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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.
Term:familial male-limited precocious puberty
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Accession:DOID:0111545 term browser browse the term
Definition: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
 primary_id: MESH:C536961;   MESH:C538542
 alt_id: OMIM:176410
 xref: GARD:4475;   NCI:C113219;   ORDO:3000


show annotations for term's descendants           Sort by:
familial male-limited precocious puberty term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inha inhibin subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16684832 NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248 		JBrowse link
G Inhbb inhibin subunit beta B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16684832 NCBI chr13:30,530,860...30,536,566
Ensembl chr13:30,530,860...30,537,832 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial male-limited precocious puberty | ClinVar Annotator: match by term: Gonadotropin-independent familial sexual precocity		 OMIM
CTD
ClinVar		 PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7692306 More... NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Familial precocious puberty ClinVar PMID:25741868 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      endocrine system disease 6819
        gonadal disease 1212
          Precocious Puberty 18
            familial male-limited precocious puberty 4
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            autosomal genetic disease 9577
              autosomal dominant disease 6310
                familial male-limited precocious puberty 4
paths to the root