{
    "disease_id": "DOID:0090072",
    "recommended_name": {
        "id": "DOID:0090072",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090072",
        "name": "hypogonadotropic hypogonadism 12 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21."
    },
    "synonyms": [
        {
            "id": "DOID:0090072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090072",
            "name": "familial hypogonadotrophic eunuchoidism",
            "description": ""
        },
        {
            "id": "DOID:0090072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090072",
            "name": "familial idiopathic gonadotrpin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "name": "hypogonadotropic hypogonadism 12 with or without anosmia",
            "description": "A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21."
        },
        {
            "id": "MONDO:0013914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "name": "eunuchoidism, familial hypogonadotropic",
            "description": ""
        },
        {
            "id": "MONDO:0013914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "name": "hypogonadotropic hypogonadism 12 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0013914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "name": "FIGD",
            "description": ""
        },
        {
            "id": "MONDO:0013914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "name": "HH12",
            "description": ""
        },
        {
            "id": "MONDO:0013914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "name": "eunuchoidism familial hypogonadotropic",
            "description": ""
        },
        {
            "id": "MONDO:0013914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "name": "familial hypogonadotropic eunuchoidism",
            "description": ""
        },
        {
            "id": "MONDO:0013914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "name": "gonadotropin deficiency familial idiopathic",
            "description": ""
        },
        {
            "id": "MONDO:0013914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "name": "hypogonadotropic hypogonadism 12 with or without anosmia",
            "description": "A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21."
        },
        {
            "id": "MONDO:0013914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "name": "eunuchoidism, familial hypogonadotropic",
            "description": ""
        },
        {
            "id": "MONDO:0013914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "name": "hypogonadotropic hypogonadism 12 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0013914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "name": "FIGD",
            "description": ""
        },
        {
            "id": "MONDO:0013914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "name": "HH12",
            "description": ""
        },
        {
            "id": "MONDO:0013914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "name": "eunuchoidism familial hypogonadotropic",
            "description": ""
        },
        {
            "id": "MONDO:0013914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "name": "familial hypogonadotropic eunuchoidism",
            "description": ""
        },
        {
            "id": "MONDO:0013914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "name": "gonadotropin deficiency familial idiopathic",
            "description": ""
        },
        {
            "id": "MIM:614841",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614841",
            "name": "Hypogonadotropic hypogonadism 12 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 12 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090072"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090072",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090072",
            "categories": []
        },
        {
            "id": "MONDO:0013914",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013914",
            "categories": []
        },
        {
            "id": "MIM:614841",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614841",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P13562-1",
            "uniprot_ac": "P13562",
            "uniprot_id": "GON1_MOUSE",
            "refseq_ac": "NP_032171",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Progonadoliberin-1",
                    "type": "recommended"
                },
                {
                    "name": "GnRH-I",
                    "type": "synonym"
                },
                {
                    "name": "Gonadoliberin I",
                    "type": "synonym"
                },
                {
                    "name": "Gonadotropin-releasing hormone I",
                    "type": "synonym"
                },
                {
                    "name": "LH-RH I",
                    "type": "synonym"
                },
                {
                    "name": "Luliberin I",
                    "type": "synonym"
                },
                {
                    "name": "Luteinizing hormone-releasing hormone I",
                    "type": "synonym"
                },
                {
                    "name": "Progonadoliberin I",
                    "type": "synonym"
                },
                {
                    "name": "Prolactin release-inhibiting factor I",
                    "type": "synonym"
                },
                {
                    "name": "gonadotropin releasing hormone 2",
                    "type": "synonym"
                },
                {
                    "name": "luteinizing hormone-releasing hormone I",
                    "type": "synonym"
                },
                {
                    "name": "progonadoliberin I",
                    "type": "synonym"
                },
                {
                    "name": "progonadoliberin-1 isoform 1 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnrh1",
                    "type": "recommended"
                },
                {
                    "name": "Gnrh1",
                    "type": "synonym"
                },
                {
                    "name": "Gnrh2",
                    "type": "synonym"
                },
                {
                    "name": "Gnrh",
                    "type": "synonym"
                },
                {
                    "name": "LHRH",
                    "type": "synonym"
                },
                {
                    "name": "Lhrh1",
                    "type": "synonym"
                },
                {
                    "name": "Lnrh",
                    "type": "synonym"
                },
                {
                    "name": "hpg",
                    "type": "synonym"
                }
            ],
            "record_id": "P13562-1",
            "evidence": [
                {
                    "id": "0090072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090072"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01148-1",
            "uniprot_ac": "P01148",
            "uniprot_id": "GON1_HUMAN",
            "refseq_ac": "NP_001076580",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Progonadoliberin-1",
                    "type": "recommended"
                },
                {
                    "name": "GnRH-I",
                    "type": "synonym"
                },
                {
                    "name": "GnRH-associated peptide 1",
                    "type": "synonym"
                },
                {
                    "name": "GnRH-associated peptide I",
                    "type": "synonym"
                },
                {
                    "name": "Gonadoliberin I",
                    "type": "synonym"
                },
                {
