{
    "disease_id": "DOID:0070587",
    "recommended_name": {
        "id": "DOID:0070587",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070587",
        "name": "spermatogenic failure 88",
        "description": "A spermatogenic failure characterized by nonobstructive azoospermia due to prepachytene meiotic arrest of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13.33."
    },
    "synonyms": [
        {
            "id": "DOID:0070587",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070587",
            "name": "SPGF88",
            "description": ""
        },
        {
            "id": "MONDO:0957821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957821",
            "name": "spermatogenic failure 88",
            "description": ""
        },
        {
            "id": "MIM:620547",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620547",
            "name": "Spermatogenic failure 88",
            "description": "Spermatogenic failure 88"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070587"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070587",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070587",
            "categories": []
        },
        {
            "id": "MONDO:0957821",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957821",
            "categories": []
        },
        {
            "id": "MIM:620547",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620547",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q80VJ8-1",
            "uniprot_ac": "Q80VJ8",
            "uniprot_id": "KASH5_MOUSE",
            "refseq_ac": "NP_958762",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein KASH5",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 155",
                    "type": "synonym"
                },
                {
                    "name": "KASH domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 155",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 155",
                    "type": "synonym"
                },
                {
                    "name": "protein KASH5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kash5",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc155",
                    "type": "synonym"
                },
                {
                    "name": "Gm1434",
                    "type": "synonym"
                },
                {
                    "name": "Kash5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80VJ8-1",
            "evidence": [
                {
                    "id": "0070587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070587"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N6L0-1",
            "uniprot_ac": "Q8N6L0",
            "uniprot_id": "KASH5_HUMAN",
            "refseq_ac": "NP_653289",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein KASH5",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 155",
                    "type": "synonym"
                },
                {
                    "name": "KASH domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 155",
                    "type": "synonym"
                },
                {
                    "name": "protein KASH5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KASH5",
                    "type": "recommended"
                },
                {
                    "name": "CCDC155",
                    "type": "synonym"
                },
                {
                    "name": "KASH5",
                    "type": "synonym"
                },
                {
                    "name": "POF22",
                    "type": "synonym"
                },
                {
                    "name": "SPGF88",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N6L0-1",
            "evidence": [
                {
                    "id": "620547",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620547"
                },
                {
                    "id": "0070587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070587"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LKL2-1",
            "uniprot_ac": "A0ABK0LKL2",
            "uniprot_id": "A0ABK0LKL2_RAT",
            "refseq_ac": "NP_001419168",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "KASH domain containing 5 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "KASH domain containing 5",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 155, pseudogene 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kash5",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc155-ps1",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc155",
                    "type": "synonym"
                },
                {
                    "name": "Kash5",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561972",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LKL2-1",
            "evidence": [
                {
                    "id": "0070587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070587"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070587"
}