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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
 broad_synonym: LHCGR-RELATED CONDITION
 primary_id: MESH:C536961;   MESH:C538542
 alt_id: MIM: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 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
OMIM
ClinVar
CTD
PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7629248 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 19141
    disease of anatomical entity 18453
      endocrine system disease 7037
        gonadal disease 1390
          Precocious Puberty 18
            familial male-limited precocious puberty 4
Path 2
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        genetic disease 13381
          monogenic disease 10935
            autosomal genetic disease 10425
              autosomal dominant disease 6779
                familial male-limited precocious puberty 4
paths to the root