                    "name": "Gonadorelin",
                    "type": "synonym"
                },
                {
                    "name": "Gonadotropin-releasing hormone I",
                    "type": "synonym"
                },
                {
                    "name": "LH-RH I",
                    "type": "synonym"
                },
                {
                    "name": "Luliberin I",
                    "type": "synonym"
                },
                {
                    "name": "Luteinizing hormone-releasing hormone I",
                    "type": "synonym"
                },
                {
                    "name": "Progonadoliberin I",
                    "type": "synonym"
                },
                {
                    "name": "gonadoliberin",
                    "type": "synonym"
                },
                {
                    "name": "gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)",
                    "type": "synonym"
                },
                {
                    "name": "leuteinizing-releasing hormone",
                    "type": "synonym"
                },
                {
                    "name": "luliberin I",
                    "type": "synonym"
                },
                {
                    "name": "progonadoliberin-1 isoform 2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "progonadoliberin-1",
                    "type": "synonym"
                },
                {
                    "name": "prolactin release-inhibiting factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GNRH1",
                    "type": "recommended"
                },
                {
                    "name": "GNRH1",
                    "type": "synonym"
                },
                {
                    "name": "GNRH",
                    "type": "synonym"
                },
                {
                    "name": "GRH",
                    "type": "synonym"
                },
                {
                    "name": "LHRH",
                    "type": "synonym"
                },
                {
                    "name": "LNRH",
                    "type": "synonym"
                }
            ],
            "record_id": "P01148-1",
            "evidence": [
                {
                    "id": "614841",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614841"
                },
                {
                    "id": "0090072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090072"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07490-1",
            "uniprot_ac": "P07490",
            "uniprot_id": "GON1_RAT",
            "refseq_ac": "NP_036899",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Progonadoliberin-1",
                    "type": "recommended"
                },
                {
                    "name": "GnRH-I",
                    "type": "synonym"
                },
                {
                    "name": "Gonadoliberin I",
                    "type": "synonym"
                },
                {
                    "name": "Gonadotropin-releasing hormone I",
                    "type": "synonym"
                },
                {
                    "name": "LH-RH I",
                    "type": "synonym"
                },
                {
                    "name": "Luliberin I",
                    "type": "synonym"
                },
                {
                    "name": "Luteinizing hormone-releasing hormone I",
                    "type": "synonym"
                },
                {
                    "name": "Progonadoliberin I",
                    "type": "synonym"
                },
                {
                    "name": "Prolactin release-inhibiting factor I",
                    "type": "synonym"
                },
                {
                    "name": "Putative protein SH",
                    "type": "synonym"
                },
                {
                    "name": "gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)",
                    "type": "synonym"
                },
                {
                    "name": "luteinizing hormone-releasing hormone",
                    "type": "synonym"
                },
                {
                    "name": "progonadoliberin I",
                    "type": "synonym"
                },
                {
                    "name": "progonadoliberin-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "progonadoliberin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnrh1",
                    "type": "recommended"
                },
                {
                    "name": "Gnrh1",
                    "type": "synonym"
                },
                {
                    "name": "Gnrha",
                    "type": "synonym"
                },
                {
                    "name": "Gnrh",
                    "type": "synonym"
                },
                {
                    "name": "Lhrh",
                    "type": "synonym"
                },
                {
                    "name": "Rgnrhg1",
                    "type": "synonym"
                },
                {
                    "name": "SH-4",
                    "type": "synonym"
                }
            ],
            "record_id": "P07490-1",
            "evidence": [
                {
                    "id": "0090072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090072"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ULH1-1",
            "uniprot_ac": "Q9ULH1",
            "uniprot_id": "ASAP1_HUMAN",
            "refseq_ac": "NP_001234925",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein",
                    "type": "synonym"
                },
                {
                    "name": "130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-directed GTPase-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ARF GTPase-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "DEF-1",
                    "type": "synonym"
                },
                {
                    "name": "Development and differentiation-enhancing factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Differentiation-enhancing factor 1",
                    "type": "synonym"
                },
                {
                    "name": "PIP2-dependent ARF1 GAP",
                    "type": "synonym"
                },
                {
                    "name": "arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "centaurin, beta 4",
                    "type": "synonym"
                },
                {
                    "name": "development and differentiation-enhancing factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ASAP1",
                    "type": "recommended"
                },
                {
                    "name": "AMAP1",
                    "type": "synonym"
                },
                {
                    "name": "ASAP1",
                    "type": "synonym"
                },
                {
                    "name": "CENTB4",
                    "type": "synonym"
                },
                {
                    "name": "DDEF1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1249",
                    "type": "synonym"
                },
                {
                    "name": "PAG2",
                    "type": "synonym"
                },
                {
                    "name": "PAP",
                    "type": "synonym"
                },
                {
                    "name": "ZG14P",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULH1-1",
            "evidence": [
                {
                    "id": "0090072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090072"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090072"
}