{
    "disease_id": "DOID:0111925",
    "recommended_name": {
        "id": "DOID:0111925",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111925",
        "name": "spermatogenic failure 32",
        "description": "A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in the SOHLH1 gene on chromosome 9q34.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111925",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111925",
            "name": "SPGF32",
            "description": ""
        },
        {
            "id": "MONDO:0020855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020855",
            "name": "spermatogenic failure 32",
            "description": ""
        },
        {
            "id": "MONDO:0020855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020855",
            "name": "SPGF32",
            "description": ""
        },
        {
            "id": "MONDO:0020855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020855",
            "name": "spermatogenic failure 32",
            "description": ""
        },
        {
            "id": "MIM:618115",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618115",
            "name": "Spermatogenic failure 32",
            "description": "Spermatogenic failure 32"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111925"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111925",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111925",
            "categories": []
        },
        {
            "id": "MONDO:0020855",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020855",
            "categories": []
        },
        {
            "id": "MIM:618115",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618115",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6IUP1-1",
            "uniprot_ac": "Q6IUP1",
            "uniprot_id": "SOLH1_MOUSE",
            "refseq_ac": "NP_001001714",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "helix-loop-helix protein NOHLH",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sohlh1",
                    "type": "recommended"
                },
                {
                    "name": "Gm110",
                    "type": "synonym"
                },
                {
                    "name": "Nohlh",
                    "type": "synonym"
                },
                {
                    "name": "Sohlh1",
                    "type": "synonym"
                },
                {
                    "name": "Tohlh1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IUP1-1",
            "evidence": [
                {
                    "id": "0111925",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111925"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5JUK2-1",
            "uniprot_ac": "Q5JUK2",
            "uniprot_id": "SOLH1_HUMAN",
            "refseq_ac": "NP_001012415",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "newborn ovary helix loop helix",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis associated 27",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SOHLH1",
                    "type": "recommended"
                },
                {
                    "name": "C9orf157",
                    "type": "synonym"
                },
                {
                    "name": "NOHLH",
                    "type": "synonym"
                },
                {
                    "name": "ODG5",
                    "type": "synonym"
                },
                {
                    "name": "SOHLH1",
                    "type": "synonym"
                },
                {
                    "name": "SPATA27",
                    "type": "synonym"
                },
                {
                    "name": "SPGF32",
                    "type": "synonym"
                },
                {
                    "name": "TEB2",
                    "type": "synonym"
                },
                {
                    "name": "bA100C15.3",
                    "type": "synonym"
                },
                {
                    "name": "bHLHe80",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5JUK2-1",
            "evidence": [
                {
                    "id": "618115",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618115"
                },
                {
                    "id": "0111925",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111925"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A4L1-1",
            "uniprot_ac": "D4A4L1",
            "uniprot_id": "D4A4L1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spermatogenesis and oogenesis specific basic helix-loop-helix 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sohlh1",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A4L1-1",
            "evidence": [
                {
                    "id": "0111925",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111925"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111925"
}