{
    "disease_id": "DOID:0080695",
    "recommended_name": {
        "id": "DOID:0080695",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080695",
        "name": "Burn-McKeown syndrome",
        "description": "A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, hearing loss, heart abnormalities, and short stature."
    },
    "synonyms": [
        {
            "id": "DOID:0080695",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080695",
            "name": "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012064",
            "name": "choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome",
            "description": "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome."
        },
        {
            "id": "MONDO:0012064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012064",
            "name": "Burn-McKeown syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012064",
            "name": "oculootofacial dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0012064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012064",
            "name": "BMKS",
            "description": ""
        },
        {
            "id": "MONDO:0012064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012064",
            "name": "bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance",
            "description": ""
        },
        {
            "id": "MONDO:0012064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012064",
            "name": "choanal atresia deafness cardiac defects dysmorphism",
            "description": ""
        },
        {
            "id": "MIM:608572",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608572",
            "name": "Burn-McKeown syndrome",
            "description": "Burn-McKeown syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080695"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080695",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080695",
            "categories": []
        },
        {
            "id": "MONDO:0012064",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012064",
            "categories": []
        },
        {
            "id": "MIM:608572",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608572",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P83877-1",
            "uniprot_ac": "P83877",
            "uniprot_id": "TXN4A_MOUSE",
            "refseq_ac": "NP_079575",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thioredoxin-like protein 4A",
                    "type": "recommended"
                },
                {
                    "name": "DIM1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Spliceosomal U5 snRNP-specific 15 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Thioredoxin-like U5 snRNP protein U5-15kD",
                    "type": "synonym"
                },
                {
                    "name": "spliceosomal U5 snRNP-specific 15 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin-like 4",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin-like U5 snRNP protein U5-15kD",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin-like protein 4A isoform a",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin-like protein 4A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Txnl4a",
                    "type": "recommended"
                },
                {
                    "name": "D18Wsu98e",
                    "type": "synonym"
                },
                {
                    "name": "Dim1",
                    "type": "synonym"
                },
                {
                    "name": "Txnl4a",
                    "type": "synonym"
                },
                {
                    "name": "Txnl4",
                    "type": "synonym"
                },
                {
                    "name": "U5-15kDa",
                    "type": "synonym"
                },
                {
                    "name": "U5-15kD",
                    "type": "synonym"
                }
            ],
            "record_id": "P83877-1",
            "evidence": [
                {
                    "id": "0080695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080695"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P83876-1",
            "uniprot_ac": "P83876",
            "uniprot_id": "TXN4A_HUMAN",
            "refseq_ac": "NP_001290400",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thioredoxin-like protein 4A",
                    "type": "recommended"
                },
                {
                    "name": "DIM1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Spliceosomal U5 snRNP-specific 15 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Thioredoxin-like U5 snRNP protein U5-15kD",
                    "type": "synonym"
                },
                {
                    "name": "spliceosomal U5 snRNP-specific 15 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin-like 4",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin-like U5 snRNP protein U5-15kD",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin-like protein 4A isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TXNL4A",
                    "type": "recommended"
                },
                {
                    "name": "BMKS",
                    "type": "synonym"
                },
                {
                    "name": "DIB1",
                    "type": "synonym"
                },
                {
                    "name": "DIM1",
                    "type": "synonym"
                },
                {
                    "name": "SNRNP15",
                    "type": "synonym"
                },
                {
                    "name": "TXNL4A",
                    "type": "synonym"
                },
                {
                    "name": "TXNL4",
                    "type": "synonym"
                },
                {
                    "name": "U5-15kD",
                    "type": "synonym"
                }
            ],
            "record_id": "P83876-1",
            "evidence": [
                {
                    "id": "608572",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608572"
                },
                {
                    "id": "0080695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080695"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06819-1",
            "uniprot_ac": "Q06819",
            "uniprot_id": "DIB1_YEAST",
            "refseq_ac": "NP_015407",
            "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": "Spliceosomal protein DIB1",
                    "type": "recommended"
                },
                {
                    "name": "U4/U6-U5 snRNP complex subunit DIB1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DIB1",
                    "type": "recommended"
                },
                {
                    "name": "CDH1",
                    "type": "synonym"
                },
                {
                    "name": "DIB1",
                    "type": "synonym"
                },
                {
                    "name": "P9513.12",
                    "type": "synonym"
                },
                {
                    "name": "SNU16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06819-1",
            "evidence": [
                {
                    "id": "0080695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080695"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K7P4-1",
            "uniprot_ac": "A0A0G2K7P4",
            "uniprot_id": "A0A0G2K7P4_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": "N-terminal amino-acid N(alpha)-acetyltransferase NatA",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.255",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Txnl4a",
                    "type": "recommended"
                },
                {
                    "name": "Naa12",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560212",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K7P4-1",
            "evidence": [
                {
                    "id": "0080695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080695"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FVI5-1",
            "uniprot_ac": "Q5FVI5",
            "uniprot_id": "Q5FVI5_RAT",
            "refseq_ac": "NP_001013913",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thioredoxin-like protein",
                    "type": "recommended"
                },
                {
                    "name": "Dim1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin-like protein 4B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin-like protein 4B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Txnl4b",
                    "type": "recommended"
                },
                {
                    "name": "RGD1305127",
                    "type": "synonym"
                },
                {
                    "name": "Txnl4b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FVI5-1",
            "evidence": [
                {
                    "id": "0080695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080695"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080695"
}