{
    "disease_id": "DOID:0070577",
    "recommended_name": {
        "id": "DOID:0070577",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070577",
        "name": "spermatogenic failure 78",
        "description": "A spermatogenic failure characterized by sperm with abnormal acrosome structure due to a manchette assembly defect that has_material_basis_in homozygous mutation in the IQCN gene on chromosome 19p13.11."
    },
    "synonyms": [
        {
            "id": "DOID:0070577",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070577",
            "name": "SPGF78",
            "description": ""
        },
        {
            "id": "MONDO:0859338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859338",
            "name": "spermatogenic failure 78",
            "description": ""
        },
        {
            "id": "MIM:620170",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620170",
            "name": "Spermatogenic failure 78",
            "description": "Spermatogenic failure 78"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070577"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070577",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070577",
            "categories": []
        },
        {
            "id": "MONDO:0859338",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859338",
            "categories": []
        },
        {
            "id": "MIM:620170",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620170",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A1D5RMD1-1",
            "uniprot_ac": "A0A1D5RMD1",
            "uniprot_id": "IQCN_MOUSE",
            "refseq_ac": "NP_001357775",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "IQ domain-containing protein N",
                    "type": "recommended"
                },
                {
                    "name": "IQ domain-containing protein N",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Iqcn",
                    "type": "recommended"
                },
                {
                    "name": "Gm16486",
                    "type": "synonym"
                },
                {
                    "name": "Iqcn",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A1D5RMD1-1",
            "evidence": [
                {
                    "id": "0070577",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070577"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H0B3-1",
            "uniprot_ac": "Q9H0B3",
            "uniprot_id": "IQCN_HUMAN",
            "refseq_ac": "NP_001138776",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "IQ domain-containing protein N",
                    "type": "recommended"
                },
                {
                    "name": "IQ domain-containing protein N isoform a",
                    "type": "synonym"
                },
                {
                    "name": "IQ domain-containing protein N",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IQCN",
                    "type": "recommended"
                },
                {
                    "name": "IQCN",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1683",
                    "type": "synonym"
                },
                {
                    "name": "SPGF78",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H0B3-1",
            "evidence": [
                {
                    "id": "620170",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620170"
                },
                {
                    "id": "0070577",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070577"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GGC3-1",
            "uniprot_ac": "A0A8I6GGC3",
            "uniprot_id": "A0A8I6GGC3_RAT",
            "refseq_ac": "NP_001386366",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "IQ domain-containing protein N",
                    "type": "recommended"
                },
                {
                    "name": "IQ domain-containing protein N",
                    "type": "synonym"
                },
                {
                    "name": "mucin-17-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Iqcn",
                    "type": "recommended"
                },
                {
                    "name": "Iqcn",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GGC3-1",
            "evidence": [
                {
                    "id": "0070577",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070577"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070577"
}