{
    "disease_id": "DOID:0112152",
    "recommended_name": {
        "id": "DOID:0112152",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112152",
        "name": "CHIME syndrome",
        "description": "A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112152",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112152",
            "name": "neuroectodermal dysplasia, CHIME type",
            "description": ""
        },
        {
            "id": "DOID:0112152",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112152",
            "name": "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112152",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112152",
            "name": "Zunich neuroectodermal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112152",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112152",
            "name": "congenital disorder of glycosylation due to PIGL deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112152",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112152",
            "name": "Zunich-Kaye syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112152",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112152",
            "name": "neuroectodermal syndrome, Zunich type",
            "description": ""
        },
        {
            "id": "DOID:0112152",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112152",
            "name": "PIGL-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "CHIME syndrome",
            "description": "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy."
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "CHIME syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "PIGL-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "Zunich-Kaye syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "congenital disorder of glycosylation due to PIGL deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "neuroectodermal dysplasia, CHIME type",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "neuroectodermal syndrome, Zunich type",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "CHIME",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome",
            "description": ""
        },
        {
            "id": "MIM:280000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/280000",
            "name": "Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome",
            "description": "Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112152"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112152",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112152",
            "categories": []
        },
        {
            "id": "MONDO:0010221",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "categories": []
        },
        {
            "id": "MIM:280000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/280000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P3K2-1",
            "uniprot_ac": "A0A8M1P3K2",
            "uniprot_id": "A0A8M1P3K2_DANRE",
            "refseq_ac": "NP_001243584",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylglucosaminylphosphatidylinositol deacetylase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.89",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pigl",
                    "type": "recommended"
                },
                {
                    "name": "im:6902701",
                    "type": "synonym"
                },
                {
                    "name": "pigl",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-202a12.6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P3K2-1",
            "evidence": [
                {
                    "id": "0112152",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112152"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SX19-1",
            "uniprot_ac": "Q5SX19",
            "uniprot_id": "PIGL_MOUSE",
            "refseq_ac": "NP_001034625",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.89",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase",
                    "type": "synonym"
                },
                {
                    "name": "PIG-L",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class L protein",
                    "type": "synonym"
                },
                {
                    "name": "ortholog of human and rat phosphatidylinositol glycan class L PIGL",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class L protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigl",
                    "type": "recommended"
                },
                {
                    "name": "Gm737",
                    "type": "synonym"
                },
                {
                    "name": "Pigl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SX19-1",
            "evidence": [
                {
                    "id": "0112152",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0112152"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2B2-1",
            "uniprot_ac": "Q9Y2B2",
            "uniprot_id": "PIGL_HUMAN",
            "refseq_ac": "NP_004269",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.89",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminylphosphatidylinositol deacetylase",
                    "type": "synonym"
                },
                {
                    "name": "PIG-L",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class L protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class L",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class L protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIGL",
                    "type": "recommended"
                },
                {
                    "name": "CHIME",
                    "type": "synonym"
                },
                {
                    "name": "PIGL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2B2-1",
            "evidence": [
                {
                    "id": "0010221",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010221"
                },
                {
                    "id": "280000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/280000"
                },
                {
                    "id": "PIGL",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/PIGL/#!details"
                },
                {
                    "id": "0112152",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112152"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23797-1",
            "uniprot_ac": "P23797",
            "uniprot_id": "GPI12_YEAST",
            "refseq_ac": "NP_014008",
            "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": "N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.89",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminylphosphatidylinositol deacetylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPI12",
                    "type": "recommended"
                },
                {
                    "name": "GPI12",
                    "type": "synonym"
                },
                {
                    "name": "YM8021.07",
                    "type": "synonym"
                }
            ],
            "record_id": "P23797-1",
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                {
                    "id": "0112152",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112152"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35790-1",
            "uniprot_ac": "O35790",
            "uniprot_id": "PIGL_RAT",
            "refseq_ac": "NP_620256",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.89",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase",
                    "type": "synonym"
                },
                {
                    "name": "PIG-L",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class L protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class L",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class L protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigl",
                    "type": "recommended"
                },
                {
                    "name": "Pigl",
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                }
            ],
            "record_id": "O35790-1",
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                    "id": "0112152",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0112152"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4K6Q5-1",
            "uniprot_ac": "A0A0B4K6Q5",
            "uniprot_id": "A0A0B4K6Q5_DROME",
            "refseq_ac": "NP_001247201",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.89",
                    "type": "synonym"
                },
                {
                    "name": "CG4433-PC",
                    "type": "synonym"
                },
                {
                    "name": "PIG-L-PC",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class L protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan anchor biosynthesis class L, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIG-L",
                    "type": "recommended"
                },
                {
                    "name": "CG4433",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4433",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4433",
                    "type": "synonym"
                },
                {
                    "name": "PIG-L",
                    "type": "synonym"
                },
                {
                    "name": "PIGL",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4K6Q5-1",
            "evidence": [
                {
                    "id": "0112152",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112152"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112152"
}