{
    "disease_id": "DOID:0060305",
    "recommended_name": {
        "id": "DOID:0060305",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060305",
        "name": "megalocornea",
        "description": "A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060305",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060305",
            "name": "anterior megalophthalmos",
            "description": ""
        },
        {
            "id": "DOID:0060305",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060305",
            "name": "congenital anterior megalophthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0009576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009576",
            "name": "megalocornea",
            "description": ""
        },
        {
            "id": "MONDO:0009576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009576",
            "name": "megalocornea",
            "description": ""
        },
        {
            "id": "MONDO:0009576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009576",
            "name": "megalocornea (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0010649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010649",
            "name": "isolated congenital megalocornea",
            "description": "Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma."
        },
        {
            "id": "MONDO:0010649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010649",
            "name": "congenital anterior megalophthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0010649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010649",
            "name": "isolated congenital megalocornea",
            "description": ""
        },
        {
            "id": "MONDO:0010649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010649",
            "name": "megalocornea 1, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010649",
            "name": "MGC1",
            "description": ""
        },
        {
            "id": "MONDO:0010649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010649",
            "name": "megalocornea",
            "description": ""
        },
        {
            "id": "MIM:309300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309300",
            "name": "Megalocornea 1, X-linked",
            "description": "Megalocornea 1, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060305"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060305",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060305",
            "categories": []
        },
        {
            "id": "MONDO:0009576",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009576",
            "categories": []
        },
        {
            "id": "MONDO:0010649",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010649",
            "categories": []
        },
        {
            "id": "MIM:309300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/309300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q920C1-1",
            "uniprot_ac": "Q920C1",
            "uniprot_id": "CRDL1_MOUSE",
            "refseq_ac": "NP_001107857",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chordin-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Neuralin-1",
                    "type": "synonym"
                },
                {
                    "name": "Neurogenesin-1",
                    "type": "synonym"
                },
                {
                    "name": "Ventroptin",
                    "type": "synonym"
                },
                {
                    "name": "chordin-like protein 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "chordin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "neuralin-1",
                    "type": "synonym"
                },
                {
                    "name": "neurogenesin-1",
                    "type": "synonym"
                },
                {
                    "name": "ventroptin-alpha",
                    "type": "synonym"
                },
                {
                    "name": "ventroptin-beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chrdl1",
                    "type": "recommended"
                },
                {
                    "name": "CHL1",
                    "type": "synonym"
                },
                {
                    "name": "CHL",
                    "type": "synonym"
                },
                {
                    "name": "Chrdl1",
                    "type": "synonym"
                },
                {
                    "name": "Ng1",
                    "type": "synonym"
                },
                {
                    "name": "Nrln1",
                    "type": "synonym"
                },
                {
                    "name": "VOPT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q920C1-1",
            "evidence": [
                {
                    "id": "0060305",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060305"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08999-1",
            "uniprot_ac": "O08999",
            "uniprot_id": "LTBP2_MOUSE",
            "refseq_ac": "NP_038617",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "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 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ltbp2",
                    "type": "recommended"
                },
                {
                    "name": "Ltbp2",
                    "type": "synonym"
                }
            ],
            "record_id": "O08999-1",
            "evidence": [
                {
                    "id": "0060305",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060305"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BU40-6",
            "uniprot_ac": "Q9BU40",
            "uniprot_id": "CRDL1_HUMAN",
            "refseq_ac": "NP_001137453",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chordin-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Neuralin-1",
                    "type": "synonym"
                },
                {
                    "name": "Neurogenesin-1",
                    "type": "synonym"
                },
                {
                    "name": "Ventroptin",
                    "type": "synonym"
                },
                {
                    "name": "chordin-like protein 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "chordin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "neuralin-1",
                    "type": "synonym"
                },
                {
                    "name": "neurogenesin-1",
                    "type": "synonym"
                },
                {
                    "name": "ventroptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHRDL1",
                    "type": "recommended"
                },
                {
                    "name": "CHL",
                    "type": "synonym"
                },
                {
                    "name": "CHRDL1",
                    "type": "synonym"
                },
                {
                    "name": "MGC1",
                    "type": "synonym"
                },
                {
                    "name": "MGCN",
                    "type": "synonym"
                },
                {
                    "name": "NRLN1",
                    "type": "synonym"
                },
                {
                    "name": "VOPT",
                    "type": "synonym"
                },
                {
                    "name": "dA141H5.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BU40-6",
            "evidence": [
                {
                    "id": "309300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/309300"
                },
                {
                    "id": "0060305",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060305"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q76LD0-1",
            "uniprot_ac": "Q76LD0",
            "uniprot_id": "CRDL1_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": "Chordin-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Kohjirin",
                    "type": "synonym"
                },
                {
                    "name": "Neuralin-1",
                    "type": "synonym"
                },
                {
                    "name": "Neurogenesin-1",
                    "type": "synonym"
                },
                {
                    "name": "Ventroptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chrdl1",
                    "type": "recommended"
                },
                {
                    "name": "Kjr",
                    "type": "synonym"
                },
                {
                    "name": "Ng1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q76LD0-1",
            "evidence": [
                {
                    "id": "0060305",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060305"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35806-1",
            "uniprot_ac": "O35806",
            "uniprot_id": "LTBP2_RAT",
            "refseq_ac": "NP_067597",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Latent-transforming growth factor beta-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "LTBP-2 like protein",
                    "type": "synonym"
                },
                {
                    "name": "LTBP-2",
                    "type": "synonym"
                },
                {
                    "name": "latent-transforming growth factor beta-binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ltbp2",
                    "type": "recommended"
                },
                {
                    "name": "Ltbp2",
                    "type": "synonym"
                }
            ],
            "record_id": "O35806-1",
            "evidence": [
                {
                    "id": "0060305",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060305"
                }
            ]
        },
        {
            "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": "0060305",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060305"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060305"
}