{
    "disease_id": "DOID:0060728",
    "recommended_name": {
        "id": "DOID:0060728",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060728",
        "name": "congenital disorder of deglycosylation 1",
        "description": "A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 3p24."
    },
    "synonyms": [
        {
            "id": "DOID:0060728",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060728",
            "name": "NGLY1-CDDG",
            "description": ""
        },
        {
            "id": "DOID:0060728",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060728",
            "name": "congenital disorder of glycosylation type Iv",
            "description": ""
        },
        {
            "id": "DOID:0060728",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060728",
            "name": "deficiency of N-glycanase 1",
            "description": ""
        },
        {
            "id": "DOID:0060728",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060728",
            "name": "NGLY1-deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "congenital disorder of deglycosylation 1",
            "description": "A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities."
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "CDDG",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "congenital disorder of deglycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "congenital disorder of deglycosylation;CDDG",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "CDG1V",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "NGLY1 Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "NGLY1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "NGLY1-CDDG",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "NGLY1-deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "NGLY1-related congenital disorder of deglycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "congenital disorder of deglycosylation 1",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "congenital disorder of glycosylation type IV",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "congenital disorder of glycosylation, type IV",
            "description": ""
        },
        {
            "id": "MIM:615273",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615273",
            "name": "Congenital disorder of deglycosylation 1",
            "description": "Congenital disorder of deglycosylation 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060728"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060728",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060728",
            "categories": []
        },
        {
            "id": "MONDO:0800044",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "categories": []
        },
        {
            "id": "MIM:615273",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615273",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q503I8-1",
            "uniprot_ac": "Q503I8",
            "uniprot_id": "NGLY1_DANRE",
            "refseq_ac": "NP_001018437",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.52",
                    "type": "synonym"
                },
                {
                    "name": "N-glycanase 1",
                    "type": "synonym"
                },
                {
                    "name": "PNGase",
                    "type": "synonym"
                },
                {
                    "name": "Peptide:N-glycanase",
                    "type": "synonym"
                },
                {
                    "name": "peptide-N(4)-(N-acetyl-beta- glucosaminyl)asparagine amidase",
                    "type": "synonym"
                },
                {
                    "name": "peptide:N-glycanase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ngly1",
                    "type": "recommended"
                },
                {
                    "name": "im:6895151",
                    "type": "synonym"
                },
                {
                    "name": "ngly1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110561",
                    "type": "synonym"
                }
            ],
            "record_id": "Q503I8-1",
            "evidence": [
                {
                    "id": "0060728",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060728"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JI78-1",
            "uniprot_ac": "Q9JI78",
            "uniprot_id": "NGLY1_MOUSE",
            "refseq_ac": "NP_067479",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.52",
                    "type": "synonym"
                },
                {
                    "name": "N-glycanase 1",
                    "type": "synonym"
                },
                {
                    "name": "PNGase",
                    "type": "synonym"
                },
                {
                    "name": "Peptide:N-glycanase",
                    "type": "synonym"
                },
                {
                    "name": "mPNGase",
                    "type": "synonym"
                },
                {
                    "name": "peptide N-glycanase homolog",
                    "type": "synonym"
                },
                {
                    "name": "peptide-N(4)-(N-acetyl-beta- glucosaminyl)asparagine amidase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ngly1",
                    "type": "recommended"
                },
                {
                    "name": "1110002C09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ngly1",
                    "type": "synonym"
                },
                {
                    "name": "PNGase",
                    "type": "synonym"
                },
                {
                    "name": "Png1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JI78-1",
            "evidence": [
                {
                    "id": "0060728",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060728"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96IV0-1",
            "uniprot_ac": "Q96IV0",
            "uniprot_id": "NGLY1_HUMAN",
            "refseq_ac": "NP_001138765",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.52",
                    "type": "synonym"
                },
                {
                    "name": "N-glycanase 1",
                    "type": "synonym"
                },
                {
                    "name": "PNGase",
                    "type": "synonym"
                },
                {
                    "name": "Peptide:N-glycanase",
                    "type": "synonym"
                },
                {
                    "name": "hPNGase",
                    "type": "synonym"
                },
                {
                    "name": "peptide-N(4)-(N-acetyl-beta- glucosaminyl)asparagine amidase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase",
                    "type": "synonym"
                },
                {
                    "name": "peptide:N-glycanase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NGLY1",
                    "type": "recommended"
