{
    "disease_id": "DOID:0110243",
    "recommended_name": {
        "id": "DOID:0110243",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110243",
        "name": "cataract 46 juvenile-onset",
        "description": "A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110243",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110243",
            "name": "CTRCT46",
            "description": ""
        },
        {
            "id": "DOID:0110243",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110243",
            "name": "juvenilae cataract Hutterite type",
            "description": ""
        },
        {
            "id": "MONDO:0008925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008925",
            "name": "cataract 46 juvenile-onset",
            "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene."
        },
        {
            "id": "MONDO:0008925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008925",
            "name": "CTRCT46",
            "description": ""
        },
        {
            "id": "MONDO:0008925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008925",
            "name": "LEMD2 early-onset non-syndromic cataract",
            "description": ""
        },
        {
            "id": "MONDO:0008925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008925",
            "name": "early-onset non-syndromic cataract caused by mutation in LEMD2",
            "description": ""
        },
        {
            "id": "MONDO:0008925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008925",
            "name": "cataract Hutterite type",
            "description": ""
        },
        {
            "id": "MIM:212500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/212500",
            "name": "Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy",
            "description": "Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110243"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110243",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110243",
            "categories": []
        },
        {
            "id": "MONDO:0008925",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008925",
            "categories": []
        },
        {
            "id": "MIM:212500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/212500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DVA0-1",
            "uniprot_ac": "Q6DVA0",
            "uniprot_id": "LEMD2_MOUSE",
            "refseq_ac": "NP_666187",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "LEM domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "LEM domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "NET25",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear envelope transmembrane protein 25",
                    "type": "synonym"
                },
                {
                    "name": "nuclear envelope constituent",
                    "type": "synonym"
                },
                {
                    "name": "nuclear envelope transmembrane protein 25",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lemd2",
                    "type": "recommended"
                },
                {
                    "name": "Lem2",
                    "type": "synonym"
                },
                {
                    "name": "Lemd2",
                    "type": "synonym"
                },
                {
                    "name": "NET25",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DVA0-1",
            "evidence": [
                {
                    "id": "0110243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WU40-1",
            "uniprot_ac": "Q9WU40",
            "uniprot_id": "MAN1_MOUSE",
            "refseq_ac": "NP_001074662",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inner nuclear membrane protein Man1",
                    "type": "recommended"
                },
                {
                    "name": "LEM domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "inner nuclear membrane protein Man1",
                    "type": "synonym"
                },
                {
                    "name": "integral inner nuclear membrane protein MAN1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lemd3",
                    "type": "recommended"
                },
                {
                    "name": "Lemd3",
                    "type": "synonym"
                },
                {
                    "name": "Man1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WU40-1",
            "evidence": [
                {
                    "id": "0110243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NC56-1",
            "uniprot_ac": "Q8NC56",
            "uniprot_id": "LEMD2_HUMAN",
            "refseq_ac": "NP_001137416",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "LEM domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "LEM domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "LEM domain-containing protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "LEM domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "hLEM2",
                    "type": "synonym"
                },
                {
                    "name": "lamina-associated polypeptide-emerin-MAN1 domain containing 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LEMD2",
                    "type": "recommended"
                },
                {
                    "name": "CTRCT42",
                    "type": "synonym"
                },
                {
                    "name": "LEM2",
                    "type": "synonym"
                },
                {
                    "name": "LEMD2",
                    "type": "synonym"
                },
                {
                    "name": "MARUPS",
                    "type": "synonym"
                },
                {
                    "name": "NET25",
                    "type": "synonym"
                },
                {
                    "name": "dJ482C21.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NC56-1",
            "evidence": [
                {
                    "id": "212500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/212500"
                },
                {
                    "id": "0110243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03281-1",
            "uniprot_ac": "Q03281",
            "uniprot_id": "HEH2_YEAST",
            "refseq_ac": "NP_010746",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inner nuclear membrane protein HEH2",
                    "type": "recommended"
                },
                {
                    "name": "Heh2p",
                    "type": "synonym"
                },
                {
                    "name": "Helix-extension-helix domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HEH2",
                    "type": "recommended"
                },
                {
                    "name": "D8035.2",
                    "type": "synonym"
                },
                {
                    "name": "HEH2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03281-1",
            "evidence": [
                {
                    "id": "0110243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03707-1",
            "uniprot_ac": "Q03707",
            "uniprot_id": "SRC1_YEAST",
            "refseq_ac": "NP_013679",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inner nuclear membrane protein SRC1",
                    "type": "recommended"
                },
                {
                    "name": "Helix-extension-helix domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Src1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SRC1",
                    "type": "recommended"
                },
                {
                    "name": "HEH1",
                    "type": "synonym"
                },
                {
                    "name": "SRC1",
                    "type": "synonym"
                },
                {
                    "name": "YML033W",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03707-1",
            "evidence": [
                {
                    "id": "0110243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LKT7-1",
            "uniprot_ac": "A0ABK0LKT7",
            "uniprot_id": "A0ABK0LKT7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "LEM domain-containing protein 2",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Lemd2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LKT7-1",
            "evidence": [
                {
                    "id": "0110243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GK62-1",
            "uniprot_ac": "A0A8I6GK62",
            "uniprot_id": "A0A8I6GK62_RAT",
            "refseq_ac": "NP_001177929",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inner nuclear membrane protein Man1",
                    "type": "recommended"
                },
                {
                    "name": "LEM domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "inner nuclear membrane protein Man1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lemd3",
                    "type": "recommended"
                },
                {
                    "name": "Lemd3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561001",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GK62-1",
            "evidence": [
                {
                    "id": "0110243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7JRE4-1",
            "uniprot_ac": "Q7JRE4",
            "uniprot_id": "MAN1_DROME",
            "refseq_ac": "NP_001286812",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inner nuclear membrane protein Man1",
                    "type": "recommended"
                },
                {
                    "name": "CG3167-PC",
                    "type": "synonym"
                },
                {
                    "name": "LEM domain-containing protein Man1",
                    "type": "synonym"
                },
                {
                    "name": "MAN1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "MAN1-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAN1",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD24895",
                    "type": "synonym"
                },
                {
                    "name": "CG3167",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3167",
                    "type": "synonym"
                },
                {
                    "name": "MAN1",
                    "type": "synonym"
                },
                {
                    "name": "dMAN1",
                    "type": "synonym"
                },
                {
                    "name": "dMan1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7JRE4-1",
            "evidence": [
                {
                    "id": "0110243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2U8-1",
            "uniprot_ac": "Q9Y2U8",
            "uniprot_id": "MAN1_HUMAN",
            "refseq_ac": "NP_001161086",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inner nuclear membrane protein Man1",
                    "type": "recommended"
                },
                {
                    "name": "LEM domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "LEMD3/MKX fusion",
                    "type": "synonym"
                },
                {
                    "name": "MAN antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "inner nuclear membrane protein Man1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "inner nuclear membrane protein Man1",
                    "type": "synonym"
                },
                {
                    "name": "integral inner nuclear membrane protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LEMD3",
                    "type": "recommended"
                },
                {
                    "name": "LEMD3",
                    "type": "synonym"
                },
                {
                    "name": "MAN1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2U8-1",
            "evidence": [
                {
                    "id": "0110243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110243"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110243"
}