{
    "disease_id": "DOID:0060646",
    "recommended_name": {
        "id": "DOID:0060646",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060646",
        "name": "congenital chylothorax",
        "description": "A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life."
    },
    "synonyms": [
        {
            "id": "MONDO:0011331",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011331",
            "name": "congenital chylothorax",
            "description": "Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations."
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060646"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060646",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060646",
            "categories": []
        },
        {
            "id": "MONDO:0011331",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011331",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58J6Y3-1",
            "uniprot_ac": "A0AC58J6Y3",
            "uniprot_id": "A0AC58J6Y3_DANRE",
            "refseq_ac": "XP_073802245",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ETS domain-containing protein Elk-3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "elk3",
                    "type": "recommended"
                },
                {
                    "name": "elk3",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-172b12.2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-201e17.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:198153",
                    "type": "synonym"
                },
                {
                    "name": "zgc:198183",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58J6Y3-1",
            "evidence": [
                {
                    "id": "0060646",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060646"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1Q8T4-1",
            "uniprot_ac": "F1Q8T4",
            "uniprot_id": "F1Q8T4_DANRE",
            "refseq_ac": "NP_001311427",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin alpha-9",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-9 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "itga9",
                    "type": "recommended"
                },
                {
                    "name": "itga9",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63474",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q8T4-1",
            "evidence": [
                {
                    "id": "0060646",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060646"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B8JK39-1",
            "uniprot_ac": "B8JK39",
            "uniprot_id": "ITA9_MOUSE",
            "refseq_ac": "NP_598482",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin alpha-9",
                    "type": "recommended"
                },
                {
                    "name": "integrin alpha-9 isoform a precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itga9",
                    "type": "recommended"
                },
                {
                    "name": "(alpha)9",
                    "type": "synonym"
                },
                {
                    "name": "2610002H11Rik",
                    "type": "synonym"
                },
                {
                    "name": "6720458D17Rik",
                    "type": "synonym"
                },
                {
                    "name": "D130073C02",
                    "type": "synonym"
                },
                {
                    "name": "D9Ertd428e",
                    "type": "synonym"
                },
                {
                    "name": "Itga9",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JK39-1",
            "evidence": [
                {
                    "id": "0060646",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060646"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41971-1",
            "uniprot_ac": "P41971",
            "uniprot_id": "ELK3_MOUSE",
            "refseq_ac": "NP_001309194",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ETS domain-containing protein Elk-3",
                    "type": "recommended"
                },
                {
                    "name": "ELK3, member of ETS oncogene family",
                    "type": "synonym"
                },
                {
                    "name": "ETS domain-containing protein Elk-3 isoform Elk3c",
                    "type": "synonym"
                },
                {
                    "name": "ETS domain-containing protein Elk-3",
                    "type": "synonym"
                },
                {
                    "name": "ETS-domain protein ELK-3",
                    "type": "synonym"
                },
                {
                    "name": "ETS-related protein ERP",
                    "type": "synonym"
                },
                {
                    "name": "ETS-related protein NET",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elk3",
                    "type": "recommended"
                },
                {
                    "name": "D430049E23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Elk3",
                    "type": "synonym"
                },
                {
                    "name": "Erp",
                    "type": "synonym"
                },
                {
                    "name": "Etrp",
                    "type": "synonym"
                },
                {
                    "name": "Net",
                    "type": "synonym"
                },
                {
                    "name": "Sap-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P41971-1",
            "evidence": [
                {
                    "id": "0060646",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060646"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A9V6-1",
            "uniprot_ac": "D4A9V6",
            "uniprot_id": "D4A9V6_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": "ETS transcription factor ELK3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elk3",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A9V6-1",
            "evidence": [
                {
                    "id": "0060646",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060646"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZN51-1",
            "uniprot_ac": "D3ZN51",
            "uniprot_id": "D3ZN51_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin alpha-9",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Itga9",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZN51-1",
            "evidence": [
                {
                    "id": "0060646",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060646"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13286-1",
            "uniprot_ac": "P13286",
            "uniprot_id": "PHKG1_RAT",
            "refseq_ac": "NP_113761",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.19",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.26",
                    "type": "synonym"
                },
                {
                    "name": "Phosphorylase kinase subunit gamma-1",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase PHKG1",
                    "type": "synonym"
                },
                {
                    "name": "gamma phosphorylase kinase",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase subunit gamma-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase, gamma 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase PHKG1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phkg1",
                    "type": "recommended"
                },
                {
                    "name": "PHKIN01",
                    "type": "synonym"
                },
                {
                    "name": "Phkg1",
                    "type": "synonym"
                },
                {
                    "name": "Phkg",
                    "type": "synonym"
                }
            ],
            "record_id": "P13286-1",
            "evidence": [
                {
                    "id": "0060646",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060646"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12080-1",
            "uniprot_ac": "P12080",
            "uniprot_id": "ITA2_DROME",
            "refseq_ac": "NP_001162777",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin alpha-PS2",
