{
    "disease_id": "DOID:0070517",
    "recommended_name": {
        "id": "DOID:0070517",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070517",
        "name": "retinal macular dystrophy 2",
        "description": "A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32."
    },
    "synonyms": [
        {
            "id": "DOID:0070517",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070517",
            "name": "MCDR2",
            "description": ""
        },
        {
            "id": "MONDO:0011957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011957",
            "name": "retinal macular dystrophy type 2",
            "description": "Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages."
        },
        {
            "id": "MONDO:0011957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011957",
            "name": "MCDR2",
            "description": ""
        },
        {
            "id": "MONDO:0011957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011957",
            "name": "macular dystrophy, retinal, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011957",
            "name": "macular dystrophy, retinal, 2",
            "description": ""
        },
        {
            "id": "MIM:608051",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608051",
            "name": "Macular dystrophy, retinal, 2",
            "description": "Macular dystrophy, retinal, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070517"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070517",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070517",
            "categories": []
        },
        {
            "id": "MONDO:0011957",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011957",
            "categories": []
        },
        {
            "id": "MIM:608051",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608051",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58H1V2-1",
            "uniprot_ac": "A0AC58H1V2",
            "uniprot_id": "A0AC58H1V2_DANRE",
            "refseq_ac": "XP_073775965",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prominin 1 b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "prominin 1 b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prom1b",
                    "type": "recommended"
                },
                {
                    "name": "prom1b",
                    "type": "synonym"
                },
                {
                    "name": "proml2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58H1V2-1",
            "evidence": [
                {
                    "id": "0070517",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070517"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q9W735-1",
            "uniprot_ac": "Q9W735",
            "uniprot_id": "PRM1A_DANRE",
            "refseq_ac": "NP_001108615",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prominin-1-A",
                    "type": "recommended"
                },
                {
                    "name": "Prominin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "prominin-1-A precursor",
                    "type": "synonym"
                },
                {
                    "name": "prominin-1-A",
                    "type": "synonym"
                },
                {
                    "name": "prominin-1a.s11",
                    "type": "synonym"
                },
                {
                    "name": "prominin-1a.s18",
                    "type": "synonym"
                },
                {
                    "name": "prominin-1a.s19",
                    "type": "synonym"
                },
                {
                    "name": "prominin-1a.s20",
                    "type": "synonym"
                },
                {
                    "name": "prominin-like 1",
                    "type": "synonym"
                },
                {
                    "name": "prominin-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prom1a",
                    "type": "recommended"
                },
                {
                    "name": "fb75c01",
                    "type": "synonym"
                },
                {
                    "name": "prom1a",
                    "type": "synonym"
                },
                {
                    "name": "prom1",
                    "type": "synonym"
                },
                {
                    "name": "proml1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb75c01",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W735-1",
            "evidence": [
                {
                    "id": "0070517",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070517"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54990-1",
            "uniprot_ac": "O54990",
            "uniprot_id": "PROM1_MOUSE",
            "refseq_ac": "NP_001157050",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prominin-1",
                    "type": "recommended"
                },
                {
                    "name": "Antigen AC133 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Prominin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "antigen AC133 homolog",
                    "type": "synonym"
                },
                {
                    "name": "prominin-1 isoform s3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "prominin-like 1",
                    "type": "synonym"
                },
                {
                    "name": "prominin-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prom1",
                    "type": "recommended"
                },
                {
                    "name": "4932416E19Rik",
                    "type": "synonym"
                },
                {
                    "name": "AC133",
                    "type": "synonym"
                },
                {
                    "name": "CD133",
                    "type": "synonym"
                },
                {
                    "name": "Prom-1",
                    "type": "synonym"
                },
                {
                    "name": "Prom1",
                    "type": "synonym"
                },
                {
                    "name": "Proml1",
                    "type": "synonym"
                },
                {
                    "name": "Prom",
                    "type": "synonym"
                }
            ],
            "record_id": "O54990-1",
            "evidence": [
                {
