{
    "disease_id": "DOID:0111010",
    "recommended_name": {
        "id": "DOID:0111010",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111010",
        "name": "cone-rod dystrophy 5",
        "description": "A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111010",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111010",
            "name": "CORD5",
            "description": ""
        },
        {
            "id": "MONDO:0010969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010969",
            "name": "cone-rod dystrophy 5",
            "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene."
        },
        {
            "id": "MONDO:0010969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010969",
            "name": "CORD5",
            "description": ""
        },
        {
            "id": "MONDO:0010969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010969",
            "name": "PITPNM3 cone-rod dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010969",
            "name": "cone-rod dystrophy 5",
            "description": ""
        },
        {
            "id": "MONDO:0010969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010969",
            "name": "cone-rod dystrophy caused by mutation in PITPNM3",
            "description": ""
        },
        {
            "id": "MONDO:0010969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010969",
            "name": "cone-rod dystrophy type 5",
            "description": ""
        },
        {
            "id": "MIM:600977",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600977",
            "name": "Cone-rod dystrophy 5",
            "description": "Cone-rod dystrophy 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111010"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111010",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111010",
            "categories": []
        },
        {
            "id": "MONDO:0010969",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010969",
            "categories": []
        },
        {
            "id": "MIM:600977",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600977",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P8F6-1",
            "uniprot_ac": "A0A8M1P8F6",
            "uniprot_id": "A0A8M1P8F6_DANRE",
            "refseq_ac": "NP_571650",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-associated phosphatidylinositol transfer protein 3",
                    "type": "recommended"
                },
                {
                    "name": "PITP-less RdgB-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol transfer protein, membrane-associated 3",
                    "type": "synonym"
                },
                {
                    "name": "Pyk2 N-terminal domain-interacting receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "zmp:0000000523",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "plrdgb",
                    "type": "recommended"
                },
                {
                    "name": "plrdgb",
                    "type": "synonym"
                },
                {
                    "name": "si:ch1073-443k13.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P8F6-1",
            "evidence": [
                {
                    "id": "0111010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UHE1-1",
            "uniprot_ac": "Q3UHE1",
            "uniprot_id": "PITM3_MOUSE",
            "refseq_ac": "NP_001020098",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-associated phosphatidylinositol transfer protein 3",
                    "type": "recommended"
                },
                {
                    "name": "NIR-1",
                    "type": "synonym"
                },
                {
                    "name": "PITPnm 3",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol transfer protein, membrane-associated 3",
                    "type": "synonym"
                },
                {
                    "name": "Pyk2 N-terminal domain-interacting receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated phosphatidylinositol transfer protein 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated phosphatidylinositol transfer protein 3",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol transfer protein, membrane-associated 3",
                    "type": "synonym"
                },
                {
                    "name": "pyk2 N-terminal domain-interacting receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pitpnm3",
                    "type": "recommended"
                },
                {
                    "name": "A330068P14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ackr6",
                    "type": "synonym"
                },
                {
                    "name": "Gm880",
                    "type": "synonym"
                },
                {
                    "name": "Nir1",
                    "type": "synonym"
                },
                {
                    "name": "Pitpnm3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UHE1-1",
            "evidence": [
                {
                    "id": "0111010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BZ71-1",
            "uniprot_ac": "Q9BZ71",
            "uniprot_id": "PITM3_HUMAN",
            "refseq_ac": "NP_112497",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-associated phosphatidylinositol transfer protein 3",
                    "type": "recommended"
                },
                {
                    "name": "NIR-1",
                    "type": "synonym"
                },
                {
                    "name": "PITPnm 3",
                    "type": "synonym"
                },
                {
                    "name": "PYK2 N-terminal domain-interacting receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol transfer protein, membrane-associated 3",
                    "type": "synonym"
                },
                {
                    "name": "Pyk2 N-terminal domain-interacting receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "atypical chemokine receptor 6",
                    "type": "synonym"
                },
                {
                    "name": "cone rod dystrophy 5",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated phosphatidylinositol transfer protein 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated phosphatidylinositol transfer protein 3",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol transfer protein, membrane-associated 3",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration B alpha 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PITPNM3",
                    "type": "recommended"
                },
                {
                    "name": "ACKR6",
                    "type": "synonym"
                },
                {
                    "name": "CORD5",
                    "type": "synonym"
                },
                {
                    "name": "NIR1",
                    "type": "synonym"
                },
                {
                    "name": "PITPNM3",
                    "type": "synonym"
                },
                {
                    "name": "RDGBA3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BZ71-1",
            "evidence": [
                {
                    "id": "600977",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600977"
                },
                {
                    "id": "0111010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RDK4-1",
            "uniprot_ac": "M0RDK4",
            "uniprot_id": "M0RDK4_RAT",
            "refseq_ac": "NP_001417042",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-associated phosphatidylinositol transfer protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Phosphatidylinositol transfer protein, membrane-associated 3",
                    "type": "synonym"
                },
                {
                    "name": "Pyk2 N-terminal domain-interacting receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated phosphatidylinositol transfer protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pitpnm3",
                    "type": "recommended"
                },
                {
                    "name": "Pitpnm3",
                    "type": "synonym"
                }
            ],
            "record_id": "M0RDK4-1",
            "evidence": [
                {
                    "id": "0111010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43125-1",
            "uniprot_ac": "P43125",
            "uniprot_id": "RDGB_DROME",
            "refseq_ac": "NP_001014740",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein retinal degeneration B",
                    "type": "recommended"
                },
                {
                    "name": "CG11111-PD",
                    "type": "synonym"
                },
                {
                    "name": "Probable calcium transporter rdgB",
                    "type": "synonym"
                },
                {
                    "name": "rdgB-PD",
                    "type": "synonym"
                },
                {
                    "name": "receptor degeneration B",
                    "type": "synonym"
                },
                {
                    "name": "receptor-degeneration-II",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration B, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rdgB",
                    "type": "recommended"
                },
                {
                    "name": "CG11111",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11111",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11111",
                    "type": "synonym"
                },
                {
                    "name": "DrdgBalpha",
                    "type": "synonym"
                },
                {
                    "name": "DrdgB",
                    "type": "synonym"
                },
                {
                    "name": "RDGBalpha",
                    "type": "synonym"
                },
                {
                    "name": "RDGB",
                    "type": "synonym"
                },
                {
                    "name": "RdgBalpha",
                    "type": "synonym"
                },
                {
                    "name": "RdgB",
                    "type": "synonym"
                },
                {
                    "name": "hypoF",
                    "type": "synonym"
                },
                {
                    "name": "ota1",
                    "type": "synonym"
                },
                {
                    "name": "rdbB(ota1)",
                    "type": "synonym"
                },
                {
                    "name": "rdgBalpha",
                    "type": "synonym"
                },
                {
                    "name": "rdgB",
                    "type": "synonym"
                },
                {
                    "name": "x36",
                    "type": "synonym"
                }
            ],
            "record_id": "P43125-1",
            "evidence": [
                {
                    "id": "0111010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111010"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111010"
}