{
    "disease_id": "DOID:0090080",
    "recommended_name": {
        "id": "DOID:0090080",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090080",
        "name": "hypogonadotropic hypogonadism 16 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes."
    },
    "synonyms": [
        {
            "id": "MONDO:0013961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013961",
            "name": "hypogonadotropic hypogonadism 16 with or without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene."
        },
        {
            "id": "MONDO:0013961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013961",
            "name": "SEMA3A hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0013961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013961",
            "name": "hypogonadotropic hypogonadism 16 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0013961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013961",
            "name": "hypogonadotropic hypogonadism caused by mutation in SEMA3A",
            "description": ""
        },
        {
            "id": "MONDO:0013961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013961",
            "name": "HH16",
            "description": ""
        },
        {
            "id": "MIM:614897",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614897",
            "name": "Hypogonadotropic hypogonadism 16 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 16 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090080"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090080",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090080",
            "categories": []
        },
        {
            "id": "MONDO:0013961",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013961",
            "categories": []
        },
        {
            "id": "MIM:614897",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614897",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9W7J1-1",
            "uniprot_ac": "Q9W7J1",
            "uniprot_id": "SE3AA_DANRE",
            "refseq_ac": "NP_571135",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Semaphorin-3aa",
                    "type": "recommended"
                },
                {
                    "name": "Sema Z1A",
                    "type": "synonym"
                },
                {
                    "name": "Semaphorin-1A",
                    "type": "synonym"
                },
                {
                    "name": "Semaphorin-Z1A",
                    "type": "synonym"
                },
                {
                    "name": "sem1a",
                    "type": "synonym"
                },
                {
                    "name": "sema Z1A",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin 1a",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-1A",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-3aa precursor",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-3aa",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-Z1A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sema3aa",
                    "type": "recommended"
                },
                {
                    "name": "sema1a",
                    "type": "synonym"
                },
                {
                    "name": "sema3a1",
                    "type": "synonym"
                },
                {
                    "name": "sema3aa",
                    "type": "synonym"
                },
                {
                    "name": "semaZ1a",
                    "type": "synonym"
                },
                {
                    "name": "semaz1a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W7J1-1",
            "evidence": [
                {
                    "id": "0090080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W686-1",
            "uniprot_ac": "Q9W686",
            "uniprot_id": "SE3AB_DANRE",
            "refseq_ac": "NP_571136",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Semaphorin-3ab",
                    "type": "recommended"
                },
                {
                    "name": "Sema Z1B",
                    "type": "synonym"
                },
                {
                    "name": "Semaphorin-1B",
                    "type": "synonym"
                },
                {
                    "name": "Semaphorin-Z1B",
                    "type": "synonym"
                },
                {
                    "name": "sema Z1B",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin 1b",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-1B",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-3ab precursor",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-3ab",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-Z1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sema3ab",
                    "type": "recommended"
                },
                {
                    "name": "sema1b",
                    "type": "synonym"
                },
                {
                    "name": "sema3a2",
                    "type": "synonym"
                },
                {
                    "name": "sema3ab",
                    "type": "synonym"
                },
                {
                    "name": "semaZ1b",
                    "type": "synonym"
                },
                {
                    "name": "semaz1b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W686-1",
            "evidence": [
                {
                    "id": "0090080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08665-1",
            "uniprot_ac": "O08665",
            "uniprot_id": "SEM3A_MOUSE",
            "refseq_ac": "NP_001230001",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Semaphorin-3A",
                    "type": "recommended"
                },
                {
                    "name": "Sema D",
                    "type": "synonym"
                },
                {
                    "name": "Sema III",
                    "type": "synonym"
                },
                {
                    "name": "Semaphorin III",
                    "type": "synonym"
                },
                {
                    "name": "Semaphorin-D",
                    "type": "synonym"
                },
                {
                    "name": "collapsin-1",
                    "type": "synonym"
                },
                {
                    "name": "sema D",
                    "type": "synonym"
                },
                {
                    "name": "sema III",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin III",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-3A precursor",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-3A",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sema3a",
                    "type": "recommended"
                },
                {
                    "name": "Hsema-I",
                    "type": "synonym"
                },
                {
                    "name": "SEMA1",
                    "type": "synonym"
                },
                {
                    "name": "SemD",
                    "type": "synonym"
                },
                {
                    "name": "Sema3a",
                    "type": "synonym"
                },
                {
                    "name": "Semad",
                    "type": "synonym"
                },
                {
                    "name": "coll-1",
                    "type": "synonym"
                }
            ],
            "record_id": "O08665-1",
            "evidence": [
                {
                    "id": "0090080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14563-1",
            "uniprot_ac": "Q14563",
            "uniprot_id": "SEM3A_HUMAN",
            "refseq_ac": "NP_006071",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Semaphorin-3A",
                    "type": "recommended"
                },
                {
                    "name": "Sema III",
                    "type": "synonym"
                },
                {
                    "name": "Semaphorin III",
                    "type": "synonym"
                },
                {
                    "name": "collapsin 1",
                    "type": "synonym"
                },
                {
                    "name": "sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin D",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin III",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin L",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-3A precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEMA3A",
