{
    "disease_id": "DOID:0111149",
    "recommended_name": {
        "id": "DOID:0111149",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111149",
        "name": "autosomal recessive isolated ectopia lentis 2",
        "description": "An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21."
    },
    "synonyms": [
        {
            "id": "DOID:0111149",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111149",
            "name": "ECTOL2",
            "description": ""
        },
        {
            "id": "MONDO:0009152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009152",
            "name": "ectopia lentis 2, isolated, autosomal recessive",
            "description": "An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21."
        },
        {
            "id": "MONDO:0009152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009152",
            "name": "ECTOL2",
            "description": ""
        },
        {
            "id": "MONDO:0009152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009152",
            "name": "ectopia lentis 2, isolated, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009152",
            "name": "ectopia lentis, isolated, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009152",
            "name": "autosomal recessive isolated ectopia lentis",
            "description": ""
        },
        {
            "id": "MONDO:0009152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009152",
            "name": "ectopia lentis, isolated autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:225100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/225100",
            "name": "Ectopia lentis 2, isolated, autosomal recessive",
            "description": "Ectopia lentis 2, isolated, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111149"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111149",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111149",
            "categories": []
        },
        {
            "id": "MONDO:0009152",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009152",
            "categories": []
        },
        {
            "id": "MIM:225100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/225100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9NZG4-1",
            "uniprot_ac": "A0A8M9NZG4",
            "uniprot_id": "A0A8M9NZG4_DANRE",
            "refseq_ac": "XP_021322467",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombospondin type-1 domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin type-1 domain-containing protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "adamtsl4",
                    "type": "recommended"
                },
                {
                    "name": "adamtsl4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9NZG4-1",
            "evidence": [
                {
                    "id": "0111149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111149"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80T21-1",
            "uniprot_ac": "Q80T21",
            "uniprot_id": "ATL4_MOUSE",
            "refseq_ac": "NP_001288634",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADAMTS-like protein 4",
                    "type": "recommended"
                },
                {
                    "name": "ADAMTS-like protein 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTS-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTSL-4",
                    "type": "synonym"
                },
                {
                    "name": "Thrombospondin repeat-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin repeat containing 1",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin repeat protein 1",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin repeat-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adamtsl4",
                    "type": "recommended"
                },
                {
                    "name": "ADAMTSL-4",
                    "type": "synonym"
                },
                {
                    "name": "Adamtsl4",
                    "type": "synonym"
                },
                {
                    "name": "Tsrc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80T21-1",
            "evidence": [
                {
                    "id": "0111149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111149"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6UY14-1",
            "uniprot_ac": "Q6UY14",
            "uniprot_id": "ATL4_HUMAN",
            "refseq_ac": "NP_001275536",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADAMTS-like protein 4",
                    "type": "recommended"
                },
                {
                    "name": "ADAMTS-like protein 4 isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTS-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTSL-4",
                    "type": "synonym"
                },
                {
                    "name": "Thrombospondin repeat-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin repeat-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADAMTSL4",
                    "type": "recommended"
                },
                {
                    "name": "ADAMTSL-4",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTSL4",
                    "type": "synonym"
                },
                {
                    "name": "ECTOL2",
                    "type": "synonym"
                },
                {
                    "name": "PP1396",
                    "type": "synonym"
                },
                {
                    "name": "PRO34012",
                    "type": "synonym"
                },
                {
                    "name": "TSRC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6UY14-1",
            "evidence": [
                {
                    "id": "225100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/225100"
                },
                {
                    "id": "0111149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111149"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4FZU4-1",
            "uniprot_ac": "Q4FZU4",
            "uniprot_id": "ATL4_RAT",
            "refseq_ac": "NP_001029184",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADAMTS-like protein 4",
                    "type": "recommended"
                },
                {
                    "name": "ADAMTS-like protein 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTS-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTSL-4",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin repeat protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adamtsl4",
                    "type": "recommended"
                },
                {
                    "name": "Adamtsl4",
                    "type": "synonym"
                },
                {
                    "name": "Tsrc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4FZU4-1",
            "evidence": [
                {
                    "id": "0111149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111149"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKV3-1",
            "uniprot_ac": "Q9VKV3",
            "uniprot_id": "Q9VKV3_DROME",
            "refseq_ac": "NP_609406",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6232-PA",
                    "type": "synonym"
                },
                {
                    "name": "Lonely heart, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "loh-PA",
                    "type": "synonym"
                },
                {
                    "name": "lonely heart, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "lonely heart",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "loh",
                    "type": "recommended"
                },
                {
                    "name": "CG6232",
                    "type": "synonym"
                },
                {
                    "name": "CT19510",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6232",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6232",
                    "type": "synonym"
                },
                {
                    "name": "Loh",
                    "type": "synonym"
                },
                {
                    "name": "loh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKV3-1",
            "evidence": [
                {
                    "id": "0111149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111149"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111149"
}