synonym"
                },
                {
                    "name": "multiple substrate lipid kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agk",
                    "type": "recommended"
                },
                {
                    "name": "2610037M15Rik",
                    "type": "synonym"
                },
                {
                    "name": "6720408I04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Agk",
                    "type": "synonym"
                },
                {
                    "name": "Mulk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ESW4-1",
            "evidence": [
                {
                    "id": "0110245",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110245"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q53H12-1",
            "uniprot_ac": "Q53H12",
            "uniprot_id": "AGK_HUMAN",
            "refseq_ac": "NP_060708",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acylglycerol kinase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.107",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.138",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.94",
                    "type": "synonym"
                },
                {
                    "name": "HsMuLK",
                    "type": "synonym"
                },
                {
                    "name": "MuLK",
                    "type": "synonym"
                },
                {
                    "name": "Multi-substrate lipid kinase",
                    "type": "synonym"
                },
                {
                    "name": "Multiple substrate lipid kinase",
                    "type": "synonym"
                },
                {
                    "name": "acylglycerol kinase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "acylglycerol kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "hAGK",
                    "type": "synonym"
                },
                {
                    "name": "hsMuLK",
                    "type": "synonym"
                },
                {
                    "name": "multi-substrate lipid kinase",
                    "type": "synonym"
                },
                {
                    "name": "multiple substrate lipid kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AGK",
                    "type": "recommended"
                },
                {
                    "name": "AGK",
                    "type": "synonym"
                },
                {
                    "name": "CATC5",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT38",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS10",
                    "type": "synonym"
                },
                {
                    "name": "MULK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q53H12-1",
            "evidence": [
                {
                    "id": "614691",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614691"
                },
                {
                    "id": "0110245",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110245"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LLS2-1",
            "uniprot_ac": "A0ABK0LLS2",
            "uniprot_id": "A0ABK0LLS2_RAT",
            "refseq_ac": "NP_001120969",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acylglycerol kinase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.107",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.138",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.94",
                    "type": "synonym"
                },
                {
                    "name": "Multiple substrate lipid kinase",
                    "type": "synonym"
                },
                {
                    "name": "acylglycerol kinase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agk",
                    "type": "recommended"
                },
                {
                    "name": "Agk",
                    "type": "synonym"
                },
                {
                    "name": "RGD1562046",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LLS2-1",
            "evidence": [
                {
                    "id": "0110245",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110245"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL10-1",
            "uniprot_ac": "Q9VL10",
            "uniprot_id": "Q9VL10_DROME",
            "refseq_ac": "NP_723549",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acylglycerol kinase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.107",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.138",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.94",
                    "type": "synonym"
                },
                {
                    "name": "CG31873-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mulk-PA",
                    "type": "synonym"
                },
                {
                    "name": "Multi-substrate lipid kinase",
                    "type": "synonym"
                },
                {
                    "name": "Multiple substrate lipid kinase",
                    "type": "synonym"
                },
                {
                    "name": "anon-31BCb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mulk",
                    "type": "recommended"
                },
                {
                    "name": "CG18162",
                    "type": "synonym"
                },
                {
                    "name": "CG31873",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31873",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31873",
                    "type": "synonym"
                },
                {
                    "name": "Dmulk",
                    "type": "synonym"
                },
                {
                    "name": "Mulk",
                    "type": "synonym"
                },
                {
                    "name": "anon-31BCb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VL10-1",
            "evidence": [
                {
                    "id": "0110245",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110245"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110245"
}