{
    "disease_id": "DOID:0090094",
    "recommended_name": {
        "id": "DOID:0090094",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090094",
        "name": "hypogonadotropic hypogonadism 1 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene."
    },
    "synonyms": [
        {
            "id": "DOID:0090094",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090094",
            "name": "dysplasia olfactogenitalis of de morsier",
            "description": ""
        },
        {
            "id": "MONDO:0010635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010635",
            "name": "hypogonadotropic hypogonadism 1 with or without anosmia",
            "description": "The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3."
        },
        {
            "id": "MONDO:0010635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010635",
            "name": "ANOS1 hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0010635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010635",
            "name": "hypogonadotropic hypogonadism 1 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0010635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010635",
            "name": "hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010635",
            "name": "hypogonadotropic hypogonadism caused by mutation in ANOS1",
            "description": ""
        },
        {
            "id": "MONDO:0010635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010635",
            "name": "HH1",
            "description": ""
        },
        {
            "id": "MONDO:0010635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010635",
            "name": "KAL1",
            "description": ""
        },
        {
            "id": "MONDO:0010635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010635",
            "name": "KMS",
            "description": ""
        },
        {
            "id": "MONDO:0010635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010635",
            "name": "Kallmann syndrome, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010635",
            "name": "Kallmann syndrome, type 1, X-linked",
            "description": ""
        },
        {
            "id": "MIM:308700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/308700",
            "name": "Hypogonadotropic hypogonadism 1 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 1 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090094"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090094",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090094",
            "categories": []
        },
        {
            "id": "MONDO:0010635",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010635",
            "categories": []
        },
        {
            "id": "MIM:308700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/308700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PBX0-1",
            "uniprot_ac": "A0A8M1PBX0",
            "uniprot_id": "A0A8M1PBX0_DANRE",
            "refseq_ac": "NP_571433",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.4.21.4",
                    "type": "synonym"
                },
                {
                    "name": "Anosmin-1a",
                    "type": "synonym"
                },
                {
                    "name": "Kallmann syndrome 1.1 sequence",
                    "type": "synonym"
                },
                {
                    "name": "Kallmann syndrome 1a sequence",
                    "type": "synonym"
                },
                {
                    "name": "anosmin-1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "anos1a",
                    "type": "recommended"
                },
                {
                    "name": "anos1a",
                    "type": "synonym"
                },
                {
                    "name": "anosmin-1a",
                    "type": "synonym"
                },
                {
                    "name": "kal1.1",
                    "type": "synonym"
                },
                {
                    "name": "kal1a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fl91z45",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PBX0-1",
            "evidence": [
                {
                    "id": "0090094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090094"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58IDR3-1",
            "uniprot_ac": "A0AC58IDR3",
            "uniprot_id": "A0AC58IDR3_DANRE",
            "refseq_ac": "XP_073792382",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anosmin-1b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "anosmin-1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "anos1b",
                    "type": "recommended"
                },
                {
                    "name": "anos1b",
                    "type": "synonym"
                },
                {
                    "name": "anosmin-1b",
                    "type": "synonym"
                },
                {
                    "name": "kal1.2",
                    "type": "synonym"
                },
                {
                    "name": "kal1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IDR3-1",
            "evidence": [
                {
                    "id": "0090094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090094"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23352-1",
            "uniprot_ac": "P23352",
            "uniprot_id": "KALM_HUMAN",
            "refseq_ac": "NP_000207",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anosmin-1",
                    "type": "recommended"
                },
                {
                    "name": "Adhesion molecule-like X-linked",
                    "type": "synonym"
                },
                {
                    "name": "Kallmann syndrome interval gene 1",
                    "type": "synonym"
                },
                {
                    "name": "Kallmann syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "Kallmann syndrome-1 sequence (anosmin-1)",
                    "type": "synonym"
                },
                {
                    "name": "WAP four-disulfide core domain 19",
                    "type": "synonym"
                },
                {
                    "name": "adhesion molecule-like X-linked",
                    "type": "synonym"
                },
                {
                    "name": "anosmin-1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "kallmann syndrome protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ANOS1",
                    "type": "recommended"
                },
                {
                    "name": "ADMLX",
                    "type": "synonym"
                },
                {
                    "name": "ANOS1",
                    "type": "synonym"
                },
                {
                    "name": "HH1",
                    "type": "synonym"
                },
                {
                    "name": "HHA",
                    "type": "synonym"
                },
                {
                    "name": "KAL1",
                    "type": "synonym"
                },
                {
                    "name": "KALIG-1",
                    "type": "synonym"
                },
                {
                    "name": "KALIG1",
                    "type": "synonym"
                },
                {
                    "name": "KAL",
                    "type": "synonym"
                },
                {
                    "name": "KMS",
                    "type": "synonym"
                },
                {
                    "name": "WFDC19",
                    "type": "synonym"
                }
            ],
            "record_id": "P23352-1",
            "evidence": [
                {
                    "id": "308700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/308700"
                },
                {
                    "id": "0090094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090094"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCC7-1",
            "uniprot_ac": "Q9VCC7",
            "uniprot_id": "Q9VCC7_DROME",
            "refseq_ac": "NP_651220",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6173-PA",
                    "type": "synonym"
                },
                {
                    "name": "Kal1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Kallmann syndrome 1",
                    "type": "synonym"
                },
                {
                    "name": "kal-1",
                    "type": "synonym"
                },
                {
                    "name": "kallmann syndrome 1 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "kallmann syndrome 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kal1",
                    "type": "recommended"
                },
                {
                    "name": "CG6173",
                    "type": "synonym"
                },
                {
                    "name": "CT19368",
                    "type": "synonym"
                },
                {
                    "name": "DmKal-1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6173",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6173",
                    "type": "synonym"
                },
                {
                    "name": "Dmkal",
                    "type": "synonym"
                },
                {
                    "name": "Kal-1",
                    "type": "synonym"
                },
                {
                    "name": "Kal1",
                    "type": "synonym"
                },
                {
                    "name": "kal-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCC7-1",
            "evidence": [
                {
                    "id": "0090094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090094"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090094"
}
