{
    "disease_id": "DOID:0051049",
    "recommended_name": {
        "id": "DOID:0051049",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0051049",
        "name": "congenital disorder of glycosylation type IIt",
        "description": "A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41."
    },
    "synonyms": [
        {
            "id": "MONDO:0030043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030043",
            "name": "congenital disorder of glycosylation, type iit",
            "description": ""
        },
        {
            "id": "MONDO:0030043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030043",
            "name": "CDG2T",
            "description": ""
        },
        {
            "id": "MONDO:0030043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030043",
            "name": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt",
            "description": ""
        },
        {
            "id": "MONDO:0030043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030043",
            "name": "Cdg Iit",
            "description": ""
        },
        {
            "id": "MIM:618885",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618885",
            "name": "Congenital disorder of glycosylation 2T",
            "description": "Congenital disorder of glycosylation 2T"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051049"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051049",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0051049",
            "categories": []
        },
        {
            "id": "MONDO:0030043",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030043",
            "categories": []
        },
        {
            "id": "MIM:618885",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618885",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6WV19-1",
            "uniprot_ac": "Q6WV19",
            "uniprot_id": "GALT2_DROME",
            "refseq_ac": "NP_608773",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polypeptide N-acetylgalactosaminyltransferase 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.41",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG3254-PA; Pgant2-PA; polypeptide GalNAc transferase 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Protein-UDP acetylgalactosaminyltransferase 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "polypeptide N-Acetylgalactosaminyltransferase 2, isoform A",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "pp-GaNTase 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pgant2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG3254; Dmel\\CG3254; DmGalNAc-T2; pgant2; PGANT2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG3254",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Pgant2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051049",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PB93-1",
            "uniprot_ac": "Q6PB93",
            "uniprot_id": "GALT2_MOUSE",
            "refseq_ac": "NP_644678",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polypeptide N-acetylgalactosaminyltransferase 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.41",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GalNAc-T2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Polypeptide GalNAc transferase 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein-UDP acetylgalactosaminyltransferase 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "galNAc-T2; pp-GaNTase 2; polypeptide GalNAc transferase 2; protein-UDP acetylgalactosaminyltransferase 2; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2; ppGaNTase-T2; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "polypeptide N-acetylgalactosaminyltransferase 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "pp-GaNTase 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galnt2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Galnt2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051049",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q10471-1",
            "uniprot_ac": "Q10471",
            "uniprot_id": "GALT2_HUMAN",
            "refseq_ac": "NP_001278795",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polypeptide N-acetylgalactosaminyltransferase 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.41",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GalNAc-T2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Polypeptide GalNAc transferase 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein-UDP acetylgalactosaminyltransferase 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "polypeptide N-acetylgalactosaminyltransferase 2 isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "pp-GaNTase 2; polypeptide GalNAc transferase 2; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2); UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "pp-GaNTase 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GALNT2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CDG2T; GalNAc-T2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GALNT2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "GALNT2",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GALNT2/#!details"
                },
                {
                    "id": "0051049",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051049"
                },
                {
                    "id": "618885",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618885"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3B826-1",
            "uniprot_ac": "A0A8M3B826",
            "uniprot_id": "A0A8M3B826_DANRE",
            "refseq_ac": "XP_009305623",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polypeptide N-acetylgalactosaminyltransferase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein-UDP acetylgalactosaminyltransferase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "polypeptide N-acetylgalactosaminyltransferase 2 isoform X1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "galnt2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "galnt2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "im:7140357; si:dkey-162b3.1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "im:7140357",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-162b3.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051049",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AU26-1",
            "uniprot_ac": "A0A8I6AU26",
            "uniprot_id": "A0A8I6AU26_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polypeptide N-acetylgalactosaminyltransferase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein-UDP acetylgalactosaminyltransferase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galnt2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                }
            ],
            "evidence": [
                {
                    "id": "0051049",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051049"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051049"
}