{
    "disease_id": "DOID:0090077",
    "recommended_name": {
        "id": "DOID:0090077",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090077",
        "name": "hypogonadotropic hypogonadism 4 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012528",
            "name": "hypogonadotropic hypogonadism 4 with or without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene."
        },
        {
            "id": "MONDO:0012528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012528",
            "name": "PROK2 hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0012528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012528",
            "name": "hypogonadotropic hypogonadism 4 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0012528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012528",
            "name": "hypogonadotropic hypogonadism caused by mutation in PROK2",
            "description": ""
        },
        {
            "id": "MONDO:0012528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012528",
            "name": "KAL4",
            "description": ""
        },
        {
            "id": "MONDO:0012528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012528",
            "name": "Kallman syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0012528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012528",
            "name": "HH4",
            "description": ""
        },
        {
            "id": "MONDO:0012528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012528",
            "name": "Kallmann syndrome 4",
            "description": ""
        },
        {
            "id": "MIM:610628",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610628",
            "name": "Hypogonadotropic hypogonadism 4 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 4 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090077"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090077",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090077",
            "categories": []
        },
        {
            "id": "MONDO:0012528",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012528",
            "categories": []
        },
        {
            "id": "MIM:610628",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610628",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QXU7-1",
            "uniprot_ac": "Q9QXU7",
            "uniprot_id": "PROK2_MOUSE",
            "refseq_ac": "NP_001032628",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prokineticin-2",
                    "type": "recommended"
                },
                {
                    "name": "Bombina variegata 8 kD protein",
                    "type": "synonym"
                },
                {
                    "name": "Bombina variegata 8kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Bv 8 homolog (Bombina variegata)",
                    "type": "synonym"
                },
                {
                    "name": "PK2",
                    "type": "synonym"
                },
                {
                    "name": "Protein Bv8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "prokineticin 1",
                    "type": "synonym"
                },
                {
                    "name": "prokineticin-2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein Bv8 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prok2",
                    "type": "recommended"
                },
                {
                    "name": "Bv8",
                    "type": "synonym"
                },
                {
                    "name": "PK2",
                    "type": "synonym"
                },
                {
                    "name": "Prok1",
                    "type": "synonym"
                },
                {
                    "name": "Prok2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QXU7-1",
            "evidence": [
                {
                    "id": "0090077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090077"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HC23-1",
            "uniprot_ac": "Q9HC23",
            "uniprot_id": "PROK2_HUMAN",
            "refseq_ac": "NP_001119600",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prokineticin-2",
                    "type": "recommended"
                },
                {
                    "name": "PK2",
                    "type": "synonym"
                },
                {
                    "name": "Protein Bv8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "prokineticin-2 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein Bv8 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PROK2",
                    "type": "recommended"
                },
                {
                    "name": "BV8",
                    "type": "synonym"
                },
                {
                    "name": "HH4",
                    "type": "synonym"
                },
                {
                    "name": "KAL4",
                    "type": "synonym"
                },
                {
                    "name": "MIT1",
                    "type": "synonym"
                },
                {
                    "name": "PK2",
                    "type": "synonym"
                },
                {
                    "name": "PROK2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HC23-1",
            "evidence": [
                {
                    "id": "610628",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610628"
                },
                {
                    "id": "0090077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090077"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R413-1",
            "uniprot_ac": "Q8R413",
            "uniprot_id": "PROK2_RAT",
            "refseq_ac": "NP_620207",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prokineticin-2",
                    "type": "recommended"
                },
                {
                    "name": "PK2",
                    "type": "synonym"
                },
                {
                    "name": "homolog of mouse Bv8 (Bombina variegata 8 kDa)",
                    "type": "synonym"
                },
                {
                    "name": "prokineticin 2 beta",
                    "type": "synonym"
                },
                {
                    "name": "prokineticin 2",
                    "type": "synonym"
                },
                {
                    "name": "prokineticin-2 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prok2",
                    "type": "recommended"
                },
                {
                    "name": "Bv8",
                    "type": "synonym"
                },
                {
                    "name": "PK2",
                    "type": "synonym"
                },
                {
                    "name": "Prok2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R413-1",
            "evidence": [
                {
                    "id": "0090077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090077"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090077"
}