{
    "disease_id": "DOID:0070731",
    "recommended_name": {
        "id": "DOID:0070731",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070731",
        "name": "spermatogenic failure 102",
        "description": "A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia with sperm in reduced concentration that are immotile due to multiple morphologic abnormalities of the flagella, including absent, short, coiled, and irregular-caliber flagella that has_material_basis_in homozygous mutation in the CFAP206 gene on chromosome 6q15."
    },
    "synonyms": [
        {
            "id": "DOID:0070731",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070731",
            "name": "SPGF102",
            "description": ""
        },
        {
            "id": "MONDO:0980708",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980708",
            "name": "spermatogenic failure 102",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070731"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070731",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070731",
            "categories": []
        },
        {
            "id": "MONDO:0980708",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980708",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8IYR0-1",
            "uniprot_ac": "Q8IYR0",
            "uniprot_id": "CF206_HUMAN",
            "refseq_ac": "NP_001026913",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 206",
                    "type": "recommended"
                },
                {
                    "name": "UPF0704 protein C6orf165",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 206",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP206",
                    "type": "recommended"
                },
                {
                    "name": "C6orf165",
                    "type": "synonym"
                },
                {
                    "name": "CFAP206",
                    "type": "synonym"
                },
                {
                    "name": "SPGF102",
                    "type": "synonym"
                },
                {
                    "name": "dJ382I10.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IYR0-1",
            "evidence": [
                {
                    "id": "621387",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621387"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070731"
}