                    "id": "0070517",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070517"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43490-1",
            "uniprot_ac": "O43490",
            "uniprot_id": "PROM1_HUMAN",
            "refseq_ac": "NP_001139319",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prominin-1",
                    "type": "recommended"
                },
                {
                    "name": "AC133 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Antigen AC133",
                    "type": "synonym"
                },
                {
                    "name": "Prominin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Retinitis pigmentosa 41, Cone-rod dystrophy 12",
                    "type": "synonym"
                },
                {
                    "name": "antigen AC133",
                    "type": "synonym"
                },
                {
                    "name": "hProminin",
                    "type": "synonym"
                },
                {
                    "name": "hematopoietic stem cell antigen",
                    "type": "synonym"
                },
                {
                    "name": "prominin-1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "prominin-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PROM1",
                    "type": "recommended"
                },
                {
                    "name": "AC133",
                    "type": "synonym"
                },
                {
                    "name": "CD133",
                    "type": "synonym"
                },
                {
                    "name": "CORD12",
                    "type": "synonym"
                },
                {
                    "name": "MCDR2",
                    "type": "synonym"
                },
                {
                    "name": "MSTP061",
                    "type": "synonym"
                },
                {
                    "name": "PROM1",
                    "type": "synonym"
                },
                {
                    "name": "PROML1",
                    "type": "synonym"
                },
                {
                    "name": "RP41",
                    "type": "synonym"
                },
                {
                    "name": "STGD4",
                    "type": "synonym"
                }
            ],
            "record_id": "O43490-1",
            "evidence": [
                {
                    "id": "608051",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608051"
                },
                {
                    "id": "0070517",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070517"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JWD0-1",
            "uniprot_ac": "A0A0G2JWD0",
            "uniprot_id": "A0A0G2JWD0_RAT",
            "refseq_ac": "XP_008768433",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prominin 1",
                    "type": "synonym"
                },
                {
                    "name": "prominin-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prom1",
                    "type": "recommended"
                },
                {
                    "name": "CD133",
                    "type": "synonym"
                },
                {
                    "name": "Prom1",
                    "type": "synonym"
                },
                {
                    "name": "Prom",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JWD0-1",
            "evidence": [
                {
                    "id": "0070517",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070517"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P82295-1",
            "uniprot_ac": "P82295",
            "uniprot_id": "PROML_DROME",
            "refseq_ac": "NP_001261351",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prominin-like protein",
                    "type": "recommended"
                },
                {
                    "name": "CG7740-PE",
                    "type": "synonym"
                },
                {
                    "name": "Prominin-like",
                    "type": "synonym"
                },
                {
                    "name": "promL-PE",
                    "type": "synonym"
                },
                {
                    "name": "prominin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "prominin-like, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "promL",
                    "type": "recommended"
                },
                {
                    "name": "CG7740",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7740",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7740",
                    "type": "synonym"
                },
                {
                    "name": "PromL",
                    "type": "synonym"
                },
                {
                    "name": "bs29e02.y1",
                    "type": "synonym"
                },
                {
                    "name": "promL",
                    "type": "synonym"
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                {
                    "name": "prominin-like",
                    "type": "synonym"
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            ],
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                {
                    "id": "0070517",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070517"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A1L4AAC2-1",
            "uniprot_ac": "A0A1L4AAC2",
            "uniprot_id": "A0A1L4AAC2_DROME",
            "refseq_ac": "NP_001334707",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prominin-like protein",
                    "type": "recommended"
                },
                {
                    "name": "CG45067-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG45067",
                    "type": "recommended"
                },
                {
                    "name": "CG14955",
                    "type": "synonym"
                },
                {
                    "name": "CG45067",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG45067",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG45067",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A1L4AAC2-1",
            "evidence": [
                {
                    "id": "0070517",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070517"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070517"
}