{
    "disease_id": "DOID:0061047",
    "recommended_name": {
        "id": "DOID:0061047",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061047",
        "name": "autosomal dominant intellectual developmental disorder 74",
        "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0958203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958203",
            "name": "intellectual developmental disorder, autosomal dominant 74",
            "description": ""
        },
        {
            "id": "MIM:620688",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620688",
            "name": "Intellectual developmental disorder, autosomal dominant 74",
            "description": "Intellectual developmental disorder, autosomal dominant 74"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061047"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061047",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061047",
            "categories": []
        },
        {
            "id": "MONDO:0958203",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958203",
            "categories": []
        },
        {
            "id": "MIM:620688",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620688",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PNP7-1",
            "uniprot_ac": "A0A8M9PNP7",
            "uniprot_id": "A0A8M9PNP7_DANRE",
            "refseq_ac": "XP_021333117",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoproteins C1/C2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoproteins C1/C2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hnrnpcb",
                    "type": "recommended"
                },
                {
                    "name": "zgc:55733",
                    "type": "recommended"
                },
                {
                    "name": "Hnrpc",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55733",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PNP7-1",
            "evidence": [
                {
                    "id": "0061047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32TXW0-1",
            "uniprot_ac": "A0AB32TXW0",
            "uniprot_id": "A0AB32TXW0_DANRE",
            "refseq_ac": "XP_068079689",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoproteins C1/C2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoproteins C1/C2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hnrnpca",
                    "type": "recommended"
                },
                {
                    "name": "bZ1G18.4",
                    "type": "synonym"
                },
                {
                    "name": "fb57h12",
                    "type": "synonym"
                },
                {
                    "name": "fi16b11",
                    "type": "synonym"
                },
                {
                    "name": "hnrnpc",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb57h12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi16b11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55701",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TXW0-1",
            "evidence": [
                {
                    "id": "0061047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z204-1",
            "uniprot_ac": "Q9Z204",
            "uniprot_id": "HNRPC_MOUSE",
            "refseq_ac": "NP_001164452",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoproteins C1/C2",
                    "type": "recommended"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein C1",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein C2",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoproteins C1/C2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoproteins C1/C2",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous ribonucleoprotein C1/C2",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP C1 / hnRNP C2",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP C1/C2",
                    "type": "synonym"
                },
                {
                    "name": "snoRNA MBI-122",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hnrnpc",
                    "type": "recommended"
                },
                {
                    "name": "D14Wsu171e",
                    "type": "synonym"
                },
                {
                    "name": "Hnrnpc",
                    "type": "synonym"
                },
                {
                    "name": "Hnrpc1",
                    "type": "synonym"
                },
                {
                    "name": "Hnrpc2",
                    "type": "synonym"
                },
                {
                    "name": "Hnrpc",
                    "type": "synonym"
                },
                {
                    "name": "hnRNPC1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNPC2",
                    "type": "synonym"
                },
                {
                    "name": "hnrnp-C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z204-1",
            "evidence": [
                {
                    "id": "0061047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07910-1",
            "uniprot_ac": "P07910",
            "uniprot_id": "HNRPC_HUMAN",
            "refseq_ac": "NP_001070910",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoproteins C1/C2",
                    "type": "recommended"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein C (C1/C2)",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoproteins C1/C2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP C1/C2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear ribonucleoprotein particle C1 protein",
                    "type": "synonym"
                },
                {
                    "name": "nuclear ribonucleoprotein particle C2 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HNRNPC",
                    "type": "recommended"
                },
                {
                    "name": "HNRNPC",
                    "type": "synonym"
                },
                {
                    "name": "HNRNP",
                    "type": "synonym"
                },
                {
                    "name": "HNRPC",
                    "type": "synonym"
                },
                {
                    "name": "MRD74",
                    "type": "synonym"
                },
                {
                    "name": "SNRPC",
                    "type": "synonym"
                }
            ],
            "record_id": "P07910-1",
            "evidence": [
                {
                    "id": "620688",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620688"
                },
                {
                    "id": "0061047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38996-1",
            "uniprot_ac": "P38996",
            "uniprot_id": "NAB3_YEAST",
            "refseq_ac": "NP_015134",
            "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": "Nuclear polyadenylated RNA-binding protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Nab3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NAB3",
                    "type": "recommended"
                },
                {
                    "name": "HMD1",
                    "type": "synonym"
                },
                {
                    "name": "NAB3",
                    "type": "synonym"
                }
            ],
            "record_id": "P38996-1",
            "evidence": [
                {
                    "id": "0061047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V9R8-1",
            "uniprot_ac": "G3V9R8",
            "uniprot_id": "HNRPC_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein C",
                    "type": "recommended"
                },
                {
                    "name": "hnRNP C",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP core protein C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hnrnpc",
                    "type": "recommended"
                },
                {
                    "name": "Hnrpc",
                    "type": "synonym"
                },
                {
                    "name": "LOC100911576",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V9R8-1",
            "evidence": [
                {
                    "id": "0061047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KU81-1",
            "uniprot_ac": "Q7KU81",
            "uniprot_id": "Q7KU81_DROME",
            "refseq_ac": "NP_996010",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "RRM domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG42458-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG18656",
                    "type": "recommended"
                },
                {
                    "name": "CG18656",
                    "type": "synonym"
                },
                {
                    "name": "CG33277",
                    "type": "synonym"
                },
                {
                    "name": "CG33279",
                    "type": "synonym"
                },
                {
                    "name": "CG42458",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42458",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42458",
                    "type": "synonym"
                },
                {
                    "name": "HNPNPC",
                    "type": "synonym"
                },
                {
                    "name": "cg18656",
                    "type": "synonym"
                },
                {
                    "name": "cg42458",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KU81-1",
            "evidence": [
                {
                    "id": "0061047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061047"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061047"
}