{
    "disease_id": "DOID:0060647",
    "recommended_name": {
        "id": "DOID:0060647",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060647",
        "name": "fetal encasement syndrome",
        "description": "A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin."
    },
    "synonyms": [
        {
            "id": "DOID:0060647",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060647",
            "name": "cocoon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013334",
            "name": "cocoon syndrome",
            "description": "Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported."
        },
        {
            "id": "MONDO:0013334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013334",
            "name": "cocoon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013334",
            "name": "fetal encasement syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013334",
            "name": "foetal encasement syndrome",
            "description": ""
        },
        {
            "id": "MIM:613630",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613630",
            "name": "Cocoon syndrome",
            "description": "Cocoon syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060647"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060647",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060647",
            "categories": []
        },
        {
            "id": "MONDO:0013334",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013334",
            "categories": []
        },
        {
            "id": "MIM:613630",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613630",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q4G3H4-1",
            "uniprot_ac": "Q4G3H4",
            "uniprot_id": "IKKA_DANRE",
            "refseq_ac": "NP_956611",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inhibitor of nuclear factor kappa-B kinase subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.10",
                    "type": "synonym"
                },
                {
                    "name": "Conserved helix-loop-helix ubiquitous kinase",
                    "type": "synonym"
                },
                {
                    "name": "I kappa-B kinase alpha",
                    "type": "synonym"
                },
                {
                    "name": "I-kappa-B kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "IKK-A",
                    "type": "synonym"
                },
                {
                    "name": "IKK-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IKK1",
                    "type": "synonym"
                },
                {
                    "name": "IKKa",
                    "type": "synonym"
                },
                {
                    "name": "IkBKA",
                    "type": "synonym"
                },
                {
                    "name": "IkappaB kinase",
                    "type": "synonym"
                },
                {
                    "name": "NFKBIKA",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor NF-kappa-B inhibitor kinase alpha",
                    "type": "synonym"
                },
                {
                    "name": "conserved helix-loop-helix ubiquitous kinase",
                    "type": "synonym"
                },
                {
                    "name": "i kappa-B kinase alpha",
                    "type": "synonym"
                },
                {
                    "name": "ikBKA",
                    "type": "synonym"
                },
                {
                    "name": "ikappaB kinase",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of nuclear factor kappa-B kinase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B inhibitor kinase alpha",
                    "type": "synonym"
                },
                {
                    "name": "pky",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chuk",
                    "type": "recommended"
                },
                {
                    "name": "chuk",
                    "type": "synonym"
                },
                {
                    "name": "ikk1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56539",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4G3H4-1",
            "evidence": [
                {
                    "id": "0060647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60680-1",
            "uniprot_ac": "Q60680",
            "uniprot_id": "IKKA_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": "Inhibitor of nuclear factor kappa-B kinase subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.10",
                    "type": "synonym"
                },
                {
                    "name": "Conserved helix-loop-helix ubiquitous kinase",
                    "type": "synonym"
                },
                {
                    "name": "I-kappa-B kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "I-kappa-B kinase alpha",
                    "type": "synonym"
                },
                {
                    "name": "IKK-A",
                    "type": "synonym"
                },
                {
                    "name": "IKK-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IKK1",
                    "type": "synonym"
                },
                {
                    "name": "IkBKA",
                    "type": "synonym"
                },
                {
                    "name": "IkappaB kinase",
                    "type": "synonym"
                },
                {
                    "name": "NFKBIKA",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor NF-kappa-B inhibitor kinase alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chuk",
                    "type": "recommended"
                },
                {
                    "name": "Ikka",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60680-1",
            "evidence": [
                {
                    "id": "0060647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15111-1",
            "uniprot_ac": "O15111",
            "uniprot_id": "IKKA_HUMAN",
            "refseq_ac": "NP_001269",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inhibitor of nuclear factor kappa-B kinase subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.10",
                    "type": "synonym"
                },
                {
                    "name": "Conserved helix-loop-helix ubiquitous kinase",
                    "type": "synonym"
                },
                {
                    "name": "I-kappa-B kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "I-kappa-B kinase alpha",
                    "type": "synonym"
                },
                {
                    "name": "I-kappa-B kinase-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IKK-1",
                    "type": "synonym"
                },
                {
                    "name": "IKK-A",
                    "type": "synonym"
                },
                {
                    "name": "IKK-a kinase",
                    "type": "synonym"
                },
                {
                    "name": "IKK-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IKK1",
                    "type": "synonym"
                },
                {
                    "name": "IkB kinase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "IkBKA",
                    "type": "synonym"
                },
                {
                    "name": "IkappaB kinase",
                    "type": "synonym"
                },
                {
                    "name": "NFKBIKA",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor NF-kappa-B inhibitor kinase alpha",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor NFkappaB inhibitor kinase alpha",
                    "type": "synonym"
                },
                {
                    "name": "TCF-16",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 16",
                    "type": "synonym"
                },
                {
                    "name": "conserved helix-loop-helix ubiquitous kinase",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of nuclear factor kappa-B kinase subunit alpha isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of nuclear factor kappa-B kinase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHUK",
                    "type": "recommended"
                },
                {
                    "name": "BPS2",
                    "type": "synonym"
                },
                {
                    "name": "CHUK",
                    "type": "synonym"
                },
                {
                    "name": "IKBKA",
                    "type": "synonym"
                },
                {
