{
    "disease_id": "DOID:0080473",
    "recommended_name": {
        "id": "DOID:0080473",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080473",
        "name": "developmental delay and seizures with or without movement abnormalities",
        "description": "A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "MONDO:0044326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044326",
            "name": "developmental delay and seizures with or without movement abnormalities",
            "description": "DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017})."
        },
        {
            "id": "MONDO:0044326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044326",
            "name": "developmental delay and seizures with or without movement abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0044326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044326",
            "name": "DEDSM",
            "description": ""
        },
        {
            "id": "MIM:617836",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617836",
            "name": "Developmental delay and seizures with or without movement abnormalities",
            "description": "Developmental delay and seizures with or without movement abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080473"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080473",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080473",
            "categories": []
        },
        {
            "id": "MONDO:0044326",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044326",
            "categories": []
        },
        {
            "id": "MIM:617836",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617836",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99KU1-1",
            "uniprot_ac": "Q99KU1",
            "uniprot_id": "DHDDS_MOUSE",
            "refseq_ac": "NP_080420",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dehydrodolichyl diphosphate synthase complex subunit Dhdds",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.87",
                    "type": "synonym"
                },
                {
                    "name": "CIT",
                    "type": "synonym"
                },
                {
                    "name": "Cis-IPTase",
                    "type": "synonym"
                },
                {
                    "name": "Cis-isoprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "cis-isoprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dedol-PP synthase",
                    "type": "synonym"
                },
                {
                    "name": "dehydrodolichyl diphosphate synthase complex subunit Dhdds isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dehydrodolichyl diphosphate synthase complex subunit Dhdds",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhdds",
                    "type": "recommended"
                },
                {
                    "name": "3222401G21Rik",
                    "type": "synonym"
                },
                {
                    "name": "CIT",
                    "type": "synonym"
                },
                {
                    "name": "DS",
                    "type": "synonym"
                },
                {
                    "name": "Dhdds",
                    "type": "synonym"
                },
                {
                    "name": "HDS",
                    "type": "synonym"
                },
                {
                    "name": "cis-IPTase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99KU1-1",
            "evidence": [
                {
                    "id": "0080473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86SQ9-1",
            "uniprot_ac": "Q86SQ9",
            "uniprot_id": "DHDDS_HUMAN",
            "refseq_ac": "NP_001230493",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dehydrodolichyl diphosphate synthase complex subunit DHDDS",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.87",
                    "type": "synonym"
                },
                {
                    "name": "CIT",
                    "type": "synonym"
                },
                {
                    "name": "Cis-IPTase",
                    "type": "synonym"
                },
                {
                    "name": "Cis-isoprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Cis-prenyltransferase subunit hCIT",
                    "type": "synonym"
                },
                {
                    "name": "Epididymis tissue protein Li 189m",
                    "type": "synonym"
                },
                {
                    "name": "cis-IPTase",
                    "type": "synonym"
                },
                {
                    "name": "cis-isoprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "cis-prenyl transferase",
                    "type": "synonym"
                },
                {
                    "name": "cis-prenyltransferase subunit hCIT",
                    "type": "synonym"
                },
                {
                    "name": "dedol-PP synthase",
                    "type": "synonym"
                },
                {
                    "name": "dehydrodolichyl diphosphate syntase complex subunit DHDDS",
                    "type": "synonym"
                },
                {
                    "name": "dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "dehydrodolichyl diphosphate synthase complex subunit DHDDS",
                    "type": "synonym"
                },
                {
                    "name": "epididymis tissue protein Li 189m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DHDDS",
                    "type": "recommended"
                },
                {
                    "name": "CIT",
                    "type": "synonym"
                },
                {
                    "name": "CPT",
                    "type": "synonym"
                },
                {
                    "name": "DEDSM",
                    "type": "synonym"
                },
                {
                    "name": "DHDDS",
                    "type": "synonym"
                },
                {
                    "name": "DS",
                    "type": "synonym"
                },
                {
                    "name": "HDS",
                    "type": "synonym"
                },
                {
                    "name": "RP59",
                    "type": "synonym"
                },
                {
                    "name": "hCIT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86SQ9-1",
            "evidence": [
                {
                    "id": "617836",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617836"
                },
                {
                    "id": "0080473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03175-1",
            "uniprot_ac": "Q03175",
            "uniprot_id": "SRT1_YEAST",
            "refseq_ac": "NP_013819",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dehydrodolichyl diphosphate synthase complex subunit SRT1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.87",
                    "type": "synonym"
                },
                {
                    "name": "Ditrans,polycis-polyprenyl diphosphate synthase ((2E,6E)-farnesyl diphosphate specific)",
                    "type": "synonym"
                },
                {
                    "name": "ditrans,polycis-polyprenyl diphosphate synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SRT1",
                    "type": "recommended"
                },
                {
                    "name": "SRT1",
                    "type": "synonym"
                },
                {
                    "name": "YM6543.08C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03175-1",
            "evidence": [
                {
                    "id": "0080473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35196-1",
            "uniprot_ac": "P35196",
            "uniprot_id": "RER2_YEAST",
            "refseq_ac": "NP_009556",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dehydrodolichyl diphosphate synthase complex subunit RER2",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.87",
                    "type": "synonym"
                },
                {
                    "name": "DEDOL-PP synthase",
                    "type": "synonym"
                },
                {
                    "name": "Ditrans,polycis-polyprenyl diphosphate synthase ((2E,6E)-farnesyl diphosphate specific)",
                    "type": "synonym"
                },
                {
                    "name": "ditrans,polycis-polyprenyl diphosphate synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RER2",
                    "type": "recommended"
                },
                {
                    "name": "RER2",
                    "type": "synonym"
                },
                {
                    "name": "YBR0107",
                    "type": "synonym"
                }
            ],
            "record_id": "P35196-1",
            "evidence": [
                {
                    "id": "0080473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U2T2-1",
            "uniprot_ac": "Q5U2T2",
            "uniprot_id": "Q5U2T2_RAT",
            "refseq_ac": "XP_063143515",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alkyl transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhdds",
                    "type": "recommended"
                },
                {
                    "name": "Dhdds",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U2T2-1",
            "evidence": [
                {
                    "id": "0080473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3M6-1",
            "uniprot_ac": "Q9W3M6",
            "uniprot_id": "Q9W3M6_DROME",
            "refseq_ac": "NP_001259316",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alkyl transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG10778-PB",
                    "type": "synonym"
                },
                {
                    "name": "Dhdds-PB",
                    "type": "synonym"
                },
                {
                    "name": "dehydrodolichyl diphosphate synthase subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "dehydrodolichyl diphosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "prenyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhdds",
                    "type": "recommended"
                },
                {
                    "name": "CG10778",
                    "type": "synonym"
                },
                {
                    "name": "DHDDS",
                    "type": "synonym"
                },
                {
                    "name": "Dhdds",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10778",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10778",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3M6-1",
            "evidence": [
                {
                    "id": "0080473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080473"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080473"
}