{
    "disease_id": "DOID:0081210",
    "recommended_name": {
        "id": "DOID:0081210",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081210",
        "name": "autosomal recessive intellectual developmental disorder 46",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33."
    },
    "synonyms": [
        {
            "id": "MONDO:0014499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014499",
            "name": "intellectual disability, autosomal recessive 46",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene."
        },
        {
            "id": "MONDO:0014499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014499",
            "name": "NDST1 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014499",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1",
            "description": ""
        },
        {
            "id": "MONDO:0014499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014499",
            "name": "intellectual disability, autosomal recessive 46",
            "description": ""
        },
        {
            "id": "MONDO:0014499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014499",
            "name": "intellectual disability, autosomal recessive type 46",
            "description": ""
        },
        {
            "id": "MONDO:0014499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014499",
            "name": "mental retardation, autosomal recessive type 46",
            "description": ""
        },
        {
            "id": "MONDO:0014499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014499",
            "name": "MRT46",
            "description": ""
        },
        {
            "id": "MONDO:0014499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014499",
            "name": "mental retardation, autosomal recessive 46",
            "description": ""
        },
        {
            "id": "MIM:616116",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616116",
            "name": "Intellectual developmental disorder, autosomal recessive 46",
            "description": "Intellectual developmental disorder, autosomal recessive 46"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081210"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081210",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081210",
            "categories": []
        },
        {
            "id": "MONDO:0014499",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014499",
            "categories": []
        },
        {
            "id": "MIM:616116",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616116",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IR84-1",
            "uniprot_ac": "A0A0R4IR84",
            "uniprot_id": "A0A0R4IR84_DANRE",
            "refseq_ac": "NP_001311384",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.8",
                    "type": "synonym"
                },
                {
                    "name": "Glucosaminyl N-deacetylase/N-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndst1b",
                    "type": "recommended"
                },
                {
                    "name": "fj47c03",
                    "type": "synonym"
                },
                {
                    "name": "ndst1b",
                    "type": "synonym"
                },
                {
                    "name": "ndst1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj47c03",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IR84-1",
            "evidence": [
                {
                    "id": "0081210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081210"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7F0G2-1",
            "uniprot_ac": "E7F0G2",
            "uniprot_id": "E7F0G2_DANRE",
            "refseq_ac": "NP_001311428",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.8",
                    "type": "synonym"
                },
                {
                    "name": "Glucosaminyl N-deacetylase/N-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1-like",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndst1a",
                    "type": "recommended"
                },
                {
                    "name": "ndst1a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F0G2-1",
            "evidence": [
                {
                    "id": "0081210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081210"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UHN9-1",
            "uniprot_ac": "Q3UHN9",
            "uniprot_id": "NDST1_MOUSE",
            "refseq_ac": "NP_001335029",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "Glucosaminyl N-deacetylase/N-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "HSNST 1",
                    "type": "synonym"
                },
                {
                    "name": "N-HSST 1",
                    "type": "synonym"
                },
                {
                    "name": "N-heparan sulfate sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "NDST-1",
                    "type": "synonym"
                },
                {
                    "name": "[Heparan sulfate]-glucosamine N-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndst1",
                    "type": "recommended"
                },
                {
                    "name": "1200015G06Rik",
                    "type": "synonym"
                },
                {
                    "name": "HSNST 1",
                    "type": "synonym"
                },
                {
                    "name": "HSNST",
                    "type": "synonym"
                },
                {
                    "name": "Hsst",
                    "type": "synonym"
                },
                {
                    "name": "N-HSST 1",
                    "type": "synonym"
                },
                {
                    "name": "N-HSST",
                    "type": "synonym"
                },
                {
                    "name": "NDST-1",
                    "type": "synonym"
                },
                {
                    "name": "Ndst1",
                    "type": "synonym"
                },
                {
                    "name": "b2b2230Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UHN9-1",
            "evidence": [
                {
                    "id": "0081210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081210"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52848-1",
            "uniprot_ac": "P52848",
            "uniprot_id": "NDST1_HUMAN",
