{
    "disease_id": "DOID:0081188",
    "recommended_name": {
        "id": "DOID:0081188",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081188",
        "name": "autosomal recessive intellectual developmental disorder 14",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0013528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013528",
            "name": "intellectual disability, autosomal recessive 14",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene."
        },
        {
            "id": "MONDO:0013528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013528",
            "name": "TECR autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013528",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in TECR",
            "description": ""
        },
        {
            "id": "MONDO:0013528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013528",
            "name": "intellectual disability, autosomal recessive 14",
            "description": ""
        },
        {
            "id": "MONDO:0013528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013528",
            "name": "intellectual disability, autosomal recessive type 14",
            "description": ""
        },
        {
            "id": "MONDO:0013528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013528",
            "name": "mental retardation, autosomal recessive type 14",
            "description": ""
        },
        {
            "id": "MONDO:0013528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013528",
            "name": "MRT14",
            "description": ""
        },
        {
            "id": "MONDO:0013528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013528",
            "name": "mental retardation, autosomal recessive 14",
            "description": ""
        },
        {
            "id": "MIM:614020",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614020",
            "name": "Intellectual developmental disorder, autosomal recessive 14",
            "description": "Intellectual developmental disorder, autosomal recessive 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081188"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081188",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081188",
            "categories": []
        },
        {
            "id": "MONDO:0013528",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013528",
            "categories": []
        },
        {
            "id": "MIM:614020",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614020",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7S4-1",
            "uniprot_ac": "A0ACD6B7S4",
            "uniprot_id": "A0ACD6B7S4_DANRE",
            "refseq_ac": "XP_001921351",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Very-long-chain enoyl-CoA reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.93",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic glycoprotein SC2",
                    "type": "synonym"
                },
                {
                    "name": "Trans-2,3-enoyl-CoA reductase",
                    "type": "synonym"
                },
                {
                    "name": "very-long-chain enoyl-CoA reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tecra",
                    "type": "recommended"
                },
                {
                    "name": "tecra",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7S4-1",
            "evidence": [
                {
                    "id": "0081188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081188"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CY27-1",
            "uniprot_ac": "Q9CY27",
            "uniprot_id": "TECR_MOUSE",
            "refseq_ac": "NP_081455",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Very-long-chain enoyl-CoA reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.93",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic glycoprotein SC2",
                    "type": "synonym"
                },
                {
                    "name": "TER",
                    "type": "synonym"
                },
                {
                    "name": "Trans-2,3-enoyl-CoA reductase",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein, synaptic 2",
                    "type": "synonym"
                },
                {
                    "name": "synaptic glycoprotein SC2",
                    "type": "synonym"
                },
                {
                    "name": "very-long-chain enoyl-CoA reductase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "very-long-chain enoyl-CoA reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tecr",
                    "type": "recommended"
                },
                {
                    "name": "2410016D23Rik",
                    "type": "synonym"
                },
                {
                    "name": "A230102P12Rik",
                    "type": "synonym"
                },
                {
                    "name": "D17Ertd178e",
                    "type": "synonym"
                },
                {
                    "name": "Gpsn2",
                    "type": "synonym"
                },
                {
                    "name": "SC2",
                    "type": "synonym"
                },
                {
                    "name": "Tecr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CY27-1",
            "evidence": [
                {
                    "id": "0081188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081188"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NZ01-1",
            "uniprot_ac": "Q9NZ01",
            "uniprot_id": "TECR_HUMAN",
            "refseq_ac": "NP_001308099",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Very-long-chain enoyl-CoA reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.93",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic glycoprotein SC2",
                    "type": "synonym"
                },
                {
                    "name": "TER",
                    "type": "synonym"
                },
                {
                    "name": "Trans-2,3-enoyl-CoA reductase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein, synaptic 2",
                    "type": "synonym"
                },
                {
                    "name": "synaptic glycoprotein SC2",
                    "type": "synonym"
                },
                {
                    "name": "very-long-chain enoyl-CoA reductase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "very-long-chain enoyl-CoA reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TECR",
                    "type": "recommended"
                },
                {
                    "name": "GPSN2",
                    "type": "synonym"
                },
                {
                    "name": "MRT14",
                    "type": "synonym"
                },
                {
                    "name": "SC2",
                    "type": "synonym"
                },
                {
                    "name": "TECR",
                    "type": "synonym"
                },
                {
                    "name": "TER",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NZ01-1",
            "evidence": [
                {
                    "id": "614020",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614020"
                },
                {
                    "id": "0081188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081188"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99190-1",
            "uniprot_ac": "Q99190",
            "uniprot_id": "TECR_YEAST",
            "refseq_ac": "NP_010269",
            "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": "Very-long-chain enoyl-CoA reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.93",
                    "type": "synonym"
                },
                {
                    "name": "Enoyl reductase TSC13",
                    "type": "synonym"
                },
                {
                    "name": "Temperature-sensitive CSG2 suppressor protein 13",
                    "type": "synonym"
                },
                {
                    "name": "Trans-2-enoyl-CoA reductase",
                    "type": "synonym"
                },
                {
                    "name": "trans-2-enoyl-CoA reductase (NADPH) TSC13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSC13",
                    "type": "recommended"
                },
                {
                    "name": "D2865",
                    "type": "synonym"
                },
                {
                    "name": "TSC13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99190-1",
            "evidence": [
                {
                    "id": "0081188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081188"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64232-1",
            "uniprot_ac": "Q64232",
            "uniprot_id": "TECR_RAT",
            "refseq_ac": "NP_612558",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Very-long-chain enoyl-CoA reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.93",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic glycoprotein SC2",
                    "type": "synonym"
                },
                {
                    "name": "TER",
                    "type": "synonym"
                },
                {
                    "name": "Trans-2,3-enoyl-CoA reductase",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein, synaptic 2",
                    "type": "synonym"
                },
                {
                    "name": "neuroprotective protein 13",
                    "type": "synonym"
                },
                {
                    "name": "synaptic glycoprotein SC2",
                    "type": "synonym"
                },
                {
                    "name": "very-long-chain enoyl-CoA reductase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "very-long-chain enoyl-CoA reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tecr",
                    "type": "recommended"
                },
                {
                    "name": "Gpsn2",
                    "type": "synonym"
                },
                {
                    "name": "SC2",
                    "type": "synonym"
                },
                {
                    "name": "Tecrl2",
                    "type": "synonym"
                },
                {
                    "name": "Tecr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64232-1",
            "evidence": [
                {
                    "id": "0081188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081188"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZL3-1",
            "uniprot_ac": "Q9VZL3",
            "uniprot_id": "Q9VZL3_DROME",
            "refseq_ac": "NP_647836",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "very-long-chain enoyl-CoA reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.93",
                    "type": "synonym"
                },
                {
                    "name": "CG10849-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sc2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sc2",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-63E",
                    "type": "synonym"
                },
                {
                    "name": "lethal(3)63Eb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tecr",
                    "type": "recommended"
                },
                {
                    "name": "CG10849",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10849",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10849",
                    "type": "synonym"
                },
                {
                    "name": "SC2",
                    "type": "synonym"
                },
                {
                    "name": "Sc2",
                    "type": "synonym"
                },
                {
                    "name": "Ter[CG10849]",
                    "type": "synonym"
                },
                {
                    "name": "dSc2",
                    "type": "synonym"
                },
                {
                    "name": "l(3)05634",
                    "type": "synonym"
                },
                {
                    "name": "l(3)63Eb",
                    "type": "synonym"
                },
                {
                    "name": "l(3)SH4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZL3-1",
            "evidence": [
                {
                    "id": "0081188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081188"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081188"
}