{
    "disease_id": "DOID:0060837",
    "recommended_name": {
        "id": "DOID:0060837",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060837",
        "name": "isolated microphthalmia 5",
        "description": "An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0060837",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060837",
            "name": "MCOP5",
            "description": ""
        },
        {
            "id": "DOID:0060837",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060837",
            "name": "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060837",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060837",
            "name": "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "isolated microphthalmia 5",
            "description": "Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene."
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "MCOP5",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "MFRP isolated microphthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "isolated microphthalmia 5",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "isolated microphthalmia caused by mutation in MFRP",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "isolated microphthalmia type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "microphthalmia, isolated type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "microphthalmia, isolated 5",
            "description": ""
        },
        {
            "id": "MIM:611040",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611040",
            "name": "Microphthalmia, isolated, 5",
            "description": "Microphthalmia, isolated, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060837"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060837",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060837",
            "categories": []
        },
        {
            "id": "MONDO:0012605",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "categories": []
        },
        {
            "id": "MIM:611040",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611040",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K480-1",
            "uniprot_ac": "Q8K480",
            "uniprot_id": "MFRP_MOUSE",
            "refseq_ac": "NP_001177242",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane frizzled-related protein",
                    "type": "recommended"
                },
                {
                    "name": "Membrane frizzled-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-type frizzled-related protein",
                    "type": "synonym"
                },
                {
                    "name": "adiponectin e",
                    "type": "synonym"
                },
                {
                    "name": "complement C1q tumor necrosis factor-related protein 5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement C1q tumor necrosis factor-related protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mfrp",
                    "type": "recommended"
                },
                {
                    "name": "Adie",
                    "type": "synonym"
                },
                {
                    "name": "C1qtnf5",
                    "type": "synonym"
                },
                {
                    "name": "Ctrp5",
                    "type": "synonym"
                },
                {
                    "name": "Mfrp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K480-1",
            "evidence": [
                {
                    "id": "0060837",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060837"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K479-1",
            "uniprot_ac": "Q8K479",
            "uniprot_id": "C1QT5_MOUSE",
            "refseq_ac": "NP_001035721",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C1q tumor necrosis factor-related protein 5",
                    "type": "recommended"
                },
                {
                    "name": "Membrane frizzled-related protein",
                    "type": "synonym"
                },
                {
                    "name": "adiponectin e",
                    "type": "synonym"
                },
                {
                    "name": "complement C1q tumor necrosis factor-related protein 5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement C1q tumor necrosis factor-related protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1qtnf5",
                    "type": "recommended"
                },
                {
                    "name": "Adie",
                    "type": "synonym"
                },
                {
                    "name": "C1qtnf5",
                    "type": "synonym"
                },
                {
                    "name": "Ctrp5",
                    "type": "synonym"
                },
                {
                    "name": "Mfrp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K479-1",
            "evidence": [
                {
                    "id": "0060837",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060837"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BY79-1",
            "uniprot_ac": "Q9BY79",
            "uniprot_id": "MFRP_HUMAN",
            "refseq_ac": "NP_113621",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane frizzled-related protein",
                    "type": "recommended"
                },
                {
                    "name": "C1q and TNF related 5",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-type frizzled-related protein",
                    "type": "synonym"
                },
                {
                    "name": "membrane frizzled-related protein",
                    "type": "synonym"
                },
                {
                    "name": "membrane-type frizzled-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MFRP",
                    "type": "recommended"
                },
                {
                    "name": "CTRP5",
                    "type": "synonym"
                },
                {
                    "name": "MCOP5",
                    "type": "synonym"
                },
                {
                    "name": "MFRP",
                    "type": "synonym"
                },
                {
                    "name": "NNO2",
                    "type": "synonym"
                },
                {
                    "name": "RD6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BY79-1",
            "evidence": [
                {
                    "id": "611040",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611040"
                },
                {
                    "id": "0060837",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060837"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZU82-1",
            "uniprot_ac": "D3ZU82",
            "uniprot_id": "D3ZU82_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": "Membrane frizzled-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mfrp",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZU82-1",
            "evidence": [
                {
                    "id": "0060837",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060837"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060837"
}