            "refseq_ac": "NP_001287992",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "Glucosaminyl N-deacetylase/N-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "HSNST 1",
                    "type": "synonym"
                },
                {
                    "name": "N-Deacetylase-N-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "N-HSST 1",
                    "type": "synonym"
                },
                {
                    "name": "N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1",
                    "type": "synonym"
                },
                {
                    "name": "N-deacetylase/N-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "N-heparan sulfate sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "NDST-1",
                    "type": "synonym"
                },
                {
                    "name": "[Heparan sulfate]-glucosamine N-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "glucosaminyl N-deacetylase/N-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "heparan sulfate-N-deacetylase/N-sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDST1",
                    "type": "recommended"
                },
                {
                    "name": "HSST1",
                    "type": "synonym"
                },
                {
                    "name": "HSST",
                    "type": "synonym"
                },
                {
                    "name": "MRT46",
                    "type": "synonym"
                },
                {
                    "name": "NDST1",
                    "type": "synonym"
                },
                {
                    "name": "NST1",
                    "type": "synonym"
                }
            ],
            "record_id": "P52848-1",
            "evidence": [
                {
                    "id": "616116",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616116"
                },
                {
                    "id": "0081210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081210"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02353-1",
            "uniprot_ac": "Q02353",
            "uniprot_id": "NDST1_RAT",
            "refseq_ac": "NP_077337",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "Glucosaminyl N-deacetylase/N-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Golgi heparan sulfate N-deacetylase/N-sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "HSNST 1",
                    "type": "synonym"
                },
                {
                    "name": "N-HSST 1",
                    "type": "synonym"
                },
                {
                    "name": "N-HSST",
                    "type": "synonym"
                },
                {
                    "name": "N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1",
                    "type": "synonym"
                },
                {
                    "name": "N-heparan sulfate sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "NDST-1",
                    "type": "synonym"
                },
                {
                    "name": "[Heparan sulfate]-glucosamine N-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "glucosaminyl N-deacetylase/N-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "heparan sulfate-N-deacetylase/N-sulfotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndst1",
                    "type": "recommended"
                },
                {
                    "name": "Hsst1",
                    "type": "synonym"
                },
                {
                    "name": "Hsst",
                    "type": "synonym"
                },
                {
                    "name": "N-HSST",
                    "type": "synonym"
                },
                {
                    "name": "Ndst1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02353-1",
            "evidence": [
                {
                    "id": "0081210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081210"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3L1-1",
            "uniprot_ac": "Q9V3L1",
            "uniprot_id": "NDST_DROME",
            "refseq_ac": "NP_001163354",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.8",
                    "type": "synonym"
                },
                {
                    "name": "CG8339-PB",
                    "type": "synonym"
                },
                {
                    "name": "Glucosaminyl N-deacetylase/N-sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "HS N-deacetylase/N-sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Sulfateless",
                    "type": "synonym"
                },
                {
                    "name": "diet-wingless",
                    "type": "synonym"
                },
                {
                    "name": "sfl-PB",
                    "type": "synonym"
                },
                {
                    "name": "sulfateless, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "sulfateless",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sfl",
                    "type": "recommended"
                },
                {
                    "name": "CG8339",
                    "type": "synonym"
                },
                {
                    "name": "CT24567",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8339",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8339",
                    "type": "synonym"
                },
                {
                    "name": "NDST",
                    "type": "synonym"
                },
                {
                    "name": "Ndst",
                    "type": "synonym"
                },
                {
                    "name": "SFL",
                    "type": "synonym"
                },
                {
                    "name": "Sfl",
                    "type": "synonym"
                },
                {
                    "name": "dw",
                    "type": "synonym"
                },
                {
                    "name": "l(3)03844",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.S4253",
                    "type": "synonym"
                },
                {
                    "name": "sfl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3L1-1",
            "evidence": [
                {
                    "id": "0081210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081210"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081210"
}