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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 the KISS1R gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: CPPB1
 primary_id: MESH:C562787
 alt_id: DOID:9006905;   OMIM:176400


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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 IAGP ClinVar Annotator: match by term: Precocious puberty, central, 1 OMIM
ClinVar		 PMID:17164310 PMID:18272894 PMID:23349759 PMID:25741868 PMID:26467025 More... NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      endocrine system disease 7704
        gonadal disease 1379
          Precocious Puberty 20
            central precocious puberty 3
              central precocious puberty 1 1
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18511
            autosomal genetic disease 16781
              autosomal dominant disease 10884
                central precocious puberty 1 1
paths to the root