{
    "disease_id": "DOID:0090076",
    "recommended_name": {
        "id": "DOID:0090076",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090076",
        "name": "hypogonadotropic hypogonadism 18 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes."
    },
    "synonyms": [
        {
            "id": "MONDO:0014103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014103",
            "name": "hypogonadotropic hypogonadism 18 with or without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene."
        },
        {
            "id": "MONDO:0014103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014103",
            "name": "IL17RD hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0014103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014103",
            "name": "hypogonadotropic hypogonadism 18 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0014103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014103",
            "name": "hypogonadotropic hypogonadism 18 with or without anosmia, Autosomal recessive, Autosomal dominant, Digenic dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014103",
            "name": "hypogonadotropic hypogonadism caused by mutation in IL17RD",
            "description": ""
        },
        {
            "id": "MONDO:0014103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014103",
            "name": "HH18",
            "description": ""
        },
        {
            "id": "MIM:615267",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615267",
            "name": "Hypogonadotropic hypogonadism 18 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 18 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090076"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090076",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090076",
            "categories": []
        },
        {
            "id": "MONDO:0014103",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014103",
            "categories": []
        },
        {
            "id": "MIM:615267",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615267",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8QHJ9-1",
            "uniprot_ac": "Q8QHJ9",
            "uniprot_id": "I17RD_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-17 receptor D",
                    "type": "recommended"
                },
                {
                    "name": "IL-17 receptor D",
                    "type": "synonym"
                },
                {
                    "name": "IL-17RD",
                    "type": "synonym"
                },
                {
                    "name": "Sef",
                    "type": "synonym"
                },
                {
                    "name": "Similar expression to FGF genes protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "il17rd",
                    "type": "recommended"
                },
                {
                    "name": "cb208",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd2875",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd5059",
                    "type": "synonym"
                },
                {
                    "name": "sef",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136328",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8QHJ9-1",
            "evidence": [
                {
                    "id": "0090076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8JZL1-1",
            "uniprot_ac": "Q8JZL1",
            "uniprot_id": "I17RD_MOUSE",
            "refseq_ac": "NP_602319",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-17 receptor D",
                    "type": "recommended"
                },
                {
                    "name": "IL-17 receptor D",
                    "type": "synonym"
                },
                {
                    "name": "IL-17RD",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-17 receptor-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Sef homolog",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-17 receptor D isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-17 receptor-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mSef",
                    "type": "synonym"
                },
                {
                    "name": "sef homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il17rd",
                    "type": "recommended"
                },
                {
                    "name": "2810004A10Rik",
                    "type": "synonym"
                },
                {
                    "name": "IL-17RD",
                    "type": "synonym"
                },
                {
                    "name": "Il17rd",
                    "type": "synonym"
                },
                {
                    "name": "Il17rlm",
                    "type": "synonym"
                },
                {
                    "name": "Sef-S",
                    "type": "synonym"
                },
                {
                    "name": "Sef",
                    "type": "synonym"
                },
                {
                    "name": "mSef",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8JZL1-1",
            "evidence": [
                {
                    "id": "0090076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NFM7-1",
            "uniprot_ac": "Q8NFM7",
            "uniprot_id": "I17RD_HUMAN",
            "refseq_ac": "NP_001305793",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-17 receptor D",
                    "type": "recommended"
                },
                {
                    "name": "IL-17 receptor D",
                    "type": "synonym"
                },
                {
                    "name": "IL-17RD",
                    "type": "synonym"
                },
                {
                    "name": "IL17Rhom",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-17 receptor-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Sef homolog",
                    "type": "synonym"
                },
                {
                    "name": "hSef",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-17 receptor D isoform b",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-17 receptor-like protein",
                    "type": "synonym"
                },
                {
                    "name": "sef homolog",
                    "type": "synonym"
                },
                {
                    "name": "similar expression to fgf genes",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IL17RD",
                    "type": "recommended"
                },
                {
                    "name": "HH18",
                    "type": "synonym"
                },
                {
                    "name": "IL-17RD",
                    "type": "synonym"
                },
                {
                    "name": "IL17RD",
                    "type": "synonym"
                },
                {
                    "name": "IL17RLM",
                    "type": "synonym"
                },
                {
                    "name": "PRO20026",
                    "type": "synonym"
                },
                {
                    "name": "SEF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NFM7-1",
            "evidence": [
                {
                    "id": "615267",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615267"
                },
                {
                    "id": "0090076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZGQ0-1",
            "uniprot_ac": "D3ZGQ0",
            "uniprot_id": "D3ZGQ0_RAT",
            "refseq_ac": "NP_001178866",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-17 receptor D",
                    "type": "recommended"
                },
                {
                    "name": "Interleukin-17 receptor-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Sef homolog",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-17 receptor D isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il17rd",
                    "type": "recommended"
                },
                {
                    "name": "Il17rd",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565237",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZGQ0-1",
            "evidence": [
                {
                    "id": "0090076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090076"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090076"
}