RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
FMPP; Familial Testotoxicosis; Gonadotrophin-Independent Precocious Puberty; Idiopathic sexual precocity; Precocious Pseudopuberty; Precocious puberty, male limited; familial gonadotrophin-independent sexual precocity; familial gonadotropin-independent male-limited sexual precocity; familial gonadotropin-independent sexual precocity; familial precocious puberty; pubertas praecox; sexual precocity; testotoxicosis
narrow_synonym:
LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY
ClinVar Annotator: match by term: Familial male-limited precocious puberty | ClinVar Annotator: match by term: Gonadotropin-independent familial sexual precocity | ClinVar Annotator: match by term: LHCGR-related condition CTD Direct Evidence: marker/mechanism