{
    "disease_id": "DOID:0110111",
    "recommended_name": {
        "id": "DOID:0110111",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110111",
        "name": "atrial heart septal defect 6",
        "description": "An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110111",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110111",
            "name": "ASD6",
            "description": ""
        },
        {
            "id": "DOID:0110111",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110111",
            "name": "atrial septal defect 6",
            "description": ""
        },
        {
            "id": "MONDO:0013123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013123",
            "name": "atrial septal defect 6",
            "description": "Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene."
        },
        {
            "id": "MONDO:0013123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013123",
            "name": "ASD6",
            "description": ""
        },
        {
            "id": "MONDO:0013123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013123",
            "name": "TLL1 atrial heart septal defect",
            "description": ""
        },
        {
            "id": "MONDO:0013123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013123",
            "name": "atrial heart septal defect caused by mutation in TLL1",
            "description": ""
        },
        {
            "id": "MONDO:0013123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013123",
            "name": "atrial heart septal defect type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013123",
            "name": "atrial septal defect 6",
            "description": ""
        },
        {
            "id": "MONDO:0013123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013123",
            "name": "atrial septal defect type 6",
            "description": ""
        },
        {
            "id": "MIM:613087",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613087",
            "name": "Atrial septal defect 6",
            "description": "Atrial septal defect 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110111"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110111",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110111",
            "categories": []
        },
        {
            "id": "MONDO:0013123",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013123",
            "categories": []
        },
        {
            "id": "MIM:613087",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613087",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O57460-1",
            "uniprot_ac": "O57460",
            "uniprot_id": "TLL1_DANRE",
            "refseq_ac": "NP_571085",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dorsal-ventral patterning tolloid-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "Mini fin protein",
                    "type": "synonym"
                },
                {
                    "name": "dorsal-ventral patterning tolloid-like protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dorsal-ventral patterning tolloid-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mfn",
                    "type": "synonym"
                },
                {
                    "name": "mini fin protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tll1",
                    "type": "recommended"
                },
                {
                    "name": "mfn",
                    "type": "synonym"
                },
                {
                    "name": "tld",
                    "type": "synonym"
                },
                {
                    "name": "tll1",
                    "type": "synonym"
                },
                {
                    "name": "tolloid",
                    "type": "synonym"
                }
            ],
            "record_id": "O57460-1",
            "evidence": [
                {
                    "id": "0110111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62381-1",
            "uniprot_ac": "Q62381",
            "uniprot_id": "TLL1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tolloid-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "mTll",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tll1",
                    "type": "recommended"
                },
                {
                    "name": "Tll",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62381-1",
            "evidence": [
                {
                    "id": "0110111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43897-1",
            "uniprot_ac": "O43897",
            "uniprot_id": "TLL1_HUMAN",
            "refseq_ac": "NP_001191689",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tolloid-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "tolloid-like protein 1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tolloid-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TLL1",
                    "type": "recommended"
                },
                {
                    "name": "ASD6",
                    "type": "synonym"
                },
                {
                    "name": "TLL1",
                    "type": "synonym"
                },
                {
                    "name": "TLL",
                    "type": "synonym"
                }
            ],
            "record_id": "O43897-1",
            "evidence": [
                {
                    "id": "613087",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613087"
                },
                {
                    "id": "0110111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z8U5-1",
            "uniprot_ac": "D3Z8U5",
            "uniprot_id": "D3Z8U5_RAT",
            "refseq_ac": "NP_001099551",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metalloendopeptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "tolloid-like protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tolloid-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tll1",
                    "type": "recommended"
                },
                {
                    "name": "Tll1",
                    "type": "synonym"
                },
                {
                    "name": "Tll",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z8U5-1",
            "evidence": [
                {
                    "id": "0110111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25723-1",
            "uniprot_ac": "P25723",
            "uniprot_id": "TLD_DROME",
            "refseq_ac": "NP_524487",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dorsal-ventral patterning protein tolloid",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6868-PA",
                    "type": "synonym"
                },
                {
                    "name": "tld-PA",
                    "type": "synonym"
                },
                {
                    "name": "tolloid",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tld",
                    "type": "recommended"
                },
                {
                    "name": "CG6868",
                    "type": "synonym"
                },
                {
                    "name": "CT21278",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6868",
                    "type": "synonym"
                },
                {
                    "name": "TLD",
                    "type": "synonym"
                },
                {
                    "name": "Tld",
                    "type": "synonym"
                },
                {
                    "name": "Tolloid",
                    "type": "synonym"
                },
                {
                    "name": "dTld",
                    "type": "synonym"
                },
                {
                    "name": "tld",
                    "type": "synonym"
                }
            ],
            "record_id": "P25723-1",
            "evidence": [
                {
                    "id": "0110111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VC47-1",
            "uniprot_ac": "Q9VC47",
            "uniprot_id": "TOK_DROME",
            "refseq_ac": "NP_001287510",
            "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 tolkin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6863-PC",
                    "type": "synonym"
                },
                {
                    "name": "Tolloid-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Tolloid-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Tolloid-related",
                    "type": "synonym"
                },
                {
                    "name": "piranha",
                    "type": "synonym"
                },
                {
                    "name": "tld-related-1",
                    "type": "synonym"
                },
                {
                    "name": "tok-PC",
                    "type": "synonym"
                },
                {
                    "name": "tolkin, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "tolkin",
                    "type": "synonym"
                },
                {
                    "name": "tolloid-related 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tok",
                    "type": "recommended"
                },
                {
                    "name": "CG6863",
                    "type": "synonym"
                },
                {
                    "name": "CT21251",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6863",
                    "type": "synonym"
                },
                {
                    "name": "TLR",
                    "type": "synonym"
                },
                {
                    "name": "TOK",
                    "type": "synonym"
                },
                {
                    "name": "Tlr-1",
                    "type": "synonym"
                },
                {
                    "name": "Tlr",
                    "type": "synonym"
                },
                {
                    "name": "Tok",
                    "type": "synonym"
                },
                {
                    "name": "tldr-1",
                    "type": "synonym"
                },
                {
                    "name": "tldr1",
                    "type": "synonym"
                },
                {
                    "name": "tlr-1",
                    "type": "synonym"
                },
                {
                    "name": "tlr1",
                    "type": "synonym"
                },
                {
                    "name": "tlr",
                    "type": "synonym"
                },
                {
                    "name": "tok",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VC47-1",
            "evidence": [
                {
                    "id": "0110111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110111"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110111"
}