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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:Delayed Puberty
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Accession:DOID:9001239 term browser browse the term
Definition:The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not.
Synonyms:primary_id: MESH:D011628


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Delayed Puberty term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25462787 NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:20002962 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:12627230 PMID:16606836 PMID:17200176 PMID:25636053 PMID:25741868 More... NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:25636053 NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:14762184 PMID:17726072 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:23643382 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556 		JBrowse link
G Kiss1 KiSS-1 metastasis-suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21527035 NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612 		JBrowse link
G Kiss1r KISS1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21527035 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 CTD Direct Evidence: marker/mechanism CTD PMID:17229951 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:15602022 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 Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:25636053 PMID:28492532 NCBI chr 4:21,282,398...21,754,834
Ensembl chr 4:21,287,982...21,494,432 		JBrowse link
G Tac3 tachykinin precursor 3 ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:25636053 PMID:28492532 PMID:29419413 NCBI chr 7:63,562,552...63,569,170
Ensembl chr 7:63,562,552...63,569,170 		JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:25636053 NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791 		JBrowse link
G Wfdc17 WAP four-disulfide core domain 17 ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:8504298 PMID:11297579 PMID:23643382 PMID:25636053 PMID:28492532 More... NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801 		JBrowse link
Self-Limited Delayed Puberty term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 susceptibility ISO ClinVar Annotator: match by term: Delayed puberty, self-limited | ClinVar Annotator: match by term: LGR4-related condition ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:32493844 NCBI chr 3:96,447,385...96,550,006
Ensembl chr 3:96,447,858...96,548,899 		JBrowse link
G Sema6a semaphorin 6A ISO ClinVar Annotator: match by term: Delayed puberty, self-limited ClinVar NCBI chr18:40,050,623...40,171,954
Ensembl chr18:40,050,624...40,171,954 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      endocrine system disease 7033
        gonadal disease 1388
          Delayed Puberty 16
            Cantu Sanchez-Corona Fragoso Syndrome 0
            Self-Limited Delayed Puberty 2
paths to the root