                },
                {
                    "name": "CDDG",
                    "type": "synonym"
                },
                {
                    "name": "CDG1V",
                    "type": "synonym"
                },
                {
                    "name": "NGLY1",
                    "type": "synonym"
                },
                {
                    "name": "PNG-1",
                    "type": "synonym"
                },
                {
                    "name": "PNG1",
                    "type": "synonym"
                },
                {
                    "name": "PNGase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96IV0-1",
            "evidence": [
                {
                    "id": "615273",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615273"
                },
                {
                    "id": "NGLY1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/NGLY1/#!details"
                },
                {
                    "id": "0060728",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060728"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02890-1",
            "uniprot_ac": "Q02890",
            "uniprot_id": "PNG1_YEAST",
            "refseq_ac": "NP_015229",
            "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": "Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.52",
                    "type": "synonym"
                },
                {
                    "name": "PNGase",
                    "type": "synonym"
                },
                {
                    "name": "Peptide:N-glycanase 1",
                    "type": "synonym"
                },
                {
                    "name": "peptide-N4-(N-acetyl-beta- glucosaminyl)asparagine amidase",
                    "type": "synonym"
                },
                {
                    "name": "yPNG1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PNG1",
                    "type": "recommended"
                },
                {
                    "name": "PNG1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02890-1",
            "evidence": [
                {
                    "id": "0060728",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060728"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XI55-1",
            "uniprot_ac": "Q5XI55",
            "uniprot_id": "NGLY1_RAT",
            "refseq_ac": "NP_001014158",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.52",
                    "type": "synonym"
                },
                {
                    "name": "N-glycanase 1",
                    "type": "synonym"
                },
                {
                    "name": "PNGase",
                    "type": "synonym"
                },
                {
                    "name": "Peptide:N-glycanase",
                    "type": "synonym"
                },
                {
                    "name": "peptide-N(4)-(N-acetyl-beta- glucosaminyl)asparagine amidase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase",
                    "type": "synonym"
                },
                {
                    "name": "peptide:N-glycanase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ngly1",
                    "type": "recommended"
                },
                {
                    "name": "Ngly1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XI55-1",
            "evidence": [
                {
                    "id": "0060728",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060728"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36871-1",
            "uniprot_ac": "P36871",
            "uniprot_id": "PGM1_HUMAN",
            "refseq_ac": "NP_001166289",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoglucomutase-1",
                    "type": "recommended"
                },
                {
                    "name": "5.4.2.2",
                    "type": "synonym"
                },
                {
                    "name": "Glucose phosphomutase 1",
                    "type": "synonym"
                },
                {
                    "name": "PGM 1",
                    "type": "synonym"
                },
                {
                    "name": "glucose phosphomutase 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucomutase-1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PGM1",
                    "type": "recommended"
                },
                {
                    "name": "CDG1T",
                    "type": "synonym"
                },
                {
                    "name": "GSD14",
                    "type": "synonym"
                },
                {
                    "name": "PGM1",
                    "type": "synonym"
                }
            ],
            "record_id": "P36871-1",
            "evidence": [
                {
                    "id": "PGM1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/PGM1/#!details"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KRR5-1",
            "uniprot_ac": "Q7KRR5",
            "uniprot_id": "NGLY1_DROME",
            "refseq_ac": "NP_610192",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.52",
                    "type": "synonym"
                },
                {
                    "name": "CG7865-PA",
                    "type": "synonym"
                },
                {
                    "name": "PNGase-like, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "PNGase",
                    "type": "synonym"
                },
                {
                    "name": "Peptide:N-glycanase",
                    "type": "synonym"
                },
                {
                    "name": "Pngl-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pngl",
                    "type": "recommended"
                },
                {
                    "name": "CG7865",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7865",
                    "type": "synonym"
                },
                {
                    "name": "NGLY1",
                    "type": "synonym"
                },
                {
                    "name": "PNGase",
                    "type": "synonym"
                },
                {
                    "name": "Png1",
                    "type": "synonym"
                },
                {
                    "name": "Pngl",
                    "type": "synonym"
                },
                {
                    "name": "dNGLY1",
                    "type": "synonym"
                },
                {
                    "name": "ngly1",
                    "type": "synonym"
                },
                {
                    "name": "png1",
                    "type": "synonym"
                },
                {
                    "name": "pngl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KRR5-1",
            "evidence": [
                {
                    "id": "0060728",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060728"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060728"
}