{
    "disease_id": "DOID:0060990",
    "recommended_name": {
        "id": "DOID:0060990",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060990",
        "name": "congenital disorder of deglycosylation 2",
        "description": "A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0030770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030770",
            "name": "congenital disorder of deglycosylation 2",
            "description": ""
        },
        {
            "id": "MONDO:0030770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030770",
            "name": "CDDG2",
            "description": ""
        },
        {
            "id": "MONDO:0030770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030770",
            "name": "congenital disorder of deglycosylation 2",
            "description": ""
        },
        {
            "id": "MIM:619775",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619775",
            "name": "Congenital disorder of deglycosylation 2",
            "description": "Congenital disorder of deglycosylation 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060990"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060990",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060990",
            "categories": []
        },
        {
            "id": "MONDO:0030770",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030770",
            "categories": []
        },
        {
            "id": "MIM:619775",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619775",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B7A6-1",
            "uniprot_ac": "A0A8M3B7A6",
            "uniprot_id": "A0A8M3B7A6_DANRE",
            "refseq_ac": "XP_009296368",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-mannosidase 2C1",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.24",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-D-mannoside mannohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Mannosidase alpha class 2C member 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-mannosidase 2C1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "man2c1",
                    "type": "recommended"
                },
                {
                    "name": "man2c1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B7A6-1",
            "evidence": [
                {
                    "id": "0060990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060990"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91W89-1",
            "uniprot_ac": "Q91W89",
            "uniprot_id": "MA2C1_MOUSE",
            "refseq_ac": "NP_082912",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-mannosidase 2C1",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.24",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-D-mannoside mannohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Mannosidase alpha class 2C member 1",
                    "type": "synonym"
                },
                {
                    "name": "Neutral/cytosolic alpha-mannosidase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-D-mannoside mannohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-mannosidase 2C1",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic alpha-D-mannosidase",
                    "type": "synonym"
                },
                {
                    "name": "neutral/cytosolic alpha-mannosidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Man2c1",
                    "type": "recommended"
                },
                {
                    "name": "1110025H24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Man2c1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91W89-1",
            "evidence": [
                {
                    "id": "0060990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060990"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NTJ4-1",
            "uniprot_ac": "Q9NTJ4",
            "uniprot_id": "MA2C1_HUMAN",
            "refseq_ac": "NP_001243423",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-mannosidase 2C1",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.24",
                    "type": "synonym"
                },
                {
                    "name": "Alpha mannosidase 6A8B",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-D-mannoside mannohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Mannosidase alpha class 2C member 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha mannosidase 6A8B",
                    "type": "synonym"
                },
                {
                    "name": "alpha-D-mannoside mannohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-mannosidase 2C1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-mannosidase 2C1",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic alpha-mannosidase",
                    "type": "synonym"
                },
                {
                    "name": "mannosidase, alpha 6A8",
                    "type": "synonym"
                },
                {
                    "name": "mannosidase, alpha A, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 115",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAN2C1",
                    "type": "recommended"
                },
                {
                    "name": "CDDG2",
                    "type": "synonym"
                },
                {
                    "name": "MAN2C1",
                    "type": "synonym"
                },
                {
                    "name": "MAN6A8",
                    "type": "synonym"
                },
                {
                    "name": "MANA1",
                    "type": "synonym"
                },
                {
                    "name": "MANA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NTJ4-1",
            "evidence": [
                {
                    "id": "619775",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619775"
                },
                {
                    "id": "0060990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060990"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22855-1",
            "uniprot_ac": "P22855",
            "uniprot_id": "MAN1_YEAST",
            "refseq_ac": "NP_011359",
            "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": "Alpha-mannosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.24",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-D-mannoside mannohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-mannosidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMS1",
                    "type": "recommended"
                },
                {
                    "name": "AMS1",
                    "type": "synonym"
                },
                {
                    "name": "G1861",
                    "type": "synonym"
                }
            ],
            "record_id": "P22855-1",
            "evidence": [
                {
                    "id": "0060990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060990"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21139-1",
            "uniprot_ac": "P21139",
            "uniprot_id": "MA2C1_RAT",
            "refseq_ac": "NP_640349",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-mannosidase 2C1",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.24",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-D-mannoside mannohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Mannosidase alpha class 2C member 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-D-mannoside mannohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-mannosidase 2C1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Man2c1",
                    "type": "recommended"
                },
                {
                    "name": "AMAN",
                    "type": "synonym"
                },
                {
                    "name": "Man2c1",
                    "type": "synonym"
                }
            ],
            "record_id": "P21139-1",
            "evidence": [
                {
                    "id": "0060990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060990"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060990"
}