{
    "disease_id": "DOID:0111541",
    "recommended_name": {
        "id": "DOID:0111541",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111541",
        "name": "pigmented paravenous chorioretinal atrophy",
        "description": "An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111541",
            "name": "PPRCA",
            "description": ""
        },
        {
            "id": "MONDO:0008246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008246",
            "name": "pigmented paravenous retinochoroidal atrophy",
            "description": "Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision."
        },
        {
            "id": "MONDO:0008246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008246",
            "name": "PPRCA",
            "description": ""
        },
        {
            "id": "MONDO:0008246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008246",
            "name": "PPCRA",
            "description": ""
        },
        {
            "id": "MONDO:0008246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008246",
            "name": "pigmented paravenous chorioretinal atrophy",
            "description": ""
        },
        {
            "id": "MIM:172870",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/172870",
            "name": "Pigmented paravenous chorioretinal atrophy",
            "description": "Pigmented paravenous chorioretinal atrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111541"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111541",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111541",
            "categories": []
        },
        {
            "id": "MONDO:0008246",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008246",
            "categories": []
        },
        {
            "id": "MIM:172870",
            "database": "MIM",
            "url": "https://www.omim.org/entry/172870",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TEP1-1",
            "uniprot_ac": "A0AB32TEP1",
            "uniprot_id": "A0AB32TEP1_DANRE",
            "refseq_ac": "XP_068072421",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein crumbs homolog 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "protein crumbs homolog 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "crb1",
                    "type": "recommended"
                },
                {
                    "name": "crb1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-114d20.6",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-114d20.7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TEP1-1",
            "evidence": [
                {
                    "id": "0111541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VHS2-1",
            "uniprot_ac": "Q8VHS2",
            "uniprot_id": "CRUM1_MOUSE",
            "refseq_ac": "NP_573502",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein crumbs homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "protein crumbs homolog 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein crumbs homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crb1",
                    "type": "recommended"
                },
                {
                    "name": "7530426H14Rik",
                    "type": "synonym"
                },
                {
                    "name": "A930008G09Rik",
                    "type": "synonym"
                },
                {
                    "name": "CRB1-A2",
                    "type": "synonym"
                },
                {
                    "name": "CRB1-A",
                    "type": "synonym"
                },
                {
                    "name": "CRB1-B",
                    "type": "synonym"
                },
                {
                    "name": "CRB1-C",
                    "type": "synonym"
                },
                {
                    "name": "Crb1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VHS2-1",
            "evidence": [
                {
                    "id": "0111541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P82279-1",
            "uniprot_ac": "P82279",
            "uniprot_id": "CRUM1_HUMAN",
            "refseq_ac": "NP_001180569",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein crumbs homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "crumbs 1, cell polarity complex component",
                    "type": "synonym"
                },
                {
                    "name": "crumbs family member 1, photoreceptor morphogenesis associated",
                    "type": "synonym"
                },
                {
                    "name": "protein crumbs homolog 1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein crumbs homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRB1",
                    "type": "recommended"
                },
                {
                    "name": "CRB1-A",
                    "type": "synonym"
                },
                {
                    "name": "CRB1-B",
                    "type": "synonym"
                },
                {
                    "name": "CRB1-C",
                    "type": "synonym"
                },
                {
                    "name": "CRB1",
                    "type": "synonym"
                },
                {
                    "name": "LCA8",
                    "type": "synonym"
                },
                {
                    "name": "RP12",
                    "type": "synonym"
                }
            ],
            "record_id": "P82279-1",
            "evidence": [
                {
                    "id": "172870",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/172870"
                },
                {
                    "id": "0111541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZL8-1",
            "uniprot_ac": "D3ZZL8",
            "uniprot_id": "D3ZZL8_RAT",
            "refseq_ac": "NP_001100652",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein crumbs homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "crumbs 1, cell polarity complex component",
                    "type": "synonym"
                },
                {
                    "name": "crumbs family member 1, photoreceptor morphogenesis associated",
                    "type": "synonym"
                },
                {
                    "name": "crumbs homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein crumbs homolog 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crb1",
                    "type": "recommended"
                },
                {
                    "name": "Crb1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZZL8-1",
            "evidence": [
                {
                    "id": "0111541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08483-1",
            "uniprot_ac": "P08483",
            "uniprot_id": "ACM3_RAT",
            "refseq_ac": "NP_036659",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscarinic acetylcholine receptor M3",
                    "type": "recommended"
                },
                {
                    "name": "cholinergic receptor, muscarinic 3, cardiac",
                    "type": "synonym"
                },
                {
                    "name": "muscarinic acetylcholine receptor M3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chrm3",
                    "type": "recommended"
                },
                {
                    "name": "Chrm-3",
                    "type": "synonym"
                },
                {
                    "name": "Chrm3",
                    "type": "synonym"
                }
            ],
            "record_id": "P08483-1",
            "evidence": [
                {
                    "id": "0111541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10040-1",
            "uniprot_ac": "P10040",
            "uniprot_id": "CRB_DROME",
            "refseq_ac": "NP_001036751",
            "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 crumbs",
                    "type": "recommended"
                },
                {
                    "name": "95F",
                    "type": "synonym"
                },
                {
                    "name": "CG6383-PB",
                    "type": "synonym"
                },
                {
                    "name": "crb-PB",
                    "type": "synonym"
                },
                {
                    "name": "crumbs, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "crumbs",
                    "type": "synonym"
                },
                {
                    "name": "fat rhabdomeres",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 07207",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "crb",
                    "type": "recommended"
                },
                {
                    "name": "04",
                    "type": "synonym"
                },
                {
                    "name": "0509/20",
                    "type": "synonym"
                },
                {
                    "name": "1384/04",
                    "type": "synonym"
                },
                {
                    "name": "20",
                    "type": "synonym"
                },
                {
                    "name": "CG6383",
                    "type": "synonym"
                },
                {
                    "name": "CRB",
                    "type": "synonym"
                },
                {
                    "name": "CT19912",
                    "type": "synonym"
                },
                {
                    "name": "Crbs",
                    "type": "synonym"
                },
                {
                    "name": "Crb",
                    "type": "synonym"
                },
                {
                    "name": "Crumbs",
                    "type": "synonym"
                },
                {
                    "name": "DmCrb",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6383",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6383",
                    "type": "synonym"
                },
                {
                    "name": "crb",
                    "type": "synonym"
                },
                {
                    "name": "crumb",
                    "type": "synonym"
                },
                {
                    "name": "far",
                    "type": "synonym"
                },
                {
                    "name": "l(3)07207",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S050920",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S058104",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j1B5",
                    "type": "synonym"
                }
            ],
            "record_id": "P10040-1",
            "evidence": [
                {
                    "id": "0111541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111541"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111541"
}