{
    "disease_id": "DOID:0051050",
    "recommended_name": {
        "id": "DOID:0051050",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051050",
        "name": "congenital disorder of glycosylation type IIv",
        "description": "A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0030423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030423",
            "name": "congenital disorder of glycosylation, type 2v",
            "description": ""
        },
        {
            "id": "MONDO:0030423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030423",
            "name": "CDG2V",
            "description": ""
        },
        {
            "id": "MIM:619493",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619493",
            "name": "Congenital disorder of glycosylation 2V",
            "description": "Congenital disorder of glycosylation 2V"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051050"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051050",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051050",
            "categories": []
        },
        {
            "id": "MONDO:0030423",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030423",
            "categories": []
        },
        {
            "id": "MIM:619493",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619493",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BEF7-1",
            "uniprot_ac": "A0A8M2BEF7",
            "uniprot_id": "A0A8M2BEF7_DANRE",
            "refseq_ac": "XP_005166989",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "alpha-1,2-Mannosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "ER degradation-enhancing alpha-mannosidase-like protein 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "edem3",
                    "type": "recommended"
                },
                {
                    "name": "edem3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BEF7-1",
            "evidence": [
                {
                    "id": "0051050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2HXL6-1",
            "uniprot_ac": "Q2HXL6",
            "uniprot_id": "EDEM3_MOUSE",
            "refseq_ac": "NP_001034733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ER degradation-enhancing alpha-mannosidase-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.113",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-1,2-mannosidase EDEM3",
                    "type": "synonym"
                },
                {
                    "name": "ER degradation-enhancing alpha-mannosidase-like 3",
                    "type": "synonym"
                },
                {
                    "name": "ER degradation-enhancing alpha-mannosidase-like protein 3 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ER degradation-enhancing alpha-mannosidase-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,2-mannosidase EDEM3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Edem3",
                    "type": "recommended"
                },
                {
                    "name": "2310050N11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Edem3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2HXL6-1",
            "evidence": [
                {
                    "id": "0051050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BZQ6-1",
            "uniprot_ac": "Q9BZQ6",
            "uniprot_id": "EDEM3_HUMAN",
            "refseq_ac": "NP_001306889",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ER degradation-enhancing alpha-mannosidase-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.113",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-1,2-mannosidase EDEM3",
                    "type": "synonym"
                },
                {
                    "name": "ER degradation enhancer, mannosidase alpha-like 3",
                    "type": "synonym"
                },
                {
                    "name": "ER degradation-enhancing -mannosidase-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ER degradation-enhancing alpha-mannosidase-like 3",
                    "type": "synonym"
                },
                {
                    "name": "ER degradation-enhancing alpha-mannosidase-like protein 3 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,2-mannosidase EDEM3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EDEM3",
                    "type": "recommended"
                },
                {
                    "name": "C1orf22",
                    "type": "synonym"
                },
                {
                    "name": "CDG2V",
                    "type": "synonym"
                },
                {
                    "name": "EDEM3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BZQ6-1",
            "evidence": [
                {
                    "id": "619493",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619493"
                },
                {
                    "id": "EDEM3",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/EDEM3/#!details"
                },
                {
                    "id": "0051050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AKY3-1",
            "uniprot_ac": "A0A8I6AKY3",
            "uniprot_id": "A0A8I6AKY3_RAT",
            "refseq_ac": "XP_017454191",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "alpha-1,2-Mannosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "ER degradation-enhancing alpha-mannosidase-like protein 3 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Edem3",
                    "type": "recommended"
                },
                {
                    "name": "Edem3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561496",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AKY3-1",
            "evidence": [
                {
                    "id": "0051050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VK27-1",
            "uniprot_ac": "Q9VK27",
            "uniprot_id": "Q9VK27_DROME",
            "refseq_ac": "NP_609611",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "alpha-1,2-Mannosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG5682-PA",
                    "type": "synonym"
                },
                {
                    "name": "ER degradation enhancer, mannosidase alpha-like 2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Edem2-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Edem2",
                    "type": "recommended"
                },
                {
                    "name": "CG5682",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5682",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5682",
                    "type": "synonym"
                },
                {
                    "name": "EDEM2",
                    "type": "synonym"
                },
                {
                    "name": "Edem2",
                    "type": "synonym"
                },
                {
                    "name": "dEDEM2",
                    "type": "synonym"
                },
                {
                    "name": "edem2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VK27-1",
            "evidence": [
                {
                    "id": "0051050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051050"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051050"
}