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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 2
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Accession:DOID:0112309 term browser browse the term
Definition:A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of MKRN3 chromosome 15q11.2. (DO)
Synonyms:exact_synonym: CPPB2
 primary_id: OMIM:615346
 alt_id: DOID:9005385
For additional species annotation, visit the Alliance of Genome Resources.


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central precocious puberty 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mkrn3 makorin, ring finger protein, 3 ISO ClinVar Annotator: match by OMIM:615346
ClinVar Annotator: match by term: Precocious puberty, central, 2
OMIM
ClinVar
PMID:23738509 PMID:25741868 PMID:26431553 PMID:28672280 NCBI chr 1:115,926,774...115,929,286
Ensembl chr 1:115,926,776...115,929,283
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      endocrine system disease 5808
        gonadal disease 1021
          Precocious Puberty 17
            central precocious puberty 2
              central precocious puberty 2 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                central precocious puberty 2 1
paths to the root