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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:central precocious puberty 1
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Accession:DOID:0112310 term browser browse the term
Definition:A central precocious puberty that has_material_basis_in heterozygous mutation in KISS1R on chromosome 19p13. (DO)
Synonyms:exact_synonym: CPPB1
 primary_id: MESH:C562787
 alt_id: DOID:9006905;   OMIM:176400
For additional species annotation, visit the Alliance of Genome Resources.



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central precocious puberty 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Central precocious puberty
ClinVar Annotator: match by term: Precocious puberty, central, 1
OMIM
ClinVar
PMID:17164310 PMID:18272894 PMID:23349759 PMID:25741868 PMID:28492532 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      endocrine system disease 5840
        gonadal disease 1032
          Precocious Puberty 17
            central precocious puberty 2
              central precocious puberty 1 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                central precocious puberty 1 1
paths to the root