{
    "disease_id": "DOID:0060838",
    "recommended_name": {
        "id": "DOID:0060838",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060838",
        "name": "isolated microphthalmia 7",
        "description": "An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060838",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060838",
            "name": "MCOP7",
            "description": ""
        },
        {
            "id": "MONDO:0013377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013377",
            "name": "isolated microphthalmia 7",
            "description": "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene."
        },
        {
            "id": "MONDO:0013377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013377",
            "name": "GDF3 isolated microphthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0013377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013377",
            "name": "MCOP7",
            "description": ""
        },
        {
            "id": "MONDO:0013377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013377",
            "name": "isolated microphthalmia caused by mutation in GDF3",
            "description": ""
        },
        {
            "id": "MONDO:0013377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013377",
            "name": "isolated microphthalmia type 7",
            "description": ""
        },
        {
            "id": "MONDO:0013377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013377",
            "name": "microphthalmia, isolated type 7",
            "description": ""
        },
        {
            "id": "MONDO:0013377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013377",
            "name": "microphthalmia, isolated 7",
            "description": ""
        },
        {
            "id": "MIM:613704",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613704",
            "name": "Microphthalmia, isolated, 7",
            "description": "Microphthalmia, isolated, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060838"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060838",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060838",
            "categories": []
        },
        {
            "id": "MONDO:0013377",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013377",
            "categories": []
        },
        {
            "id": "MIM:613704",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613704",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P35621-1",
            "uniprot_ac": "P35621",
            "uniprot_id": "DVR1_DANRE",
            "refseq_ac": "NP_571023",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein DVR-1",
                    "type": "recommended"
                },
                {
                    "name": "decapentaplegic and Vg-related 1",
                    "type": "synonym"
                },
                {
                    "name": "protein DVR-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein DVR-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dvr1",
                    "type": "recommended"
                },
                {
                    "name": "gdf3",
                    "type": "recommended"
                },
                {
                    "name": "DVR-1",
                    "type": "synonym"
                },
                {
                    "name": "VG1",
                    "type": "synonym"
                },
                {
                    "name": "cb556",
                    "type": "synonym"
                },
                {
                    "name": "dvr-1",
                    "type": "synonym"
                },
                {
                    "name": "dvr1",
                    "type": "synonym"
                },
                {
                    "name": "gdf3",
                    "type": "synonym"
                },
                {
                    "name": "vg1",
                    "type": "synonym"
                },
                {
                    "name": "zDVR-1",
                    "type": "synonym"
                },
                {
                    "name": "zDVR1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103542",
                    "type": "synonym"
                }
            ],
            "record_id": "P35621-1",
            "evidence": [
                {
                    "id": "0060838",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060838"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07104-1",
            "uniprot_ac": "Q07104",
            "uniprot_id": "GDF3_MOUSE",
            "refseq_ac": "NP_032134",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 3",
                    "type": "recommended"
                },
                {
                    "name": "GDF-3",
                    "type": "synonym"
                },
                {
                    "name": "VG-1-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 3 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdf3",
                    "type": "recommended"
                },
                {
                    "name": "Gdf-3",
                    "type": "synonym"
                },
                {
                    "name": "Gdf3",
                    "type": "synonym"
                },
                {
                    "name": "Vgr-2",
                    "type": "synonym"
                },
                {
                    "name": "Vgr2",
                    "type": "synonym"
                },
                {
                    "name": "ecat9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07104-1",
            "evidence": [
                {
                    "id": "0060838",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060838"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NR23-1",
            "uniprot_ac": "Q9NR23",
            "uniprot_id": "GDF3_HUMAN",
            "refseq_ac": "NP_065685",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 3",
                    "type": "recommended"
                },
                {
                    "name": "GDF-3",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 3 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GDF3",
                    "type": "recommended"
                },
                {
                    "name": "GDF3",
                    "type": "synonym"
                },
                {
                    "name": "KFS3",
                    "type": "synonym"
                },
                {
                    "name": "MCOP7",
                    "type": "synonym"
                },
                {
                    "name": "MCOPCB6",
                    "type": "synonym"
                },
                {
                    "name": "PRO248",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NR23-1",
            "evidence": [
                {
                    "id": "613704",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613704"
                },
                {
                    "id": "0060838",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060838"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2SY89-1",
            "uniprot_ac": "A2SY89",
            "uniprot_id": "A2SY89_RAT",
            "refseq_ac": "NP_001103141",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 3",
                    "type": "recommended"
                },
                {
                    "name": "growth/differentiation factor 3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdf3",
                    "type": "recommended"
                },
                {
                    "name": "Gdf3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564178",
                    "type": "synonym"
                }
            ],
            "record_id": "A2SY89-1",
            "evidence": [
                {
                    "id": "0060838",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060838"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060838"
}