{
    "disease_id": "DOID:0050593",
    "recommended_name": {
        "id": "DOID:0050593",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050593",
        "name": "primary congenital glaucoma",
        "description": "A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities."
    },
    "synonyms": [
        {
            "id": "MONDO:0013121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013121",
            "name": "glaucoma 3, primary congenital, C",
            "description": ""
        },
        {
            "id": "MONDO:0013121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013121",
            "name": "GLC3C",
            "description": ""
        },
        {
            "id": "MONDO:0013121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013121",
            "name": "glaucoma 3, primary congenital, C",
            "description": ""
        },
        {
            "id": "MONDO:0013122",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013122",
            "name": "glaucoma 3, primary congenital, D",
            "description": ""
        },
        {
            "id": "MONDO:0013122",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013122",
            "name": "glaucoma 3, primary congenital, D",
            "description": ""
        },
        {
            "id": "MONDO:0013122",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013122",
            "name": "glaucoma 3, primary congenital, type D",
            "description": ""
        },
        {
            "id": "MONDO:0013122",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013122",
            "name": "GLC3D",
            "description": ""
        },
        {
            "id": "MIM:613086",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613086",
            "name": "Glaucoma 3, primary congenital, D",
            "description": "Glaucoma 3, primary congenital, D"
        }
    ],
    "children": [
        {
            "id": "DOID:11212",
            "label": "hydrophthalmos",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:11211",
                    "label": "buphthalmos",
                    "link_status": true,
                    "children": []
                }
            ]
        }
    ],
    "id_list": [
        "DOID:0050593",
        "DOID:11212",
        "DOID:11211"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050593",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050593",
            "categories": []
        },
        {
            "id": "MONDO:0013121",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013121",
            "categories": []
        },
        {
            "id": "MONDO:0013122",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013122",
            "categories": []
        },
        {
            "id": "MIM:613086",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613086",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q03147-1",
            "uniprot_ac": "Q03147",
            "uniprot_id": "CDK7_MOUSE",
            "refseq_ac": "NP_034004",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 7",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "39 kDa protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "CDK-activating kinase",
                    "type": "synonym"
                },
                {
                    "name": "CR4 protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "CRK4 PK (CDC2-related-kinase-4 protein kinase)",
                    "type": "synonym"
                },
                {
                    "name": "CRK4",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "P39 Mo15",
                    "type": "synonym"
                },
                {
                    "name": "Protein-tyrosine kinase MPK-7",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex kinase subunit",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "protein-tyrosine kinase MPK-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdk7",
                    "type": "recommended"
                },
                {
                    "name": "C230069N13",
                    "type": "synonym"
                },
                {
                    "name": "CAK",
                    "type": "synonym"
                },
                {
                    "name": "Cak",
                    "type": "synonym"
                },
                {
                    "name": "Cdk7",
                    "type": "synonym"
                },
                {
                    "name": "Cdkn7",
                    "type": "synonym"
                },
                {
                    "name": "Crk4",
                    "type": "synonym"
                },
                {
                    "name": "Mo15",
                    "type": "synonym"
                },
                {
                    "name": "Mpk-7",
                    "type": "synonym"
                },
                {
                    "name": "P39 Mo15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03147-1",
            "evidence": [
                {
                    "id": "0050593",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050593"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14767-1",
            "uniprot_ac": "Q14767",
            "uniprot_id": "LTBP2_HUMAN",
            "refseq_ac": "NP_000419",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Latent-transforming growth factor beta-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "LTBP-2",
                    "type": "synonym"
                },
                {
                    "name": "latent-transforming growth factor beta-binding protein 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LTBP2",
                    "type": "recommended"
                },
                {
                    "name": "C14orf141",
                    "type": "synonym"
                },
                {
                    "name": "GLC3D",
                    "type": "synonym"
                },
                {
                    "name": "LTBP2",
                    "type": "synonym"
                },
                {
                    "name": "LTBP3",
                    "type": "synonym"
                },
                {
                    "name": "MSPKA",
                    "type": "synonym"
                },
                {
                    "name": "MSTP031",
                    "type": "synonym"
                },
                {
                    "name": "WMS3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14767-1",
            "evidence": [
                {
                    "id": "613086",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06242-1",
