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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 the MKRN3 gene on chromosome 15q11.2. (DO)
Synonyms:exact_synonym: CPPB2;   MKRN3-RELATED CONDITION
 primary_id: OMIM:615346
 alt_id: DOID:9005385

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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 term: MKRN3-related condition | ClinVar Annotator: match by term: Precocious puberty, central, 2 OMIM
ClinVar		 PMID:23738509 PMID:25741868 PMID:26431553 PMID:28492532 PMID:28672280 NCBI chrNW_004936805:933,791...936,023
Ensembl chrNW_004936805:933,725...936,043 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14499
    disease of anatomical entity 14148
      endocrine system disease 5650
        gonadal disease 1144
          Precocious Puberty 17
            central precocious puberty 3
              central precocious puberty 2 1
Path 2
Term Annotations click to browse term
  disease 14499
    Developmental Disease 12616
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11821
        genetic disease 11504
          monogenic disease 9655
            autosomal genetic disease 8942
              autosomal dominant disease 5891
                central precocious puberty 2 1
paths to the root