{
    "disease_id": "DOID:0111545",
    "recommended_name": {
        "id": "DOID:0111545",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111545",
        "name": "familial male-limited precocious puberty",
        "description": "An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in the LHCGR gene on chromosome 2p16.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111545",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111545",
            "name": "FMPP",
            "description": ""
        },
        {
            "id": "DOID:0111545",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111545",
            "name": "male-limited precocious puberty",
            "description": ""
        },
        {
            "id": "DOID:0111545",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111545",
            "name": "testotoxicosis",
            "description": ""
        },
        {
            "id": "DOID:0111545",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111545",
            "name": "familial gonadotropin-independent male-limited sexual precocity",
            "description": ""
        },
        {
            "id": "MONDO:0008303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008303",
            "name": "familial male-limited precocious puberty",
            "description": "Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height."
        },
        {
            "id": "MONDO:0008303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008303",
            "name": "pubertas praecox",
            "description": ""
        },
        {
            "id": "MONDO:0008303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008303",
            "name": "FMPP",
            "description": ""
        },
        {
            "id": "MONDO:0008303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008303",
            "name": "LHCGR peripheral precocious puberty",
            "description": ""
        },
        {
            "id": "MONDO:0008303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008303",
            "name": "familial gonadotropin-independent male-limited sexual precocity",
            "description": ""
        },
        {
            "id": "MONDO:0008303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008303",
            "name": "leydig cell adenoma, somatic, with precocious puberty",
            "description": ""
        },
        {
            "id": "MONDO:0008303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008303",
            "name": "male-limited precocious puberty",
            "description": ""
        },
        {
            "id": "MONDO:0008303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008303",
            "name": "peripheral precocious puberty caused by mutation in LHCGR",
            "description": ""
        },
        {
            "id": "MONDO:0008303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008303",
            "name": "precocious puberty, male",
            "description": ""
        },
        {
            "id": "MONDO:0008303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008303",
            "name": "testotoxicosis",
            "description": ""
        },
        {
            "id": "MONDO:0008303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008303",
            "name": "testotoxicosis, familial",
            "description": ""
        },
        {
            "id": "MONDO:0008303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008303",
            "name": "familial Testotoxicosis (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0008303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008303",
            "name": "precocious puberty, male limited",
            "description": ""
        },
        {
            "id": "MIM:176410",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/176410",
            "name": "Familial male precocious puberty",
            "description": "Familial male precocious puberty"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111545"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111545",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111545",
            "categories": []
        },
        {
            "id": "MONDO:0008303",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008303",
            "categories": []
        },
        {
            "id": "MIM:176410",
            "database": "MIM",
            "url": "https://www.omim.org/entry/176410",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P30730-1",
            "uniprot_ac": "P30730",
            "uniprot_id": "LSHR_MOUSE",
            "refseq_ac": "NP_038610",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lutropin-choriogonadotropic hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "LH/CG-R",
                    "type": "synonym"
                },
                {
                    "name": "LSH-R",
                    "type": "synonym"
                },
                {
                    "name": "Luteinizing hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "lutropin-choriogonadotropic hormone receptor isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "lutropin-choriogonadotropic hormone receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lhcgr",
                    "type": "recommended"
                },
                {
                    "name": "Gpcr19-rs1",
                    "type": "synonym"
                },
                {
                    "name": "LH-R",
                    "type": "synonym"
                },
                {
                    "name": "LH/CG-R",
                    "type": "synonym"
                },
                {
                    "name": "LSH-R",
                    "type": "synonym"
                },
                {
                    "name": "Lhcgr",
                    "type": "synonym"
                },
                {
                    "name": "Lhr",
                    "type": "synonym"
                }
            ],
            "record_id": "P30730-1",
            "evidence": [
                {
                    "id": "0111545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22888-1",
            "uniprot_ac": "P22888",
            "uniprot_id": "LSHR_HUMAN",
            "refseq_ac": "NP_000224",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lutropin-choriogonadotropic hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "LH/CG-R",
                    "type": "synonym"
                },
                {
                    "name": "LHR",
                    "type": "synonym"
                },
                {
                    "name": "LSH-R",
                    "type": "synonym"
                },
                {
                    "name": "Luteinizing hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "hypergonadotropic hypogonadism",
                    "type": "synonym"
                },
                {
                    "name": "lutropin-choriogonadotropic hormone receptor isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "lutropin-choriogonadotropic hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "lutropin/choriogonadotropin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LHCGR",
                    "type": "recommended"
                },
                {
                    "name": "HHG",
                    "type": "synonym"
                },
                {
                    "name": "LCGR",
                    "type": "synonym"
                },
                {
                    "name": "LGR2",
                    "type": "synonym"
                },
                {
                    "name": "LH/CG-R",
                    "type": "synonym"
                },
                {
                    "name": "LH/CGR",
                    "type": "synonym"
                },
                {