                    "type": "recommended"
                },
                {
                    "name": "CG9623-PD",
                    "type": "synonym"
                },
                {
                    "name": "PS II alpha",
                    "type": "synonym"
                },
                {
                    "name": "Position-specific antigen subunit alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "Protein inflated",
                    "type": "synonym"
                },
                {
                    "name": "alpha integrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-PS2-integrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-integrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha2 integrin",
                    "type": "synonym"
                },
                {
                    "name": "alphaPS2 integrin",
                    "type": "synonym"
                },
                {
                    "name": "alphaPS2-integrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha[[PS2]] integrin",
                    "type": "synonym"
                },
                {
                    "name": "if-PD",
                    "type": "synonym"
                },
                {
                    "name": "inflated, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "integrin PSI alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha PS2",
                    "type": "synonym"
                },
                {
                    "name": "integrin alphaPS2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "position-specific antigen 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "if",
                    "type": "recommended"
                },
                {
                    "name": "CG9623",
                    "type": "synonym"
                },
                {
                    "name": "CT27194",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9623",
                    "type": "synonym"
                },
                {
                    "name": "IF",
                    "type": "synonym"
                },
                {
                    "name": "If",
                    "type": "synonym"
                },
                {
                    "name": "Integrin alpha PS2",
                    "type": "synonym"
                },
                {
                    "name": "ItgaPS2",
                    "type": "synonym"
                },
                {
                    "name": "PS 2",
                    "type": "synonym"
                },
                {
                    "name": "PS2(c)",
                    "type": "synonym"
                },
                {
                    "name": "PS2(m8)alpha",
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                },
                {
                    "name": "PS2(m8)",
                    "type": "synonym"
                },
                {
                    "name": "PS2alpha",
                    "type": "synonym"
                },
                {
                    "name": "PS2",
                    "type": "synonym"
                },
                {
                    "name": "PSalpha2",
                    "type": "synonym"
                },
                {
                    "name": "aPS2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-PS2",
                    "type": "synonym"
                },
                {
                    "name": "alpha2Int",
                    "type": "synonym"
                },
                {
                    "name": "alphaPS2 integrin",
                    "type": "synonym"
                },
                {
                    "name": "alphaPS2C",
                    "type": "synonym"
                },
                {
                    "name": "alphaPS2m8",
                    "type": "synonym"
                },
                {
                    "name": "alphaPS2",
                    "type": "synonym"
                },
                {
                    "name": "alpha[[PS2(ms8)]]",
                    "type": "synonym"
                },
                {
                    "name": "alpha[[PS2]]",
                    "type": "synonym"
                },
                {
                    "name": "if",
                    "type": "synonym"
                },
                {
                    "name": "inf",
                    "type": "synonym"
                },
                {
                    "name": "in",
                    "type": "synonym"
                }
            ],
            "record_id": "P12080-1",
            "evidence": [
                {
                    "id": "0060646",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060646"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41970-1",
            "uniprot_ac": "P41970",
            "uniprot_id": "ELK3_HUMAN",
            "refseq_ac": "NP_005221",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ETS domain-containing protein Elk-3",
                    "type": "recommended"
                },
                {
                    "name": "ELK3, ETS transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "ELK3, ETS-domain protein (SRF accessory protein 2)",
                    "type": "synonym"
                },
                {
                    "name": "ETS domain-containing protein Elk-3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ETS domain-containing protein Elk-3",
                    "type": "synonym"
                },
                {
                    "name": "ETS-related protein ERP",
                    "type": "synonym"
                },
                {
                    "name": "ETS-related protein NET",
                    "type": "synonym"
                },
                {
                    "name": "SAP-2",
                    "type": "synonym"
                },
                {
                    "name": "SRF accessory protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Serum response factor accessory protein 2",
                    "type": "synonym"
                },
                {
                    "name": "serum response factor accessory protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ELK3",
                    "type": "recommended"
                },
                {
                    "name": "ELK3",
                    "type": "synonym"
                },
                {
                    "name": "ERP",
                    "type": "synonym"
                },
                {
                    "name": "NET",
                    "type": "synonym"
                },
                {
                    "name": "SAP-2",
                    "type": "synonym"
                },
                {
                    "name": "SAP2",
                    "type": "synonym"
                }
            ],
            "record_id": "P41970-1",
            "evidence": [
                {
                    "id": "0060646",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060646"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13797-1",
            "uniprot_ac": "Q13797",
            "uniprot_id": "ITA9_HUMAN",
            "refseq_ac": "NP_002198",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin alpha-9",
                    "type": "recommended"
                },
                {
                    "name": "Integrin alpha-RLC",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-9 precursor",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-9",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-RLC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ITGA9",
                    "type": "recommended"
                },
                {
                    "name": "ALPHA-RLC",
                    "type": "synonym"
                },
                {
                    "name": "ITGA4L",
                    "type": "synonym"
                },
                {
                    "name": "ITGA9",
                    "type": "synonym"
                },
                {
                    "name": "RLC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13797-1",
            "evidence": [
                {
                    "id": "0060646",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060646"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060646"
}