{
    "disease_id": "DOID:0111555",
    "recommended_name": {
        "id": "DOID:0111555",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111555",
        "name": "Alkuraya-Kucinskas syndrome",
        "description": "A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27."
    },
    "synonyms": [
        {
            "id": "DOID:0111555",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111555",
            "name": "ALKKUCS",
            "description": ""
        },
        {
            "id": "MONDO:0060631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060631",
            "name": "Alkuraya-Kucinskas syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0060631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060631",
            "name": "Alkuraya-Kucinskas syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0060631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060631",
            "name": "ALKKUCS",
            "description": ""
        },
        {
            "id": "MIM:617822",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617822",
            "name": "Alkuraya-Kucinskas syndrome",
            "description": "Alkuraya-Kucinskas syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111555"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111555",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111555",
            "categories": []
        },
        {
            "id": "MONDO:0060631",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060631",
            "categories": []
        },
        {
            "id": "MIM:617822",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617822",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PXZ1-1",
            "uniprot_ac": "A0A8M9PXZ1",
            "uniprot_id": "A0A8M9PXZ1_DANRE",
            "refseq_ac": "XP_021336292",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bridge-like lipid transfer protein family member 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "bridge-like lipid transfer protein family member 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kiaa1109",
                    "type": "recommended"
                },
                {
                    "name": "bltp1",
                    "type": "synonym"
                },
                {
                    "name": "kiaa1109",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-233a24.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PXZ1-1",
            "evidence": [
                {
                    "id": "0111555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AAE1-1",
            "uniprot_ac": "A2AAE1",
            "uniprot_id": "BLTP1_MOUSE",
            "refseq_ac": "NP_766267",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bridge-like lipid transfer protein family member 1",
                    "type": "recommended"
                },
                {
                    "name": "Fragile site-associated protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "bridge-like lipid transfer protein family member 1",
                    "type": "synonym"
                },
                {
                    "name": "fragile site-associated protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bltp1",
                    "type": "recommended"
                },
                {
                    "name": "4732443H21",
                    "type": "synonym"
                },
                {
                    "name": "4932438A13Rik",
                    "type": "synonym"
                },
                {
                    "name": "B830039D19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bltp1",
                    "type": "synonym"
                },
                {
                    "name": "D630029K19Rik",
                    "type": "synonym"
                },
                {
                    "name": "FSA",
                    "type": "synonym"
                },
                {
                    "name": "Fsa",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1109",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1371",
                    "type": "synonym"
                },
                {
                    "name": "Tweek",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AAE1-1",
            "evidence": [
                {
                    "id": "0111555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2LD37-1",
            "uniprot_ac": "Q2LD37",
            "uniprot_id": "BLTP1_HUMAN",
            "refseq_ac": "NP_056127",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bridge-like lipid transfer protein family member 1",
                    "type": "recommended"
                },
                {
                    "name": "Fragile site-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "bridge-like lipid transfer protein family member 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "fragile site-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BLTP1",
                    "type": "recommended"
                },
                {
                    "name": "ALKKUCS",
                    "type": "synonym"
                },
                {
                    "name": "BLTP1",
                    "type": "synonym"
                },
                {
                    "name": "FSA",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1109",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1371",
                    "type": "synonym"
                },
                {
                    "name": "TWEEK",
                    "type": "synonym"
                },
                {
                    "name": "Tweek",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2LD37-1",
            "evidence": [
                {
                    "id": "617822",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617822"
                },
                {
                    "id": "0111555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12150-1",
            "uniprot_ac": "Q12150",
            "uniprot_id": "CSF1_YEAST",
            "refseq_ac": "NP_013188",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein CSF1",
                    "type": "recommended"
                },
                {
                    "name": "BLTP1",
                    "type": "synonym"
                },
                {
                    "name": "Bridge-like lipid transfer protein family member 1",
                    "type": "synonym"
                },
                {
                    "name": "Cold sensitive for fermentation protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Csf1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CSF1",
                    "type": "recommended"
                },
                {
                    "name": "CSF1",
                    "type": "synonym"
                },
                {
                    "name": "TWEEK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12150-1",
            "evidence": [
                {
                    "id": "0111555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LVK0-1",
            "uniprot_ac": "F1LVK0",
            "uniprot_id": "F1LVK0_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": "Bridge-like lipid transfer protein family member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bltp1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1307100",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LVK0-1",
            "evidence": [
                {
                    "id": "0111555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X2JA38-1",
            "uniprot_ac": "X2JA38",
            "uniprot_id": "X2JA38_DROME",
            "refseq_ac": "NP_001286002",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42555-PJ",
                    "type": "synonym"
                },
                {
                    "name": "Tweek, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "tweek, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "tweek-PJ",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tweek",
                    "type": "recommended"
                },
                {
                    "name": "CG15133",
                    "type": "synonym"
                },
                {
                    "name": "CG15134",
                    "type": "synonym"
                },
                {
                    "name": "CG42555",
                    "type": "synonym"
                },
                {
                    "name": "CG42706",
                    "type": "synonym"
                },
                {
                    "name": "CG4841",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42555",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42555",
                    "type": "synonym"
                },
                {
                    "name": "Tweek",
                    "type": "synonym"
                },
                {
                    "name": "tweek",
                    "type": "synonym"
                }
            ],
            "record_id": "X2JA38-1",
            "evidence": [
                {
                    "id": "0111555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111555"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111555"
}