                    "name": "LHCGR",
                    "type": "synonym"
                },
                {
                    "name": "LHRHR",
                    "type": "synonym"
                },
                {
                    "name": "LHR",
                    "type": "synonym"
                },
                {
                    "name": "LSH-R",
                    "type": "synonym"
                },
                {
                    "name": "ULG5",
                    "type": "synonym"
                }
            ],
            "record_id": "P22888-1",
            "evidence": [
                {
                    "id": "176410",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/176410"
                },
                {
                    "id": "0111545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16235-1",
            "uniprot_ac": "P16235",
            "uniprot_id": "LSHR_RAT",
            "refseq_ac": "NP_037110",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lutropin-choriogonadotropic hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "LH receptor",
                    "type": "synonym"
                },
                {
                    "name": "LH/CG receptor",
                    "type": "synonym"
                },
                {
                    "name": "LH/CG-R",
                    "type": "synonym"
                },
                {
                    "name": "LSH-R",
                    "type": "synonym"
                },
                {
                    "name": "Luteinizing hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "luteinizing hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "luteinizing hormone/chorionic gonadotropin receptor",
                    "type": "synonym"
                },
                {
                    "name": "lutropin-choriogonadotropic hormone receptor isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "lutropin-choriogonadotropic hormone receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lhcgr",
                    "type": "recommended"
                },
                {
                    "name": "LH/CG-R",
                    "type": "synonym"
                },
                {
                    "name": "LHCGR",
                    "type": "synonym"
                },
                {
                    "name": "LSH-R",
                    "type": "synonym"
                },
                {
                    "name": "LSHR",
                    "type": "synonym"
                },
                {
                    "name": "Lhcgr",
                    "type": "synonym"
                },
                {
                    "name": "Lhr",
                    "type": "synonym"
                }
            ],
            "record_id": "P16235-1",
            "evidence": [
                {
                    "id": "0111545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEG4-1",
            "uniprot_ac": "Q9VEG4",
            "uniprot_id": "Q9VEG4_DROME",
            "refseq_ac": "NP_524393",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7665-PA",
                    "type": "synonym"
                },
                {
                    "name": "Fsh-Tsh-like receptor",
                    "type": "synonym"
                },
                {
                    "name": "Leu-rich repeats-containing G protein-coupled receptor",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat-containing G protein-coupled receptor 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat-containing G protein-coupled receptor 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Lgr1-PA",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein A2/Glycoprotein B5 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lgr1",
                    "type": "recommended"
                },
                {
                    "name": "CG receptor",
                    "type": "synonym"
                },
                {
                    "name": "CG7665",
                    "type": "synonym"
                },
                {
                    "name": "DLGR-1",
                    "type": "synonym"
                },
                {
                    "name": "DLGR1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7665",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7665",
                    "type": "synonym"
                },
                {
                    "name": "FSH-TSH",
                    "type": "synonym"
                },
                {
                    "name": "FSH",
                    "type": "synonym"
                },
                {
                    "name": "Fsh R",
                    "type": "synonym"
                },
                {
                    "name": "Fsh/CG7665",
                    "type": "synonym"
                },
                {
                    "name": "Fsh",
                    "type": "synonym"
                },
                {
                    "name": "LGR1",
                    "type": "synonym"
                },
                {
                    "name": "LH/CG receptor",
                    "type": "synonym"
                },
                {
                    "name": "Lgr1",
                    "type": "synonym"
                },
                {
                    "name": "RH44949p",
                    "type": "synonym"
                },
                {
                    "name": "TSH",
                    "type": "synonym"
                },
                {
                    "name": "dLGR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEG4-1",
            "evidence": [
                {
                    "id": "0111545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P2X0-1",
            "uniprot_ac": "Q9P2X0",
            "uniprot_id": "DPM3_HUMAN",
            "refseq_ac": "NP_061846",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichol-phosphate mannosyltransferase subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "DPM synthase complex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "DPM synthase subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Dolichol-phosphate mannose synthase subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate beta-D-mannosyltransferase subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "MPD synthase subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Mannose-P-dolichol synthase subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Prostin-1",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate mannose synthase subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate mannosyltransferase subunit 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate mannosyltransferase subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate beta-D-mannosyltransferase subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate mannosyltransferase polypeptide 3",
                    "type": "synonym"
                },
                {
                    "name": "mannose-P-dolichol synthase subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "prostin 1",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 58",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPM3",
                    "type": "recommended"
                },
                {
                    "name": "CDG1O",
                    "type": "synonym"
                },
                {
                    "name": "DPM3",
                    "type": "synonym"
                },
                {
                    "name": "MDDGB15",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P2X0-1",
            "evidence": [
                {
                    "id": "0111545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111545"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111545"
}
