{
    "disease_id": "DOID:0090088",
    "recommended_name": {
        "id": "DOID:0090088",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090088",
        "name": "hypogonadotropic hypogonadism 24 without anosmia",
        "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14."
    },
    "synonyms": [
        {
            "id": "DOID:0090088",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090088",
            "name": "isolated follicle-stimulating hormone deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009239",
            "name": "hypogonadotropic hypogonadism 24 without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene."
        },
        {
            "id": "MONDO:0009239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009239",
            "name": "FSHB hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0009239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009239",
            "name": "hypogonadotropic hypogonadism 24 without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0009239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009239",
            "name": "hypogonadotropic hypogonadism caused by mutation in FSHB",
            "description": ""
        },
        {
            "id": "MONDO:0009239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009239",
            "name": "isolated FSH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009239",
            "name": "HH24",
            "description": ""
        },
        {
            "id": "MONDO:0009239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009239",
            "name": "isolated follicle-stimulating hormone (FSH) deficiency",
            "description": ""
        },
        {
            "id": "MIM:229070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/229070",
            "name": "Hypogonadotropic hypogonadism 24 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 24 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090088"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090088",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090088",
            "categories": []
        },
        {
            "id": "MONDO:0009239",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009239",
            "categories": []
        },
        {
            "id": "MIM:229070",
            "database": "MIM",
            "url": "https://www.omim.org/entry/229070",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q60687-1",
            "uniprot_ac": "Q60687",
            "uniprot_id": "FSHB_MOUSE",
            "refseq_ac": "NP_032071",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Follitropin subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "FSH-B",
                    "type": "synonym"
                },
                {
                    "name": "FSH-beta",
                    "type": "synonym"
                },
                {
                    "name": "Follicle-stimulating hormone beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "Follitropin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "follicle-stimulating hormone beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "follitropin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "follitropin subunit beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "follitropin subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fshb",
                    "type": "recommended"
                },
                {
                    "name": "FSH-B",
                    "type": "synonym"
                },
                {
                    "name": "FSH-beta",
                    "type": "synonym"
                },
                {
                    "name": "FSH",
                    "type": "synonym"
                },
                {
                    "name": "Fshbeta",
                    "type": "synonym"
                },
                {
                    "name": "Fshb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60687-1",
            "evidence": [
                {
                    "id": "0090088",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090088"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01225-1",
            "uniprot_ac": "P01225",
            "uniprot_id": "FSHB_HUMAN",
            "refseq_ac": "NP_000501",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Follitropin subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "FSH-B",
                    "type": "synonym"
                },
                {
                    "name": "FSH-beta",
                    "type": "synonym"
                },
                {
                    "name": "Follicle-stimulating hormone beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "Follitropin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "follicle stimulating hormone beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "follicle stimulating hormone, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "follitropin subunit beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "follitropin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "follitropin, beta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FSHB",
                    "type": "recommended"
                },
                {
                    "name": "FSHB",
                    "type": "synonym"
                },
                {
                    "name": "HH24",
                    "type": "synonym"
                }
            ],
            "record_id": "P01225-1",
            "evidence": [
                {
                    "id": "229070",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/229070"
                },
                {
                    "id": "0090088",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090088"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18427-1",
            "uniprot_ac": "P18427",
            "uniprot_id": "FSHB_RAT",
            "refseq_ac": "NP_001007598",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Follitropin subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "FSH-B",
                    "type": "synonym"
                },
                {
                    "name": "FSH-beta",
                    "type": "synonym"
                },
                {
                    "name": "Follicle-stimulating hormone beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "Follitropin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "follicle - stimulating hormone subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "follicle stimulating hormone beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "follicle stimulating hormone, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "follitropin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "follitropin subunit beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "follitropin subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fshb",
                    "type": "recommended"
                },
                {
                    "name": "FSH-B",
                    "type": "synonym"
                },
                {
                    "name": "FSH-beta",
                    "type": "synonym"
                },
                {
                    "name": "Fshb",
                    "type": "synonym"
                }
            ],
            "record_id": "P18427-1",
            "evidence": [
                {
                    "id": "0090088",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090088"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090088"
}
