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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Precocious puberty in males
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Accession:HP:0008185 term browser browse the term
Definition:The onset of puberty before the age of 9 years in boys.
Synonyms:exact_synonym: Early onset of puberty in males;   Male precocious puberty
 xref: UMLS:C1859979


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Precocious puberty in males term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP HPO OMIM:202010 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
JBrowse link
G H LHCGR luteinizing hormone/choriogonadotropin receptor IAGP ClinVar Annotator: match by term: Precocious puberty in males ClinVar
HPO
PMID:7527413 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7757065 More... OMIM:176410 NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730
JBrowse link
G H STON1-GTF2A1L STON1-GTF2A1L readthrough IAGP ClinVar Annotator: match by term: Precocious puberty in males ClinVar PMID:7527413 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7757065 More... NCBI chr 2:48,529,925...48,776,519
Ensembl chr 2:48,529,925...48,776,517
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the endocrine system 2652
        Puberty and gonadal disorders 675
          Early onset of sexual maturation 184
            Precocious puberty 182
              Precocious puberty in males 3
paths to the root