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ONTOLOGY REPORT - ANNOTATIONS


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 LHCGR on chromosome 2p16.3. (DO)
Synonyms:exact_synonym: FMPP;   Familial Gonadotrophin-Independent Sexual Precocity;   Familial Testotoxicosis;   Familial precocious puberty;   Gonadotrophin-Independent Precocious Puberty;   Idiopathic sexual precocity;   Precocious Pseudopuberty;   Precocious puberty, male limited;   Pubertas Praecox;   Sexual Precocity;   Sexual precocity, familial, gonadotropin-independent;   Testotoxicosis;   familial gonadotropin-independent male-limited sexual precocity
 narrow_synonym: LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY
 primary_id: MESH:C536961;   MESH:C538542
 alt_id: DOID:9001257;   DOID:9002386;   OMIM:176410
 xref: GARD:4475;   ORDO:3000
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familial male-limited precocious puberty term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inha inhibin subunit alpha JBrowse link 9 82,700,482 82,703,383 RGD:11554173
G Inhbb inhibin subunit beta B JBrowse link 13 35,436,532 35,442,222 RGD:11554173
G Lhcgr luteinizing hormone/choriogonadotropin receptor JBrowse link 6 12,493,182 12,554,482 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      endocrine system disease 4819
        gonadal disease 858
          Precocious Puberty 12
            familial male-limited precocious puberty 3
Path 2
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        genetic disease 7157
          monogenic disease 4798
            autosomal genetic disease 3774
              autosomal dominant disease 2239
                familial male-limited precocious puberty 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.