{
    "disease_id": "DOID:0090085",
    "recommended_name": {
        "id": "DOID:0090085",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090085",
        "name": "hypogonadotropic hypogonadism 9 with or without anosmia",
        "description": "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0013911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013911",
            "name": "hypogonadotropic hypogonadism 9 with or without anosmia",
            "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene."
        },
        {
            "id": "MONDO:0013911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013911",
            "name": "NSMF hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0013911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013911",
            "name": "hypogonadotropic hypogonadism 9 with or without anosmia",
            "description": ""
        },
        {
            "id": "MONDO:0013911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013911",
            "name": "hypogonadotropic hypogonadism caused by mutation in NSMF",
            "description": ""
        },
        {
            "id": "MONDO:0013911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013911",
            "name": "HH9",
            "description": ""
        },
        {
            "id": "MIM:614838",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614838",
            "name": "Hypogonadotropic hypogonadism 9 with or without anosmia",
            "description": "Hypogonadotropic hypogonadism 9 with or without anosmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090085"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090085",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090085",
            "categories": []
        },
        {
            "id": "MONDO:0013911",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013911",
            "categories": []
        },
        {
            "id": "MIM:614838",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614838",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8PYG1-1",
            "uniprot_ac": "B8PYG1",
            "uniprot_id": "NSMF_DANRE",
            "refseq_ac": "NP_001137373",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "NMDA receptor synaptonuclear signaling and neuronal migration factor",
                    "type": "recommended"
                },
                {
                    "name": "NMDA receptor synaptonuclear signaling and neuronal migration factor",
                    "type": "synonym"
                },
                {
                    "name": "Nasal embryonic LHRH factor",
                    "type": "synonym"
                },
                {
                    "name": "Nasal embryonic luteinizing hormone-releasing hormone factor",
                    "type": "synonym"
                },
                {
                    "name": "nasal embryonic LHRH factor b",
                    "type": "synonym"
                },
                {
                    "name": "nasal embryonic luteinizing hormone-releasing hormone factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nsmfb",
                    "type": "recommended"
                },
                {
                    "name": "nsmf",
                    "type": "recommended"
                },
                {
                    "name": "nelfb",
                    "type": "synonym"
                },
                {
                    "name": "nelf",
                    "type": "synonym"
                },
                {
                    "name": "nsmfb",
                    "type": "synonym"
                },
                {
                    "name": "nsmf",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-239f21.1",
                    "type": "synonym"
                }
            ],
            "record_id": "B8PYG1-1",
            "evidence": [
                {
                    "id": "0090085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090085"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32TGV5-1",
            "uniprot_ac": "A0AB32TGV5",
            "uniprot_id": "A0AB32TGV5_DANRE",
            "refseq_ac": "XP_068072115",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "NMDA receptor synaptonuclear signaling and neuronal migration factor-like isoform X4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nsmfa",
                    "type": "recommended"
                },
                {
                    "name": "nsmfa",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TGV5-1",
            "evidence": [
                {
                    "id": "0090085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090085"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99NF2-1",
            "uniprot_ac": "Q99NF2",
            "uniprot_id": "NSMF_MOUSE",
            "refseq_ac": "NP_001034475",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NMDA receptor synaptonuclear signaling and neuronal migration factor",
                    "type": "recommended"
                },
                {
                    "name": "Jacob protein",
                    "type": "synonym"
                },
                {
                    "name": "Juxtasynaptic attractor of caldendrin on dendritic boutons protein",
                    "type": "synonym"
                },
                {
                    "name": "NMDA receptor synaptonuclear signaling and neuronal migration factor isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Nasal embryonic LHRH factor",
                    "type": "synonym"
                },
                {
                    "name": "Nasal embryonic luteinizing hormone-releasing hormone factor",
                    "type": "synonym"
                },
                {
                    "name": "juxtasynaptic attractor of caldendrin on dendritic boutons protein",
                    "type": "synonym"
                },
                {
                    "name": "nasal embryonic LHRH factor",
                    "type": "synonym"
                },
                {
                    "name": "nasal embryonic luteinizing hormone-releasing hormone factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsmf",
                    "type": "recommended"
                },
                {
                    "name": "Jacob",
                    "type": "synonym"
                },
                {
                    "name": "Jac",
                    "type": "synonym"
                },
                {
                    "name": "Nelf",
                    "type": "synonym"
                },
                {
                    "name": "Nsmf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99NF2-1",
            "evidence": [
                {
                    "id": "0090085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090085"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6X4W1-1",
            "uniprot_ac": "Q6X4W1",
            "uniprot_id": "NSMF_HUMAN",
            "refseq_ac": "NP_001124441",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NMDA receptor synaptonuclear signaling and neuronal migration factor",
                    "type": "recommended"
                },
                {
                    "name": "NMDA receptor synaptonuclear signaling and neuronal migration factor isoform a",
                    "type": "synonym"
                },
                {
                    "name": "Nasal embryonic LHRH factor",
                    "type": "synonym"
                },
                {
                    "name": "Nasal embryonic luteinizing hormone-releasing hormone factor",
                    "type": "synonym"
                },
                {
                    "name": "nasal embryonic LHRH factor",
                    "type": "synonym"
                },
                {
                    "name": "nasal embryonic luteinizing hormone-releasing hormone factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NSMF",
                    "type": "recommended"
                },
                {
                    "name": "HH9",
                    "type": "synonym"
                },
                {
                    "name": "NELF",
                    "type": "synonym"
                },
                {
                    "name": "NSMF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6X4W1-1",
            "evidence": [
                {
                    "id": "614838",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614838"
                },
                {
                    "id": "0090085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090085"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EPI6-1",
            "uniprot_ac": "Q9EPI6",
            "uniprot_id": "NSMF_RAT",
            "refseq_ac": "NP_001257555",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NMDA receptor synaptonuclear signaling and neuronal migration factor",
                    "type": "recommended"
                },
                {
                    "name": "Jacob protein",
                    "type": "synonym"
                },
                {
                    "name": "Juxtasynaptic attractor of caldendrin on dendritic boutons protein",
                    "type": "synonym"
                },
                {
                    "name": "NMDA receptor synaptonuclear signaling and neuronal migration factor isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Nasal embryonic LHRH factor",
                    "type": "synonym"
                },
                {
                    "name": "Nasal embryonic luteinizing hormone-releasing hormone factor",
                    "type": "synonym"
                },
                {
                    "name": "juxtasynaptic attractor of caldendrin on dendritic boutons protein",
                    "type": "synonym"
                },
                {
                    "name": "nasal embryonic LHRH factor",
                    "type": "synonym"
                },
                {
                    "name": "nasal embryonic luteinizing hormone-releasing hormone factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsmf",
                    "type": "recommended"
                },
                {
                    "name": "Jacob",
                    "type": "synonym"
                },
                {
                    "name": "Jac",
                    "type": "synonym"
                },
                {
                    "name": "Nelf",
                    "type": "synonym"
                },
                {
                    "name": "Nsmf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EPI6-1",
            "evidence": [
                {
                    "id": "0090085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090085"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090085"
}