            "uniprot_ac": "P06242",
            "uniprot_id": "KIN28_YEAST",
            "refseq_ac": "NP_010175",
            "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": "Serine/threonine-protein kinase KIN28",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH complex serine/threonine-protein kinase subunit KIN28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIN28",
                    "type": "recommended"
                },
                {
                    "name": "D2330",
                    "type": "synonym"
                },
                {
                    "name": "KIN28",
                    "type": "synonym"
                }
            ],
            "record_id": "P06242-1",
            "evidence": [
                {
                    "id": "0050593",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050593"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51952-1",
            "uniprot_ac": "P51952",
            "uniprot_id": "CDK7_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 7",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "39 protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "CDK-activating kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "P39 Mo15",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex kinase subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdk7",
                    "type": "recommended"
                },
                {
                    "name": "Cak1",
                    "type": "synonym"
                },
                {
                    "name": "Cak",
                    "type": "synonym"
                },
                {
                    "name": "Mo15",
                    "type": "synonym"
                }
            ],
            "record_id": "P51952-1",
            "evidence": [
                {
                    "id": "0050593",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050593"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24216-1",
            "uniprot_ac": "Q24216",
            "uniprot_id": "Q24216_DROME",
            "refseq_ac": "NP_511044",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 7",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "CG3319-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cdk7-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-dependent kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "Mo15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdk7",
                    "type": "recommended"
                },
                {
                    "name": "CD 7",
                    "type": "synonym"
                },
                {
                    "name": "CDK7",
                    "type": "synonym"
                },
                {
                    "name": "CG3319",
                    "type": "synonym"
                },
                {
                    "name": "Cdk7",
                    "type": "synonym"
                },
                {
                    "name": "DmCDK7",
                    "type": "synonym"
                },
                {
                    "name": "DmCdk7",
                    "type": "synonym"
                },
                {
                    "name": "DmMO15",
                    "type": "synonym"
                },
                {
                    "name": "DmMo15",
                    "type": "synonym"
                },
                {
                    "name": "Dmcdk7",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3319",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3319",
                    "type": "synonym"
                },
                {
                    "name": "Mo15",
                    "type": "synonym"
                },
                {
                    "name": "cdk-7",
                    "type": "synonym"
                },
                {
                    "name": "cdk7",
                    "type": "synonym"
                },
                {
                    "name": "dCdk7",
                    "type": "synonym"
                },
                {
                    "name": "p40[MO15]",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24216-1",
            "evidence": [
                {
                    "id": "0050593",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050593"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50613-1",
            "uniprot_ac": "P50613",
            "uniprot_id": "CDK7_HUMAN",
            "refseq_ac": "NP_001310998",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 7",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "39 KDa protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "39 kDa protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "CDK-activating kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex kinase subunit",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 7 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "homolog of Xenopus MO15 Cdk-activating kinase",
                    "type": "synonym"
                },
                {
                    "name": "kinase subunit of CAK",
                    "type": "synonym"
                },
                {
                    "name": "p39 Mo15",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine kinase stk1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase MO15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDK7",
                    "type": "recommended"
                },
                {
                    "name": "CAK1",
                    "type": "synonym"
                },
                {
                    "name": "CAK",
                    "type": "synonym"
                },
                {
                    "name": "CDK7",
                    "type": "synonym"
                },
                {
                    "name": "CDKN7",
                    "type": "synonym"
                },
                {
                    "name": "HCAK",
                    "type": "synonym"
                },
                {
                    "name": "MO15",
                    "type": "synonym"
                },
                {
                    "name": "STK1",
                    "type": "synonym"
                },
                {
                    "name": "p39MO15",
                    "type": "synonym"
                }
            ],
            "record_id": "P50613-1",
            "evidence": [
                {
                    "id": "0050593",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050593"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050593"
}