{
    "disease_id": "DOID:0081213",
    "recommended_name": {
        "id": "DOID:0081213",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081213",
        "name": "autosomal recessive intellectual developmental disorder 50",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0014649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014649",
            "name": "intellectual disability, autosomal recessive 50",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene."
        },
        {
            "id": "MONDO:0014649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014649",
            "name": "EDC3 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014649",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3",
            "description": ""
        },
        {
            "id": "MONDO:0014649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014649",
            "name": "intellectual developmental disorder, autosomal recessive 50",
            "description": ""
        },
        {
            "id": "MONDO:0014649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014649",
            "name": "intellectual disability, autosomal recessive 50",
            "description": ""
        },
        {
            "id": "MONDO:0014649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014649",
            "name": "intellectual disability, autosomal recessive type 50",
            "description": ""
        },
        {
            "id": "MONDO:0014649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014649",
            "name": "mental retardation, autosomal recessive type 50",
            "description": ""
        },
        {
            "id": "MONDO:0014649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014649",
            "name": "MRT50",
            "description": ""
        },
        {
            "id": "MONDO:0014649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014649",
            "name": "mental retardation, autosomal recessive 50",
            "description": ""
        },
        {
            "id": "MIM:616460",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616460",
            "name": "Intellectual developmental disorder, autosomal recessive 50",
            "description": "Intellectual developmental disorder, autosomal recessive 50"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081213"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081213",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081213",
            "categories": []
        },
        {
            "id": "MONDO:0014649",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014649",
            "categories": []
        },
        {
            "id": "MIM:616460",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616460",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q502M5-1",
            "uniprot_ac": "Q502M5",
            "uniprot_id": "EDC3_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enhancer of mRNA-decapping protein 3",
                    "type": "recommended"
                },
                {
                    "name": "LSM16 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "YjeF domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "edc3",
                    "type": "recommended"
                },
                {
                    "name": "im:7151288",
                    "type": "synonym"
                },
                {
                    "name": "lsm16",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb82d07",
                    "type": "synonym"
                },
                {
                    "name": "yjdc",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112006",
                    "type": "synonym"
                }
            ],
            "record_id": "Q502M5-1",
            "evidence": [
                {
                    "id": "0081213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081213"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K2D3-1",
            "uniprot_ac": "Q8K2D3",
            "uniprot_id": "EDC3_MOUSE",
            "refseq_ac": "NP_722494",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enhancer of mRNA-decapping protein 3",
                    "type": "recommended"
                },
                {
                    "name": "YjeF domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of mRNA decapping 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of mRNA-decapping protein 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of mRNA-decapping protein 3",
                    "type": "synonym"
                },
                {
                    "name": "yjeF domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Edc3",
                    "type": "recommended"
                },
                {
                    "name": "Edc3",
                    "type": "synonym"
                },
                {
                    "name": "Lsm16",
                    "type": "synonym"
                },
                {
                    "name": "Yjdc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K2D3-1",
            "evidence": [
                {
                    "id": "0081213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081213"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96F86-1",
            "uniprot_ac": "Q96F86",
            "uniprot_id": "EDC3_HUMAN",
            "refseq_ac": "NP_001135915",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enhancer of mRNA-decapping protein 3",
                    "type": "recommended"
                },
                {
                    "name": "LSM16 homolog (EDC3, S. cerevisiae)",
                    "type": "synonym"
                },
                {
                    "name": "LSM16 homolog",
                    "type": "synonym"
                },
                {
                    "name": "YjeF N-terminal domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "YjeF domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "YjeF_N2",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of mRNA decapping 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of mRNA-decapping protein 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of mRNA-decapping protein 3",
                    "type": "synonym"
                },
                {
                    "name": "hYjeF_N2",
                    "type": "synonym"
                },
                {
                    "name": "yjeF N-terminal domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "yjeF domain containing",
                    "type": "synonym"
                },
                {
                    "name": "yjeF domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EDC3",
                    "type": "recommended"
                },
                {
                    "name": "EDC3",
                    "type": "synonym"
                },
                {
                    "name": "LSM16",
                    "type": "synonym"
                },
                {
                    "name": "MRT50",
                    "type": "synonym"
                },
                {
                    "name": "PP844",
                    "type": "synonym"
                },
                {
                    "name": "YJDC",
                    "type": "synonym"
                },
                {
                    "name": "YJEFN2",
                    "type": "synonym"
                },
                {
                    "name": "hYjeF_N2-15q23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96F86-1",
            "evidence": [
                {
                    "id": "616460",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616460"
                },
                {
                    "id": "0081213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081213"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39998-1",
            "uniprot_ac": "P39998",
            "uniprot_id": "EDC3_YEAST",
            "refseq_ac": "NP_010901",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enhancer of mRNA-decapping protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Edc3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EDC3",
                    "type": "recommended"
                },
                {
                    "name": "DCP3",
                    "type": "synonym"
                },
                {
                    "name": "EDC3",
                    "type": "synonym"
                },
                {
                    "name": "LSM16",
                    "type": "synonym"
                }
            ],
            "record_id": "P39998-1",
            "evidence": [
                {
                    "id": "0081213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081213"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M7Z1-1",
            "uniprot_ac": "F1M7Z1",
            "uniprot_id": "F1M7Z1_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": "Enhancer of mRNA-decapping protein 3",
                    "type": "recommended"
                },
                {
                    "name": "YjeF domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Edc3",
                    "type": "recommended"
                }
            ],
            "record_id": "F1M7Z1-1",
            "evidence": [
                {
                    "id": "0081213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081213"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVI2-1",
            "uniprot_ac": "Q9VVI2",
            "uniprot_id": "EDC3_DROME",
            "refseq_ac": "NP_648992",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enhancer of mRNA-decapping protein 3",
                    "type": "recommended"
                },
                {
                    "name": "CG6311-PB",
                    "type": "synonym"
                },
                {
                    "name": "Edc3-PB",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of decapping 3",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of decapping-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Edc3",
                    "type": "recommended"
                },
                {
                    "name": "CG6311",
                    "type": "synonym"
                },
                {
                    "name": "DmEDC3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6311",
                    "type": "synonym"
                },
                {
                    "name": "EDC3",
                    "type": "synonym"
                },
                {
                    "name": "Edc3",
                    "type": "synonym"
                },
                {
                    "name": "LSM16",
                    "type": "synonym"
                },
                {
                    "name": "LSm16",
                    "type": "synonym"
                },
                {
                    "name": "Lsm16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVI2-1",
            "evidence": [
                {
                    "id": "0081213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081213"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081213"
}