{
    "disease_id": "DOID:0110361",
    "recommended_name": {
        "id": "DOID:0110361",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110361",
        "name": "retinitis pigmentosa 75",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23."
    },
    "synonyms": [
        {
            "id": "DOID:0110361",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110361",
            "name": "RP75",
            "description": ""
        },
        {
            "id": "MONDO:0014871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014871",
            "name": "retinitis pigmentosa 75",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene."
        },
        {
            "id": "MONDO:0014871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014871",
            "name": "AGBL5 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0014871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014871",
            "name": "RP75",
            "description": ""
        },
        {
            "id": "MONDO:0014871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014871",
            "name": "retinitis pigmentosa 75",
            "description": ""
        },
        {
            "id": "MONDO:0014871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014871",
            "name": "retinitis pigmentosa caused by mutation in AGBL5",
            "description": ""
        },
        {
            "id": "MONDO:0014871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014871",
            "name": "retinitis pigmentosa type 75",
            "description": ""
        },
        {
            "id": "MIM:617023",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617023",
            "name": "Retinitis pigmentosa 75",
            "description": "Retinitis pigmentosa 75"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110361"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110361",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110361",
            "categories": []
        },
        {
            "id": "MONDO:0014871",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014871",
            "categories": []
        },
        {
            "id": "MIM:617023",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617023",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q68EI3-1",
            "uniprot_ac": "Q68EI3",
            "uniprot_id": "CBPC5_DANRE",
            "refseq_ac": "NP_001004113",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytosolic carboxypeptidase-like protein 5",
                    "type": "recommended"
                },
                {
                    "name": "3.4.17.-",
                    "type": "synonym"
                },
                {
                    "name": "3.4.17.24",
                    "type": "synonym"
                },
                {
                    "name": "ATP/GTP binding protein-like 5",
                    "type": "synonym"
                },
                {
                    "name": "ATP/GTP-binding protein-like 5",
                    "type": "synonym"
                },
                {
                    "name": "CCP5",
                    "type": "synonym"
                },
                {
                    "name": "Protein deglutamylase CCP5",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic carboxypeptidase-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "protein deglutamylase CCP5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "agbl5",
                    "type": "recommended"
                },
                {
                    "name": "agbl5",
                    "type": "synonym"
                },
                {
                    "name": "ccp5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91997",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68EI3-1",
            "evidence": [
                {
                    "id": "0110361",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110361"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q09M02-1",
            "uniprot_ac": "Q09M02",
            "uniprot_id": "CBPC5_MOUSE",
            "refseq_ac": "NP_001041657",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytosolic carboxypeptidase-like protein 5",
                    "type": "recommended"
                },
                {
                    "name": "3.4.17.-",
                    "type": "synonym"
                },
                {
                    "name": "3.4.17.24",
                    "type": "synonym"
                },
                {
                    "name": "ATP/GTP-binding protein-like 5",
                    "type": "synonym"
                },
                {
                    "name": "Protein deglutamylase CCP5",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase 5, cytosolic",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic carboxypeptidase-like protein 5 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic carboxypeptidase-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "protein deglutamylase CCP5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agbl5",
                    "type": "recommended"
                },
                {
                    "name": "9430057O19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Agbl5",
                    "type": "synonym"
                },
                {
                    "name": "CCP5",
                    "type": "synonym"
                },
                {
                    "name": "Ccp5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q09M02-1",
            "evidence": [
                {
                    "id": "0110361",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110361"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NDL9-1",
            "uniprot_ac": "Q8NDL9",
            "uniprot_id": "CBPC5_HUMAN",
            "refseq_ac": "NP_001030584",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytosolic carboxypeptidase-like protein 5",
                    "type": "recommended"
                },
                {
                    "name": "3.4.17.-",
                    "type": "synonym"
                },
                {
                    "name": "3.4.17.24",
                    "type": "synonym"
                },
                {
                    "name": "ATP/GTP binding protein like 5",
                    "type": "synonym"
                },
                {
                    "name": "ATP/GTP-binding protein-like 5",
                    "type": "synonym"
                },
                {
                    "name": "Protein deglutamylase CCP5",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic carboxypeptidase 5",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic carboxypeptidase-like protein 5 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic carboxypeptidase-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "protein deglutamylase CCP5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AGBL5",
                    "type": "recommended"
                },
                {
                    "name": "AGBL5",
                    "type": "synonym"
                },
                {
                    "name": "CCP5",
                    "type": "synonym"
                },
                {
                    "name": "RP75",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NDL9-1",
            "evidence": [
                {
                    "id": "617023",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617023"
                },
                {
                    "id": "0110361",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110361"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2GV17-1",
            "uniprot_ac": "B2GV17",
            "uniprot_id": "CBPC5_RAT",
            "refseq_ac": "NP_001119844",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytosolic carboxypeptidase-like protein 5",
                    "type": "recommended"
                },
                {
                    "name": "3.4.17.-",
                    "type": "synonym"
                },
                {
                    "name": "3.4.17.24",
                    "type": "synonym"
                },
                {
                    "name": "ATP/GTP binding protein-like 5",
                    "type": "synonym"
                },
                {
                    "name": "ATP/GTP-binding protein-like 5",
                    "type": "synonym"
                },
                {
                    "name": "Protein deglutamylase CCP5",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic carboxypeptidase-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "protein deglutamylase CCP5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agbl5",
                    "type": "recommended"
                },
                {
                    "name": "Agbl5",
                    "type": "synonym"
                },
                {
                    "name": "Ccp5",
                    "type": "synonym"
                }
            ],
            "record_id": "B2GV17-1",
            "evidence": [
                {
                    "id": "0110361",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110361"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110361"
}