{
    "disease_id": "DOID:0110395",
    "recommended_name": {
        "id": "DOID:0110395",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110395",
        "name": "retinitis pigmentosa 72",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110395",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110395",
            "name": "RP72",
            "description": ""
        },
        {
            "id": "MONDO:0014653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014653",
            "name": "retinitis pigmentosa 72",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene."
        },
        {
            "id": "MONDO:0014653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014653",
            "name": "RP72",
            "description": ""
        },
        {
            "id": "MONDO:0014653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014653",
            "name": "ZNF408 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0014653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014653",
            "name": "retinitis pigmentosa 72",
            "description": ""
        },
        {
            "id": "MONDO:0014653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014653",
            "name": "retinitis pigmentosa caused by mutation in ZNF408",
            "description": ""
        },
        {
            "id": "MONDO:0014653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014653",
            "name": "retinitis pigmentosa type 72",
            "description": ""
        },
        {
            "id": "MIM:616469",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616469",
            "name": "Retinitis pigmentosa 72",
            "description": "Retinitis pigmentosa 72"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110395"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110395",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110395",
            "categories": []
        },
        {
            "id": "MONDO:0014653",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014653",
            "categories": []
        },
        {
            "id": "MIM:616469",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616469",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FAN3-1",
            "uniprot_ac": "E7FAN3",
            "uniprot_id": "E7FAN3_DANRE",
            "refseq_ac": "NP_001315204",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 408",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 408",
                    "type": "synonym"
                },
                {
                    "name": "zmp:0000000586",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "znf408",
                    "type": "recommended"
                },
                {
                    "name": "znf408",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FAN3-1",
            "evidence": [
                {
                    "id": "0110395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "H7BX78-1",
            "uniprot_ac": "H7BX78",
            "uniprot_id": "H7BX78_MOUSE",
            "refseq_ac": "NP_001334104",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 408",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 408 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zfp408",
                    "type": "recommended"
                },
                {
                    "name": "Gm1011",
                    "type": "synonym"
                },
                {
                    "name": "Zfp408",
                    "type": "synonym"
                }
            ],
            "record_id": "H7BX78-1",
            "evidence": [
                {
                    "id": "0110395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H9D4-1",
            "uniprot_ac": "Q9H9D4",
            "uniprot_id": "ZN408_HUMAN",
            "refseq_ac": "NP_001171680",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 408",
                    "type": "recommended"
                },
                {
                    "name": "PR domain zinc finger protein 17",
                    "type": "synonym"
                },
                {
                    "name": "PR/SET domain 17",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 408 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZNF408",
                    "type": "recommended"
                },
                {
                    "name": "EVR6",
                    "type": "synonym"
                },
                {
                    "name": "PFM14",
                    "type": "synonym"
                },
                {
                    "name": "PRDM17",
                    "type": "synonym"
                },
                {
                    "name": "RP72",
                    "type": "synonym"
                },
                {
                    "name": "ZNF408",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H9D4-1",
            "evidence": [
                {
                    "id": "616469",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616469"
                },
                {
                    "id": "0110395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110395"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110395"
}