{
    "disease_id": "DOID:0060653",
    "recommended_name": {
        "id": "DOID:0060653",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060653",
        "name": "lethal congenital contracture syndrome 3",
        "description": "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060653",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060653",
            "name": "Israeli Bedouin type B multiple contracture syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012656",
            "name": "lethal congenital contracture syndrome 3",
            "description": "Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement."
        },
        {
            "id": "MONDO:0012656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012656",
            "name": "LCCS3",
            "description": ""
        },
        {
            "id": "MONDO:0012656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012656",
            "name": "PIP5K1C lethal congenital contracture syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012656",
            "name": "lethal congenital contractural syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0012656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012656",
            "name": "lethal congenital contracture syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0012656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012656",
            "name": "lethal congenital contracture syndrome caused by mutation in PIP5K1C",
            "description": ""
        },
        {
            "id": "MONDO:0012656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012656",
            "name": "lethal congenital contracture syndrome type 3",
            "description": ""
        },
        {
            "id": "MIM:611369",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611369",
            "name": "Lethal congenital contracture syndrome 3",
            "description": "Lethal congenital contracture syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060653"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060653",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060653",
            "categories": []
        },
        {
            "id": "MONDO:0012656",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012656",
            "categories": []
        },
        {
            "id": "MIM:611369",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611369",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B5L6-1",
            "uniprot_ac": "A0A8M3B5L6",
            "uniprot_id": "A0A8M3B5L6_DANRE",
            "refseq_ac": "XP_009294612",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pip5k1ca",
                    "type": "recommended"
                },
                {
                    "name": "pip5k1ca",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B5L6-1",
            "evidence": [
                {
                    "id": "0060653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58G7V2-1",
            "uniprot_ac": "A0AC58G7V2",
            "uniprot_id": "A0AC58G7V2_DANRE",
            "refseq_ac": "XP_073765804",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-4-phosphate 5-kinase, type I, gamma b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pip5k1cb",
                    "type": "recommended"
                },
                {
                    "name": "pip5k1cb",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-117a23.4",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-243a15.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58G7V2-1",
            "evidence": [
                {
                    "id": "0060653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70161-1",
            "uniprot_ac": "O70161",
            "uniprot_id": "PI51C_MOUSE",
            "refseq_ac": "NP_001140159",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.68",
                    "type": "synonym"
                },
                {
                    "name": "PIP5K1-gamma",
                    "type": "synonym"
                },
                {
                    "name": "PIP5KIgamma",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4-phosphate 5-kinase type I gamma",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns(4)P-5-kinase 1 gamma",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-phosphate 5-kinase type I gamma",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns(4)P-5-kinase 1 gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pip5k1c",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0589",
                    "type": "synonym"
                },
                {
                    "name": "Pip5k1c",
                    "type": "synonym"
                },
                {
                    "name": "Pip5kIgamma",
                    "type": "synonym"
                }
            ],
            "record_id": "O70161-1",
            "evidence": [
                {
                    "id": "0060653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60331-1",
            "uniprot_ac": "O60331",
            "uniprot_id": "PI51C_HUMAN",
            "refseq_ac": "NP_001182662",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.68",
                    "type": "synonym"
                },
                {
                    "name": "PIP5K1gamma",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns(4)P-5-kinase 1 gamma",
                    "type": "synonym"
                },
                {
                    "name": "Type I phosphatidylinositol 4-phosphate 5-kinase gamma",
                    "type": "synonym"
                },
                {
                    "name": "diphosphoinositide kinase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-4-phosphate 5-kinase, type I, gamma",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns(4)P-5-kinase 1 gamma",
                    "type": "synonym"
                },
                {
                    "name": "type I PIP kinase",
                    "type": "synonym"
                },
                {
                    "name": "type I phosphatidylinositol 4-phosphate 5-kinase gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIP5K1C",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0589",
                    "type": "synonym"
                },
                {
                    "name": "LCCS3",
                    "type": "synonym"
