{
    "disease_id": "DOID:0081180",
    "recommended_name": {
        "id": "DOID:0081180",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081180",
        "name": "autosomal recessive intellectual developmental disorder 12",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "MONDO:0012612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012612",
            "name": "intellectual disability, autosomal recessive 12",
            "description": ""
        },
        {
            "id": "MONDO:0012612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012612",
            "name": "intellectual developmental disorder, autosomal recessive 12",
            "description": ""
        },
        {
            "id": "MONDO:0012612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012612",
            "name": "intellectual disability, autosomal recessive 12",
            "description": ""
        },
        {
            "id": "MONDO:0012612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012612",
            "name": "intellectual disability, autosomal recessive type 12",
            "description": ""
        },
        {
            "id": "MONDO:0012612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012612",
            "name": "mental retardation, autosomal recessive type 12",
            "description": ""
        },
        {
            "id": "MONDO:0012612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012612",
            "name": "MRT12",
            "description": ""
        },
        {
            "id": "MONDO:0012612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012612",
            "name": "mental retardation, autosomal recessive 12",
            "description": ""
        },
        {
            "id": "MIM:611090",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611090",
            "name": "Intellectual developmental disorder, autosomal recessive 12",
            "description": "Intellectual developmental disorder, autosomal recessive 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081180"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081180",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081180",
            "categories": []
        },
        {
            "id": "MONDO:0012612",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012612",
            "categories": []
        },
        {
            "id": "MIM:611090",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611090",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q11203-1",
            "uniprot_ac": "Q11203",
            "uniprot_id": "SIAT6_HUMAN",
            "refseq_ac": "NP_001257388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.3.6",
                    "type": "synonym"
                },
                {
                    "name": "Alpha 2,3-ST 3",
                    "type": "synonym"
                },
                {
                    "name": "Beta-galactoside alpha-2,3-sialyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform k",
                    "type": "synonym"
                },
                {
                    "name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Gal beta-1,3(4)GlcNAc alpha-2,3 sialyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosaminide alpha-2,3-sialyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "ST3Gal III",
                    "type": "synonym"
                },
                {
                    "name": "ST3GalIII",
                    "type": "synonym"
                },
                {
                    "name": "ST3N",
                    "type": "synonym"
                },
                {
                    "name": "Sialyltransferase 6",
                    "type": "synonym"
                },
                {
                    "name": "alpha 2,3-ST 3",
                    "type": "synonym"
                },
                {
                    "name": "alpha 2,3-sialyltransferase III",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2,3-sialyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "sialyltransferase 6 (N-acetyllactosaminide alpha 2,3-sialyltransferase)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ST3GAL3",
                    "type": "recommended"
                },
                {
                    "name": "DEE15",
                    "type": "synonym"
                },
                {
                    "name": "EIEE15",
                    "type": "synonym"
                },
                {
                    "name": "MRT12",
                    "type": "synonym"
                },
                {
                    "name": "SIAT6",
                    "type": "synonym"
                },
                {
                    "name": "ST3GAL3",
                    "type": "synonym"
                },
                {
                    "name": "ST3GALII",
                    "type": "synonym"
                },
                {
                    "name": "ST3Gal III",
                    "type": "synonym"
                },
                {
                    "name": "ST3GalIII",
                    "type": "synonym"
                },
                {
                    "name": "ST3N",
                    "type": "synonym"
                }
            ],
            "record_id": "Q11203-1",
            "evidence": [
                {
                    "id": "6487",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/6487#disease"
                },
                {
                    "id": "0012612",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012612"
                },
                {
                    "id": "611090",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611090"
                },
                {
                    "id": "ST3GAL3",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ST3GAL3/#!details"
                },
                {
                    "id": "0081180",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081180"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PLX6-1",
            "uniprot_ac": "A0A8M9PLX6",
            "uniprot_id": "A0A8M9PLX6_DANRE",
            "refseq_ac": "XP_021332477",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.3.6",
                    "type": "synonym"
                },
                {
                    "name": "Beta-galactoside alpha-2,3-sialyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "Gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosaminide alpha-2,3-sialyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "ST3 beta-galactoside alpha-2,3-sialyltransferase 3a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ST3Gal III",
                    "type": "synonym"
                },
                {
                    "name": "ST3N",
                    "type": "synonym"
                },
                {
                    "name": "Sialyltransferase 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "st3gal3a",
                    "type": "recommended"
                },
                {
                    "name": "siat6",
                    "type": "synonym"
                },
                {
                    "name": "st3ga3-r",
                    "type": "synonym"
                },
                {
                    "name": "st3gal3a",
                    "type": "synonym"
                },
                {
                    "name": "st3gal3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63978",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PLX6-1",
            "evidence": [
                {
                    "id": "0081180",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081180"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97325-1",
            "uniprot_ac": "P97325",
            "uniprot_id": "SIAT6_MOUSE",
            "refseq_ac": "NP_001155246",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.3.6",
                    "type": "synonym"
                },
                {
                    "name": "Alpha 2,3-ST 3",
                    "type": "synonym"
                },
                {
                    "name": "Beta-galactoside alpha-2,3-sialyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform a",
                    "type": "synonym"
                },
                {
                    "name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosaminide alpha-2,3-sialyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "ST3Gal III",
                    "type": "synonym"
                },
                {
                    "name": "ST3GalIII",
                    "type": "synonym"
                },
                {
                    "name": "ST3N",
                    "type": "synonym"
                },
                {
                    "name": "Sialyltransferase 6",
                    "type": "synonym"
                },
                {
                    "name": "beta-galactoside alpha-2,3-sialyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "St3gal3",
                    "type": "recommended"
                },
                {
                    "name": "ST3GalIII",
                    "type": "synonym"
                },
                {
                    "name": "ST3N",
                    "type": "synonym"
                },
                {
                    "name": "Siat3",
                    "type": "synonym"
                },
                {
                    "name": "Siat6",
                    "type": "synonym"
                },
                {
                    "name": "St3gal3",
                    "type": "synonym"
                }
            ],
            "record_id": "P97325-1",
            "evidence": [
                {
                    "id": "0081180",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081180"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02734-1",
            "uniprot_ac": "Q02734",
            "uniprot_id": "SIAT6_RAT",
            "refseq_ac": "NP_113885",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.3.6",
                    "type": "synonym"
                },
                {
                    "name": "Alpha 2,3-ST 3",
                    "type": "synonym"
                },
                {
                    "name": "Beta-galactoside alpha-2,3-sialyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllacosaminide alpha 2,3-sialyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosaminide alpha-2,3-sialyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "ST3Gal III",
                    "type": "synonym"
                },
                {
                    "name": "ST3GalIII",
                    "type": "synonym"
                },
                {
                    "name": "ST3N",
                    "type": "synonym"
                },
                {
                    "name": "Sialyltransferase 6",
                    "type": "synonym"
                },
                {
                    "name": "beta-galactoside alpha-2,3-sialyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "sialyltransferase (N-acetyllacosaminide alpha 23-sialyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "sialyltransferase 6(N-acetyllacosaminide alpha 23-sialyltransferase)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "St3gal3",
                    "type": "recommended"
                },
                {
                    "name": "ST3Gal III",
                    "type": "synonym"
                },
                {
                    "name": "ST3GalIII",
                    "type": "synonym"
                },
                {
                    "name": "ST3N",
                    "type": "synonym"
                },
                {
                    "name": "Siat6",
                    "type": "synonym"
                },
                {
                    "name": "St3gal3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02734-1",
            "evidence": [
                {
                    "id": "0081180",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081180"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081180"
}