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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:Precocious Puberty
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Accession:DOID:9007284 term browser browse the term
Definition:Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE.
Synonyms:narrow_synonym: PERIPHERAL PRECOCIOUS PUBERTY
 primary_id: MESH:D011629
For additional species annotation, visit the Alliance of Genome Resources.



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Precocious Puberty term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Peripheral precocious puberty ClinVar NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:1594625 PMID:1944469 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18345393 NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21402727 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: Peripheral precocious puberty ClinVar NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Kiss1r KISS1 receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
JBrowse link
G Lepr leptin receptor ISO ClinVar Annotator: match by term: Peripheral precocious puberty ClinVar NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18345393 NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972
JBrowse link
G Mkrn3 makorin, ring finger protein, 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23738509 NCBI chr 1:115,926,774...115,929,286
Ensembl chr 1:115,926,776...115,929,283
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Peripheral precocious puberty ClinVar NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Peripheral precocious puberty ClinVar NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Precocious puberty ClinVar NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21402727 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
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: Precocious puberty, central, 1
ClinVar Annotator: match by term: Central precocious puberty
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
JBrowse link
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: Precocious puberty, central, 2
ClinVar Annotator: match by OMIM:615346
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
JBrowse link
familial male-limited precocious puberty term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inha inhibin subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16684832 NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
JBrowse link
G Inhbb inhibin subunit beta B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16684832 NCBI chr13:30,530,860...30,536,566
Ensembl chr13:30,530,860...30,537,832
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Pubertas Praecox
ClinVar Annotator: match by term: TESTOTOXICOSIS, FAMILIAL
ClinVar Annotator: match by term: Gonadotropin-independent familial sexual precocity
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:176410
OMIM
ClinVar
CTD
PMID:7527413 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7757065 More... NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by null ClinVar PMID:10580072 PMID:11857565 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
spondyloepimetaphyseal dysplasia, Pakistani type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type
ClinVar Annotator: match by OMIM:612847
OMIM
ClinVar
PMID:9536098 PMID:9714015 PMID:9771708 PMID:17576681 PMID:19474428 More... NCBI chr 1:230,454,314...230,539,332
Ensembl chr 1:230,454,426...230,539,331
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      endocrine system disease 5833
        gonadal disease 1031
          Precocious Puberty 17
            Congenital Adrenal Hypoplasia with Precocious Puberty 0
            Hypotonia, Seizures, and Precocious Puberty 0
            Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty 1
            Spastic Paraplegia with Precocious Puberty 0
            central precocious puberty + 2
            familial male-limited precocious puberty 3
            spondyloepimetaphyseal dysplasia, Pakistani type 1
paths to the root