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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

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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 chrNW_004936572:6,176,267...6,268,885
Ensembl chrNW_004936572:6,176,255...6,272,260 		JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18345393 NCBI chrNW_004936757:1,282,185...1,285,804
Ensembl chrNW_004936757:1,282,185...1,285,832 		JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21402727 NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351 		JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: Peripheral precocious puberty ClinVar NCBI chrNW_004936502:10,980,303...11,196,711
Ensembl chrNW_004936502:10,980,118...11,196,163 		JBrowse link
G Kiss1r KISS1 receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936588:384,195...387,625
Ensembl chrNW_004936588:384,195...386,820 		JBrowse link
G Lepr leptin receptor ISO ClinVar Annotator: match by term: Peripheral precocious puberty ClinVar NCBI chrNW_004936591:5,771,371...5,846,177
Ensembl chrNW_004936591:5,774,326...5,836,444 		JBrowse link
G LOC101971027 neuroendocrine secretory protein 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1594625 PMID:1944469 NCBI chrNW_004936530:1,353,432...1,407,437 JBrowse link
G Mkrn3 makorin ring finger protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23738509 NCBI chrNW_004936805:933,791...936,023
Ensembl chrNW_004936805:933,725...936,043 		JBrowse link
G Ofd1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Peripheral precocious puberty ClinVar NCBI chrNW_004936470:3,292,961...3,331,915
Ensembl chrNW_004936470:3,292,249...3,331,800 		JBrowse link
G Pnpla6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Peripheral precocious puberty ClinVar NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Precocious puberty ClinVar PMID:25741868 NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21402727 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
central precocious puberty term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlk1 delta like non-canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Central precocious puberty ClinVar NCBI chrNW_004936604:4,504,519...4,511,897
Ensembl chrNW_004936604:4,504,503...4,511,910 		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 OMIM
ClinVar		 PMID:17164310 PMID:18272894 PMID:23349759 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936588:384,195...387,625
Ensembl chrNW_004936588:384,195...386,820 		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: 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
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 chrNW_004936569:1,949,747...1,954,179
Ensembl chrNW_004936569:1,950,297...1,954,165 		JBrowse link
G Inhbb inhibin subunit beta B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16684832 NCBI chrNW_004936469:50,186,036...50,191,455
Ensembl chrNW_004936469:50,186,036...50,191,461 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Familial male-limited precocious puberty | ClinVar Annotator: match by term: Gonadotropin-independent familial sexual precocity OMIM
ClinVar		 PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7692306 More... NCBI chrNW_004936508:3,928,467...3,983,481
Ensembl chrNW_004936508:3,928,466...3,983,890 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Familial precocious puberty ClinVar PMID:25741868 NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476 		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 term: Leydig cell adenoma, somatic, with male-limited precocious puberty ClinVar PMID:10580072 PMID:11857565 NCBI chrNW_004936508:3,928,467...3,983,481
Ensembl chrNW_004936508:3,928,466...3,983,890 		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: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type OMIM
ClinVar		 PMID:9536098 PMID:9714015 PMID:9771708 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936735:1,437,108...1,516,382
Ensembl chrNW_004936735:1,436,153...1,516,378 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      endocrine system disease 5607
        gonadal disease 1141
          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 + 3
            familial male-limited precocious puberty 4
            spondyloepimetaphyseal dysplasia, Pakistani type 1
paths to the root