{
    "disease_id": "DOID:0111156",
    "recommended_name": {
        "id": "DOID:0111156",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111156",
        "name": "spermatogenic failure 9",
        "description": "A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14."
    },
    "synonyms": [
        {
            "id": "DOID:0111156",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111156",
            "name": "globozoospermia",
            "description": ""
        },
        {
            "id": "DOID:0111156",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111156",
            "name": "male infertility due to round-headed spermatozoa",
            "description": ""
        },
        {
            "id": "MONDO:0013505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013505",
            "name": "spermatogenic failure 9",
            "description": "Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene."
        },
        {
            "id": "MONDO:0013505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013505",
            "name": "DPY19L2 azoospermia",
            "description": ""
        },
        {
            "id": "MONDO:0013505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013505",
            "name": "azoospermia caused by mutation in DPY19L2",
            "description": ""
        },
        {
            "id": "MONDO:0013505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013505",
            "name": "spermatogenic failure 9",
            "description": ""
        },
        {
            "id": "MONDO:0013505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013505",
            "name": "spermatogenic failure type 9",
            "description": ""
        },
        {
            "id": "MONDO:0013505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013505",
            "name": "SPGF9",
            "description": ""
        },
        {
            "id": "MIM:613958",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613958",
            "name": "Spermatogenic failure 9",
            "description": "Spermatogenic failure 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111156"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111156",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111156",
            "categories": []
        },
        {
            "id": "MONDO:0013505",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013505",
            "categories": []
        },
        {
            "id": "MIM:613958",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613958",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P0CW70-1",
            "uniprot_ac": "P0CW70",
            "uniprot_id": "D19L2_MOUSE",
            "refseq_ac": "NP_001159679",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable C-mannosyltransferase DPY19L2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Dpy-19-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein dpy-19 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "dpy-19-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "probable C-mannosyltransferase DPY19L2",
                    "type": "synonym"
                },
                {
                    "name": "protein dpy-19 homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpy19l2",
                    "type": "recommended"
                },
                {
                    "name": "4932443J21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dpy19l2",
                    "type": "synonym"
                },
                {
                    "name": "Gm18376",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CW70-1",
            "evidence": [
                {
                    "id": "0111156",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111156"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NUT2-1",
            "uniprot_ac": "Q6NUT2",
            "uniprot_id": "D19L2_HUMAN",
            "refseq_ac": "NP_776173",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable C-mannosyltransferase DPY19L2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Dpy-19-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein dpy-19 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "probable C-mannosyltransferase DPY19L2",
                    "type": "synonym"
                },
                {
                    "name": "protein dpy-19 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis associated 34",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPY19L2",
                    "type": "recommended"
                },
                {
                    "name": "DPY19L2",
                    "type": "synonym"
                },
                {
                    "name": "PRO10284",
                    "type": "synonym"
                },
                {
                    "name": "SPATA34",
                    "type": "synonym"
                },
                {
                    "name": "SPGF9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NUT2-1",
            "evidence": [
                {
                    "id": "613958",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613958"
                },
                {
                    "id": "0111156",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111156"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RC58-1",
            "uniprot_ac": "M0RC58",
            "uniprot_id": "M0RC58_RAT",
            "refseq_ac": "NP_001416362",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dpy-19 like 2",
                    "type": "synonym"
                },
                {
                    "name": "dpy-19 like 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "probable C-mannosyltransferase DPY19L2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpy19l2",
                    "type": "recommended"
                },
                {
                    "name": "Dpy19l2",
                    "type": "synonym"
                },
                {
                    "name": "Dyp19l2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564311",
                    "type": "synonym"
                }
            ],
            "record_id": "M0RC58-1",
            "evidence": [
                {
                    "id": "0111156",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111156"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWR8-1",
            "uniprot_ac": "Q9VWR8",
            "uniprot_id": "DPY19_DROME",
            "refseq_ac": "NP_573317",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "C-mannosyltransferase dpy-19 homolog",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6659-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG6659",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6659",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWR8-1",
            "evidence": [
                {
                    "id": "0111156",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111156"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111156"
}