{
    "disease_id": "DOID:0090091",
    "recommended_name": {
        "id": "DOID:0090091",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090091",
        "name": "hypogonadotropic hypogonadism 23 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0090091",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090091",
            "name": "46,XY DSD due to LHB deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090091",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090091",
            "name": "Pasqualini syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090091",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090091",
            "name": "fertile eunuch syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090091",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090091",
            "name": "leydig cell hypoplasia due to LHB deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090091",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090091",
            "name": "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090091",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090091",
            "name": "46,XY disorder of sex development due to LHB deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090091",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090091",
            "name": "46,XY DSD due to luteinizing hormone subunit beta deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090091",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090091",
            "name": "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009223",
            "name": "hypogonadotropic hypogonadism 23 with or without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene."
        },
        {
            "id": "MONDO:0009223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009223",
            "name": "46,XY DSD due to LHB deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009223",
            "name": "46,XY DSD due to luteinizing hormone subunit beta deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009223",
            "name": "46,XY disorder of sex development due to LHB deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009223",
            "name": "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009223",
            "name": "LHB hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0009223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009223",
            "name": "Leydig cell hypoplasia due to LHB deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009223",
            "name": "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009223",
            "name": "Pasqualini syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009223",
            "name": "fertile eunuch syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009223",
            "name": "hypogonadotropic hypogonadism caused by mutation in LHB",
            "description": ""
        },
        {
            "id": "MONDO:0009223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009223",
            "name": "HH23",
            "description": ""
        },
        {
            "id": "MONDO:0009223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009223",
            "name": "eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)",
            "description": ""
        },
        {
            "id": "MONDO:0009223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009223",
            "name": "hypogonadotropic hypogonadism 23 without anosmia",
            "description": ""
        },
        {
            "id": "MIM:228300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/228300",
            "name": "Hypogonadotropic hypogonadism 23 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 23 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090091"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090091",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090091",
            "categories": []
        },
        {
            "id": "MONDO:0009223",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009223",
            "categories": []
        },
        {
            "id": "MIM:228300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/228300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O09108-1",
            "uniprot_ac": "O09108",
            "uniprot_id": "LSHB_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lutropin subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "LH-B",
                    "type": "synonym"
                },
                {
                    "name": "LSH-B",
                    "type": "synonym"
                },
                {
                    "name": "LSH-beta",
                    "type": "synonym"
                },
                {
                    "name": "Luteinizing hormone subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Lutropin beta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lhb",
                    "type": "recommended"
                }
            ],
            "record_id": "O09108-1",
            "evidence": [
                {
                    "id": "0090091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090091"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01229-1",
            "uniprot_ac": "P01229",
            "uniprot_id": "LSHB_HUMAN",
            "refseq_ac": "NP_000885",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lutropin subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "LH-B",
                    "type": "synonym"
                },
                {
                    "name": "LSH-B",
                    "type": "synonym"
                },
                {
                    "name": "LSH-beta",
                    "type": "synonym"
                },
                {
                    "name": "Luteinizing hormone subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Lutropin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "interstitial cell stimulating hormone, beta chain",
                    "type": "synonym"
                },
                {
                    "name": "luteinizing hormone beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "luteinizing hormone beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "lutropin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "lutropin subunit beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "lutropin subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LHB",
                    "type": "recommended"
                },
                {
                    "name": "CGB4",
                    "type": "synonym"
                },
                {
                    "name": "HH23",
                    "type": "synonym"
                },
                {
                    "name": "LHB",
                    "type": "synonym"
                },
                {
                    "name": "LSH-B",
                    "type": "synonym"
                },
                {
                    "name": "LSH-beta",
                    "type": "synonym"
                }
            ],
            "record_id": "P01229-1",
            "evidence": [
                {
                    "id": "228300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/228300"
                },
                {
                    "id": "0090091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090091"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01230-1",
            "uniprot_ac": "P01230",
            "uniprot_id": "LSHB_RAT",
            "refseq_ac": "NP_001029147",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lutropin subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "LH-B",
                    "type": "synonym"
                },
                {
                    "name": "LSH-B",
                    "type": "synonym"
                },
                {
                    "name": "LSH-beta",
                    "type": "synonym"
                },
                {
                    "name": "Luteinizing hormone (lutropin) subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Luteinizing hormone subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Lutropin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "luteinizing hormone beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "luteinizing hormone beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "lutropin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "lutropin subunit beta isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "lutropin subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lhb",
                    "type": "recommended"
                },
                {
                    "name": "Lhb",
                    "type": "synonym"
                }
            ],
            "record_id": "P01230-1",
            "evidence": [
                {
                    "id": "0090091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090091"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94777-1",
            "uniprot_ac": "O94777",
            "uniprot_id": "DPM2_HUMAN",
            "refseq_ac": "NP_003854",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichol phosphate-mannose biosynthesis regulatory protein",
                    "type": "recommended"
                },
                {
                    "name": "DPM synthase complex subunit",
                    "type": "synonym"
                },
                {
                    "name": "DPM synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Dolichol-phosphate mannose synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichol phosphate-mannose biosynthesis regulatory protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichol phosphate-mannose biosynthesis regulatory protein",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate mannose synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPM2",
                    "type": "recommended"
                },
                {
                    "name": "CDG1U",
                    "type": "synonym"
                },
                {
                    "name": "DPM2",
                    "type": "synonym"
                },
                {
                    "name": "My026",
                    "type": "synonym"
                }
            ],
            "record_id": "O94777-1",
            "evidence": [
                {
                    "id": "0090091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090091"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090091"
}