{
    "disease_id": "DOID:0081217",
    "recommended_name": {
        "id": "DOID:0081217",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081217",
        "name": "autosomal recessive intellectual developmental disorder 56",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZC3H14 gene on chromosome 14q31."
    },
    "synonyms": [
        {
            "id": "MONDO:0014930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014930",
            "name": "intellectual disability, autosomal recessive 56",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene."
        },
        {
            "id": "MONDO:0014930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014930",
            "name": "MRT56",
            "description": ""
        },
        {
            "id": "MONDO:0014930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014930",
            "name": "ZC3H14 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014930",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14",
            "description": ""
        },
        {
            "id": "MONDO:0014930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014930",
            "name": "intellectual developmental disorder, autosomal recessive 56",
            "description": ""
        },
        {
            "id": "MONDO:0014930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014930",
            "name": "intellectual disability, autosomal recessive 56",
            "description": ""
        },
        {
            "id": "MONDO:0014930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014930",
            "name": "intellectual disability, autosomal recessive type 56",
            "description": ""
        },
        {
            "id": "MONDO:0014930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014930",
            "name": "mental retardation, autosomal recessive 56",
            "description": ""
        },
        {
            "id": "MONDO:0014930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014930",
            "name": "mental retardation, autosomal recessive type 56",
            "description": ""
        },
        {
            "id": "MIM:617125",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617125",
            "name": "Intellectual developmental disorder, autosomal recessive 56",
            "description": "Intellectual developmental disorder, autosomal recessive 56"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081217"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081217",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081217",
            "categories": []
        },
        {
            "id": "MONDO:0014930",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014930",
            "categories": []
        },
        {
            "id": "MIM:617125",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617125",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5TYQ8-1",
            "uniprot_ac": "Q5TYQ8",
            "uniprot_id": "ZC3HE_DANRE",
            "refseq_ac": "NP_001020695",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger CCCH domain-containing protein 14",
                    "type": "recommended"
                },
                {
                    "name": "zinc finger CCCH domain-containing protein 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zc3h14",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-199i12.4",
                    "type": "synonym"
                },
                {
                    "name": "zc3h14",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136266",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TYQ8-1",
            "evidence": [
                {
                    "id": "0081217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BJ05-1",
            "uniprot_ac": "Q8BJ05",
            "uniprot_id": "ZC3HE_MOUSE",
            "refseq_ac": "NP_001008506",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger CCCH domain-containing protein 14",
                    "type": "recommended"
                },
                {
                    "name": "zinc finger CCCH domain-containing protein 14 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger CCCH domain-containing protein 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zc3h14",
                    "type": "recommended"
                },
                {
                    "name": "1010001P15Rik",
                    "type": "synonym"
                },
                {
                    "name": "1700016A15Rik",
                    "type": "synonym"
                },
                {
                    "name": "2700069A02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Zc3h14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BJ05-1",
            "evidence": [
                {
                    "id": "0081217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PJT7-1",
            "uniprot_ac": "Q6PJT7",
            "uniprot_id": "ZC3HE_HUMAN",
            "refseq_ac": "NP_001153575",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger CCCH domain-containing protein 14",
                    "type": "recommended"
                },
                {
                    "name": "MSUT-2",
                    "type": "synonym"
                },
                {
                    "name": "Mammalian suppressor of tau pathology-2",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-37",
                    "type": "synonym"
                },
                {
                    "name": "mammalian suppressor of tau pathology-2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear protein UKp68",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-37",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger CCCH domain-containing protein 14 isoform 5",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger CCCH domain-containing protein 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZC3H14",
                    "type": "recommended"
                },
                {
                    "name": "MRT56",
                    "type": "synonym"
                },
                {
                    "name": "MSUT-2",
                    "type": "synonym"
                },
                {
                    "name": "NY-REN-37",
                    "type": "synonym"
                },
                {
                    "name": "SUT2",
                    "type": "synonym"
                },
                {
                    "name": "UKp68",
                    "type": "synonym"
                },
                {
                    "name": "ZC3H14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PJT7-1",
            "evidence": [
                {
                    "id": "617125",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617125"
                },
                {
                    "id": "0081217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32505-1",
            "uniprot_ac": "P32505",
            "uniprot_id": "NAB2_YEAST",
            "refseq_ac": "NP_011393",
            "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": "Nuclear polyadenylated RNA-binding protein NAB2",
                    "type": "recommended"
                },
                {
                    "name": "mRNA-binding protein NAB2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NAB2",
                    "type": "recommended"
                },
                {
                    "name": "NAB2",
                    "type": "synonym"
                }
            ],
            "record_id": "P32505-1",
            "evidence": [
                {
                    "id": "0081217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TMD5-1",
            "uniprot_ac": "Q7TMD5",
            "uniprot_id": "ZC3HE_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": "Zinc finger CCCH domain-containing protein 14",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear protein UKp83/UKp68",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zc3h14",
                    "type": "recommended"
                },
                {
                    "name": "Npuk68",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TMD5-1",
            "evidence": [
                {
                    "id": "0081217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3H9-1",
            "uniprot_ac": "Q9V3H9",
            "uniprot_id": "Q9V3H9_DROME",
            "refseq_ac": "NP_651243",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger CCCH domain-containing protein 14",
                    "type": "recommended"
                },
                {
                    "name": "CG5720-PA",
                    "type": "synonym"
                },
                {
                    "name": "Nab2-PA",
                    "type": "synonym"
                },
                {
                    "name": "nuclear polyadenosine RNA-binding 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear polyadenylated RNA-binding 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nab2",
                    "type": "recommended"
                },
                {
                    "name": "BEST:GH27517",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LD27873",
                    "type": "synonym"
                },
                {
                    "name": "CG5720",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5720",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5720",
                    "type": "synonym"
                },
                {
                    "name": "DnAB2",
                    "type": "synonym"
                },
                {
                    "name": "Nab2",
                    "type": "synonym"
                },
                {
                    "name": "RE28534",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-1.43",
                    "type": "synonym"
                },
                {
                    "name": "clone 1.43",
                    "type": "synonym"
                },
                {
                    "name": "dNab2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3H9-1",
            "evidence": [
                {
                    "id": "0081217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081217"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081217"
}