{
    "disease_id": "DOID:0111570",
    "recommended_name": {
        "id": "DOID:0111570",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111570",
        "name": "snowflake vitreoretinal degeneration",
        "description": "An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111570",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111570",
            "name": "SVD",
            "description": ""
        },
        {
            "id": "DOID:0111570",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111570",
            "name": "vitreoretinal degeneration, snowflake type",
            "description": ""
        },
        {
            "id": "MONDO:0008663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008663",
            "name": "snowflake vitreoretinal degeneration",
            "description": "Snowflake vitreoretinal degeneration (SVD) is characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localized to a small region on chromosome 2q36."
        },
        {
            "id": "MONDO:0008663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008663",
            "name": "snowflake vitreoretinal degeneration",
            "description": ""
        },
        {
            "id": "MONDO:0008663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008663",
            "name": "SVD",
            "description": ""
        },
        {
            "id": "MONDO:0008663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008663",
            "name": "snowflake degeneration in hereditary vitreoretinal degeneration",
            "description": ""
        },
        {
            "id": "MONDO:0008663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008663",
            "name": "vitreoretinal degeneration, snowflake type",
            "description": ""
        },
        {
            "id": "MIM:193230",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/193230",
            "name": "Snowflake vitreoretinal degeneration",
            "description": "Snowflake vitreoretinal degeneration"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111570"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111570",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111570",
            "categories": []
        },
        {
            "id": "MONDO:0008663",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008663",
            "categories": []
        },
        {
            "id": "MIM:193230",
            "database": "MIM",
            "url": "https://www.omim.org/entry/193230",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HB00-1",
            "uniprot_ac": "A0AC58HB00",
            "uniprot_id": "A0AC58HB00_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inward rectifier potassium channel 13 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnj13",
                    "type": "recommended"
                },
                {
                    "name": "kir7.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HB00-1",
            "evidence": [
                {
                    "id": "0111570",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111570"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P86046-1",
            "uniprot_ac": "P86046",
            "uniprot_id": "KCJ13_MOUSE",
            "refseq_ac": "NP_001103697",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inward rectifier potassium channel 13",
                    "type": "recommended"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir7.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 13",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir7.1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier potassium channel 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnj13",
                    "type": "recommended"
                },
                {
                    "name": "100040591",
                    "type": "synonym"
                },
                {
                    "name": "Kcnj13",
                    "type": "synonym"
                },
                {
                    "name": "Kir7.1",
                    "type": "synonym"
                }
            ],
            "record_id": "P86046-1",
            "evidence": [
                {
                    "id": "0111570",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111570"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60928-1",
            "uniprot_ac": "O60928",
            "uniprot_id": "KCJ13_HUMAN",
            "refseq_ac": "NP_001165887",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inward rectifier potassium channel 13",
                    "type": "recommended"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir7.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 13",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir7.1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier potassium channel 13 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J, member 13",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNJ13",
                    "type": "recommended"
                },
                {
                    "name": "KCNJ13",
                    "type": "synonym"
                },
                {
                    "name": "KIR1.4",
                    "type": "synonym"
                },
                {
                    "name": "KIR7.1",
                    "type": "synonym"
                },
                {
                    "name": "LCA16",
                    "type": "synonym"
                },
                {
                    "name": "SVD",
                    "type": "synonym"
                }
            ],
            "record_id": "O60928-1",
            "evidence": [
                {
                    "id": "193230",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/193230"
                },
                {
                    "id": "0111570",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111570"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70617-1",
            "uniprot_ac": "O70617",
            "uniprot_id": "KCJ13_RAT",
            "refseq_ac": "NP_446060",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inward rectifier potassium channel 13",
                    "type": "recommended"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir7.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 13",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir7.1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier potassium channel 13",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 13",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnj13",
                    "type": "recommended"
                },
                {
                    "name": "Kcnj13",
                    "type": "synonym"
                },
                {
                    "name": "Kir7.1",
                    "type": "synonym"
                }
            ],
            "record_id": "O70617-1",
            "evidence": [
                {
                    "id": "0111570",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111570"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111570"
}