                    "name": "IKK-1",
                    "type": "synonym"
                },
                {
                    "name": "IKK-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IKK1",
                    "type": "synonym"
                },
                {
                    "name": "IKKA",
                    "type": "synonym"
                },
                {
                    "name": "NFKBIKA",
                    "type": "synonym"
                },
                {
                    "name": "TCF16",
                    "type": "synonym"
                }
            ],
            "record_id": "O15111-1",
            "evidence": [
                {
                    "id": "613630",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613630"
                },
                {
                    "id": "0060647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V926-1",
            "uniprot_ac": "G3V926",
            "uniprot_id": "G3V926_RAT",
            "refseq_ac": "NP_001101058",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inhibitor of nuclear factor kappa-B kinase subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.10",
                    "type": "synonym"
                },
                {
                    "name": "I-kappa-B kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor NF-kappa-B inhibitor kinase alpha",
                    "type": "synonym"
                },
                {
                    "name": "conserved helix-loop-helix ubiquitous kinase",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of nuclear factor kappa-B kinase subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chuk",
                    "type": "recommended"
                },
                {
                    "name": "Chuk",
                    "type": "synonym"
                },
                {
                    "name": "Ikbka",
                    "type": "synonym"
                },
                {
                    "name": "Ikka",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V926-1",
            "evidence": [
                {
                    "id": "0060647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEZ5-1",
            "uniprot_ac": "Q9VEZ5",
            "uniprot_id": "IKKB_DROME",
            "refseq_ac": "NP_524751",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inhibitor of nuclear factor kappa-B kinase subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.10",
                    "type": "synonym"
                },
                {
                    "name": "CG4201-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cactus kinase IKK",
                    "type": "synonym"
                },
                {
                    "name": "DLAK",
                    "type": "synonym"
                },
                {
                    "name": "I-kappaB kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "I-kappaB kinase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IKK-like protein",
                    "type": "synonym"
                },
                {
                    "name": "IKKbeta-PB",
                    "type": "synonym"
                },
                {
                    "name": "Immune response deficient protein 5",
                    "type": "synonym"
                },
                {
                    "name": "LPS-responsive kinase",
                    "type": "synonym"
                },
                {
                    "name": "LPS-responsive-kinase",
                    "type": "synonym"
                },
                {
                    "name": "Lipopolysaccharide-activated kinase",
                    "type": "synonym"
                },
                {
                    "name": "cactus kinase",
                    "type": "synonym"
                },
                {
                    "name": "immune response deficient 5",
                    "type": "synonym"
                },
                {
                    "name": "immune response-deficient 5",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide activated kinase",
                    "type": "synonym"
                },
                {
                    "name": "mmune response deficient 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IKKbeta",
                    "type": "recommended"
                },
                {
                    "name": "CG4201",
                    "type": "synonym"
                },
                {
                    "name": "DIK",
                    "type": "synonym"
                },
                {
                    "name": "DLAK",
                    "type": "synonym"
                },
                {
                    "name": "DmIKKBeta",
                    "type": "synonym"
                },
                {
                    "name": "DmIKKbeta",
                    "type": "synonym"
                },
                {
                    "name": "DmIKKb",
                    "type": "synonym"
                },
                {
                    "name": "DmIKK",
                    "type": "synonym"
                },
                {
                    "name": "DmIkkbeta",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4201",
                    "type": "synonym"
                },
                {
                    "name": "Dmikkbeta",
                    "type": "synonym"
                },
                {
                    "name": "Dmikkb",
                    "type": "synonym"
                },
                {
                    "name": "IKK-beta",
                    "type": "synonym"
                },
                {
                    "name": "IKKBeta",
                    "type": "synonym"
                },
                {
                    "name": "IKKB",
                    "type": "synonym"
                },
                {
                    "name": "IKKbeta",
                    "type": "synonym"
                },
                {
                    "name": "IKKb",
                    "type": "synonym"
                },
                {
                    "name": "IKK",
                    "type": "synonym"
                },
                {
                    "name": "IK",
                    "type": "synonym"
                },
                {
                    "name": "IRD-5",
                    "type": "synonym"
                },
                {
                    "name": "IRD5",
                    "type": "synonym"
                },
                {
                    "name": "Ikkbeta",
                    "type": "synonym"
                },
                {
                    "name": "Ikkb",
                    "type": "synonym"
                },
                {
                    "name": "Ik",
                    "type": "synonym"
                },
                {
                    "name": "Ird-5",
                    "type": "synonym"
                },
                {
                    "name": "Ird5",
                    "type": "synonym"
                },
                {
                    "name": "LRK",
                    "type": "synonym"
                },
                {
                    "name": "Lak",
                    "type": "synonym"
                },
                {
                    "name": "anon-89Bd",
                    "type": "synonym"
                },
                {
                    "name": "dIKK-beta",
                    "type": "synonym"
                },
                {
                    "name": "dIKKbeta",
                    "type": "synonym"
                },
                {
                    "name": "dIKK",
                    "type": "synonym"
                },
                {
                    "name": "dLak",
                    "type": "synonym"
                },
                {
                    "name": "dmIKKbeta",
                    "type": "synonym"
                },
                {
                    "name": "ikk",
                    "type": "synonym"
                },
                {
                    "name": "ird-5",
                    "type": "synonym"
                },
                {
                    "name": "ird5/DmIkk[beta]",
                    "type": "synonym"
                },
                {
                    "name": "ird5",
                    "type": "synonym"
                },
                {
                    "name": "ird[5]",
                    "type": "synonym"
                },
                {
                    "name": "ird",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEZ5-1",
            "evidence": [
                {
                    "id": "0060647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060647"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060647"
}