{
    "disease_id": "DOID:0070726",
    "recommended_name": {
        "id": "DOID:0070726",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070726",
        "name": "spermatogenic failure 97",
        "description": "A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia with sperm that are immotile due to multiple morphologic abnormalities of the flagella, including absent, short, coiled, and irregular-caliber flagella, and a reduced concentration of sperm that has_material_basis_in homozygous mutation in the NUP210L gene on chromosome 1p21."
    },
    "synonyms": [
        {
            "id": "DOID:0070726",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070726",
            "name": "SPGF97",
            "description": ""
        },
        {
            "id": "MONDO:0975958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975958",
            "name": "spermatogenic failure 97",
            "description": ""
        },
        {
            "id": "MIM:621057",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621057",
            "name": "Spermatogenic failure 97",
            "description": "Spermatogenic failure 97"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070726"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070726",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070726",
            "categories": []
        },
        {
            "id": "MONDO:0975958",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975958",
            "categories": []
        },
        {
            "id": "MIM:621057",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621057",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5VU65-1",
            "uniprot_ac": "Q5VU65",
            "uniprot_id": "P210L_HUMAN",
            "refseq_ac": "NP_001152956",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear pore membrane glycoprotein 210-like",
                    "type": "recommended"
                },
                {
                    "name": "Nucleoporin 210 kDa-like",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup210-like",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore membrane glycoprotein 210-like (LOC91181)",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore membrane glycoprotein 210-like isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 210kDa like",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup210-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUP210L",
                    "type": "recommended"
                },
                {
                    "name": "NUP210L",
                    "type": "synonym"
                },
                {
                    "name": "SPGF97",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5VU65-1",
            "evidence": [
                {
                    "id": "621057",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621057"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070726"
}
