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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:Self-Limited Delayed Puberty
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Accession:DOID:9005231 term browser browse the term
Definition:This is a disease characterized by delayed development of Tanner stage G2 accompanied by low serum gonadotropins. Affected individuals experience spontaneous attainment of Tanner stage G4 by 18 years of age, with normalization of gonadotropins, which excludes a diagnosis of hypogonadotropic hypogonadism.
Synonyms:exact_synonym: CONSTITUTIONAL DELAY OF PUBERTY;   DPSL;   LGR4-RELATED CONDITION
 primary_id: MIM:619613



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Self-Limited Delayed Puberty term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 susceptibility ISO ClinVar Annotator: match by term: Delayed puberty, self-limited | ClinVar Annotator: match by term: LGR4-related condition ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:32493844 NCBI chr 3:116,901,968...117,004,584 JBrowse link
G Sema6a semaphorin 6A ISO ClinVar Annotator: match by term: Delayed puberty, self-limited ClinVar NCBI chr18:40,050,623...40,171,954 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      endocrine system disease 7037
        gonadal disease 1390
          Delayed Puberty 16
            Self-Limited Delayed Puberty 2
paths to the root