{
    "disease_id": "DOID:0080729",
    "recommended_name": {
        "id": "DOID:0080729",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080729",
        "name": "brittle cornea syndrome 2",
        "description": "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27."
    },
    "synonyms": [
        {
            "id": "MONDO:0013605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013605",
            "name": "brittle cornea syndrome 2",
            "description": "Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene."
        },
        {
            "id": "MONDO:0013605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013605",
            "name": "PRDM5 brittle cornea syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013605",
            "name": "brittle cornea syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013605",
            "name": "brittle cornea syndrome caused by mutation in PRDM5",
            "description": ""
        },
        {
            "id": "MONDO:0013605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013605",
            "name": "brittle cornea syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013605",
            "name": "BCS2",
            "description": ""
        },
        {
            "id": "MIM:614170",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614170",
            "name": "Brittle cornea syndrome 2",
            "description": "Brittle cornea syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080729"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080729",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080729",
            "categories": []
        },
        {
            "id": "MONDO:0013605",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013605",
            "categories": []
        },
        {
            "id": "MIM:614170",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614170",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q8J8-1",
            "uniprot_ac": "F1Q8J8",
            "uniprot_id": "F1Q8J8_DANRE",
            "refseq_ac": "NP_001002301",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 5",
                    "type": "recommended"
                },
                {
                    "name": "PR domain zinc finger protein 5",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "un-named hi61",
                    "type": "synonym"
                },
                {
                    "name": "unm hi61",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prdm5",
                    "type": "recommended"
                },
                {
                    "name": "prdm5",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q8J8-1",
            "evidence": [
                {
                    "id": "0080729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CXE0-1",
            "uniprot_ac": "Q9CXE0",
            "uniprot_id": "PRDM5_MOUSE",
            "refseq_ac": "NP_081823",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 5",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "PR domain zinc finger protein 5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "PR domain zinc finger protein 5",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prdm5",
                    "type": "recommended"
                },
                {
                    "name": "4432417F03Rik",
                    "type": "synonym"
                },
                {
                    "name": "6530401I24Rik",
                    "type": "synonym"
                },
                {
                    "name": "E130112L17Rik",
                    "type": "synonym"
                },
                {
                    "name": "PFM2",
                    "type": "synonym"
                },
                {
                    "name": "Prdm5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CXE0-1",
            "evidence": [
                {
                    "id": "0080729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQX1-1",
            "uniprot_ac": "Q9NQX1",
            "uniprot_id": "PRDM5_HUMAN",
            "refseq_ac": "NP_001287752",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 5",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "PR domain 5",
                    "type": "synonym"
                },
                {
                    "name": "PR domain containing 5",
                    "type": "synonym"
                },
                {
                    "name": "PR domain zinc finger protein 5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "PR domain zinc finger protein 5",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRDM5",
                    "type": "recommended"
                },
                {
                    "name": "BCS2",
                    "type": "synonym"
                },
                {
                    "name": "PFM2",
                    "type": "synonym"
                },
                {
                    "name": "PRDM5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQX1-1",
            "evidence": [
                {
                    "id": "614170",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614170"
                },
                {
                    "id": "0080729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LNR1-1",
            "uniprot_ac": "A0ABK0LNR1",
            "uniprot_id": "A0ABK0LNR1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prdm5",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LNR1-1",
            "evidence": [
                {
                    "id": "0080729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080729"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080729"
}