                    "type": "recommended"
                },
                {
                    "name": "COLL1",
                    "type": "synonym"
                },
                {
                    "name": "HH16",
                    "type": "synonym"
                },
                {
                    "name": "Hsema-III",
                    "type": "synonym"
                },
                {
                    "name": "Hsema-I",
                    "type": "synonym"
                },
                {
                    "name": "SEMA1",
                    "type": "synonym"
                },
                {
                    "name": "SEMA3A",
                    "type": "synonym"
                },
                {
                    "name": "SEMAD",
                    "type": "synonym"
                },
                {
                    "name": "SEMAIII",
                    "type": "synonym"
                },
                {
                    "name": "SEMAL",
                    "type": "synonym"
                },
                {
                    "name": "SemD",
                    "type": "synonym"
                },
                {
                    "name": "coll-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14563-1",
            "evidence": [
                {
                    "id": "614897",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614897"
                },
                {
                    "id": "0090080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63548-1",
            "uniprot_ac": "Q63548",
            "uniprot_id": "SEM3A_RAT",
            "refseq_ac": "NP_059006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Semaphorin-3A",
                    "type": "recommended"
                },
                {
                    "name": "Sema III",
                    "type": "synonym"
                },
                {
                    "name": "Semaphorin III",
                    "type": "synonym"
                },
                {
                    "name": "sema III",
                    "type": "synonym"
                },
                {
                    "name": "sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A",
                    "type": "synonym"
                },
                {
                    "name": "sema domain, immunoglobulin domain (Ig), short basic domain, sec",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin III",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-3A precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sema3a",
                    "type": "recommended"
                },
                {
                    "name": "Sema3a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63548-1",
            "evidence": [
                {
                    "id": "0090080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24323-1",
            "uniprot_ac": "Q24323",
            "uniprot_id": "SEM2A_DROME",
            "refseq_ac": "NP_477507",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Semaphorin-2A",
                    "type": "recommended"
                },
                {
                    "name": "CG4700-PA",
                    "type": "synonym"
                },
                {
                    "name": "D-Semaphorin II",
                    "type": "synonym"
                },
                {
                    "name": "Sema II",
                    "type": "synonym"
                },
                {
                    "name": "Sema-2a",
                    "type": "synonym"
                },
                {
                    "name": "Sema2a-PA",
                    "type": "synonym"
                },
                {
                    "name": "Semaphorin-II",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin 2a, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin 2a",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin II",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin",
                    "type": "synonym"
                },
                {
                    "name": "semiphorin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sema2a",
                    "type": "recommended"
                },
                {
                    "name": "112/40",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LD09561",
                    "type": "synonym"
                },
                {
                    "name": "CG4700",
                    "type": "synonym"
                },
                {
                    "name": "CT14922",
                    "type": "synonym"
                },
                {
                    "name": "D-Sema II",
                    "type": "synonym"
                },
                {
                    "name": "D-Sema-II",
                    "type": "synonym"
                },
                {
                    "name": "D-Sema2a",
                    "type": "synonym"
                },
                {
                    "name": "D-SemaII",
                    "type": "synonym"
                },
                {
                    "name": "D-semaII",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4700",
                    "type": "synonym"
                },
                {
                    "name": "Dsema-II",
                    "type": "synonym"
                },
                {
                    "name": "Sema-2a",
                    "type": "synonym"
                },
                {
                    "name": "Sema2a",
                    "type": "synonym"
                },
                {
                    "name": "SemaII",
                    "type": "synonym"
                },
                {
                    "name": "dSema-II",
                    "type": "synonym"
                },
                {
                    "name": "l(2)03021",
                    "type": "synonym"
                },
                {
                    "name": "sema 2a",
                    "type": "synonym"
                },
                {
                    "name": "sema II",
                    "type": "synonym"
                },
                {
                    "name": "sema-2a",
                    "type": "synonym"
                },
                {
                    "name": "sema-II",
                    "type": "synonym"
                },
                {
                    "name": "sema2a",
                    "type": "synonym"
                },
                {
                    "name": "semaII",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24323-1",
            "evidence": [
                {
                    "id": "0090080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07332-1",
            "uniprot_ac": "P07332",
            "uniprot_id": "FES_HUMAN",
            "refseq_ac": "NP_001137255",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase Fes/Fps",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "Feline sarcoma/Fujinami avian sarcoma oncogene homolog",
                    "type": "synonym"
                },
                {
                    "name": "Oncogene FES, feline sarcoma virus",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Fes",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Fps",
                    "type": "synonym"
                },
                {
                    "name": "feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog",
                    "type": "synonym"
                },
                {
                    "name": "feline sarcoma oncogene",
                    "type": "synonym"
                },
                {
                    "name": "feline sarcoma/Fujinami avian sarcoma oncogene homolog",
                    "type": "synonym"
                },
                {
                    "name": "p93c-fes",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Fes",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Fps",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene tyrosine-protein kinase Fes/Fps",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase Fes/Fps isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FES",
                    "type": "recommended"
                },
                {
                    "name": "FES",
                    "type": "synonym"
                },
                {
                    "name": "FPS",
                    "type": "synonym"
                }
            ],
            "record_id": "P07332-1",
            "evidence": [
                {
                    "id": "0090080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090080"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090080"
}