                },
                {
                    "name": "PIP5K-GAMMA",
                    "type": "synonym"
                },
                {
                    "name": "PIP5K1-gamma",
                    "type": "synonym"
                },
                {
                    "name": "PIP5K1C",
                    "type": "synonym"
                },
                {
                    "name": "PIP5Kgamma",
                    "type": "synonym"
                }
            ],
            "record_id": "O60331-1",
            "evidence": [
                {
                    "id": "611369",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611369"
                },
                {
                    "id": "0060653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38994-1",
            "uniprot_ac": "P38994",
            "uniprot_id": "ITS3_YEAST",
            "refseq_ac": "NP_010494",
            "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": "Phosphatidylinositol 4-phosphate 5-kinase MSS4",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4-phosphate kinase",
                    "type": "synonym"
                },
                {
                    "name": "1-phosphatidylinositol-4-phosphate 5-kinase",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.68",
                    "type": "synonym"
                },
                {
                    "name": "Diphosphoinositide kinase",
                    "type": "synonym"
                },
                {
                    "name": "PIP5K",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSS4",
                    "type": "recommended"
                },
                {
                    "name": "MSS4",
                    "type": "synonym"
                },
                {
                    "name": "YD8142A.05",
                    "type": "synonym"
                }
            ],
            "record_id": "P38994-1",
            "evidence": [
                {
                    "id": "0060653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5I6B8-1",
            "uniprot_ac": "Q5I6B8",
            "uniprot_id": "PI51C_RAT",
            "refseq_ac": "NP_001029142",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.68",
                    "type": "synonym"
                },
                {
                    "name": "PIP5K1-gamma",
                    "type": "synonym"
                },
                {
                    "name": "PIP5KIgamma",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4-phosphate 5-kinase type I gamma",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns(4)P-5-kinase 1 gamma",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-phosphate 5-kinase type I gamma",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform b",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns(4)P-5-kinase 1 gamma",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns(4)P-5-kinase gamma",
                    "type": "synonym"
                },
                {
                    "name": "ptdInsPKIgamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pip5k1c",
                    "type": "recommended"
                },
                {
                    "name": "Pip5k1c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5I6B8-1",
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                {
                    "id": "0060653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2R3-1",
            "uniprot_ac": "Q9W2R3",
            "uniprot_id": "PI5K1_DROME",
            "refseq_ac": "NP_001286646",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4-phosphate 5-kinase type-1 sktl",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.68",
                    "type": "synonym"
                },
                {
                    "name": "CG9985-PB",
                    "type": "synonym"
                },
                {
                    "name": "PIP5-kinase",
                    "type": "synonym"
                },
                {
                    "name": "Protein Skittles",
                    "type": "synonym"
                },
                {
                    "name": "fata morgana",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-phosphate 5-kinase",
                    "type": "synonym"
                },
                {
                    "name": "skittles, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "skittles",
                    "type": "synonym"
                },
                {
                    "name": "sktl-PB",
                    "type": "synonym"
                },
                {
                    "name": "type I phosphatidylinositol 4-phosphate 5-kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sktl",
                    "type": "recommended"
                },
                {
                    "name": "25/17",
                    "type": "synonym"
                },
                {
                    "name": "CG9985",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9985",
                    "type": "synonym"
                },
                {
                    "name": "PIP5-kinase",
                    "type": "synonym"
                },
                {
                    "name": "PIP5K 57B6",
                    "type": "synonym"
                },
                {
                    "name": "PIP5K",
                    "type": "synonym"
                },
                {
                    "name": "SKTL",
                    "type": "synonym"
                },
                {
                    "name": "Sktl",
                    "type": "synonym"
                },
                {
                    "name": "fam",
                    "type": "synonym"
                },
                {
                    "name": "l(2)05475",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k12405",
                    "type": "synonym"
                },
                {
                    "name": "ski",
                    "type": "synonym"
                },
                {
                    "name": "sktl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2R3-1",
            "evidence": [
                {
                    "id": "0060653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060653"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060653"
}