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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
 alt_id: RDO:0000770
For additional species annotation, visit the Alliance of Genome Resources.


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Delayed Puberty term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anos1 anosmin 1 ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:25636053 Ensembl chr10:70,999,780...71,000,627 JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25462787 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:20002962 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
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 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:25636053 NCBI chr14:23,480,462...23,498,450
Ensembl chr14:23,480,462...23,498,450
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 chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:23643382 PMID:25636053 NCBI chr16:2,670,471...2,737,271
Ensembl chr16:2,670,618...2,731,808
JBrowse link
G Kiss1 KiSS-1 metastasis-suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21527035 NCBI chr13:50,529,506...50,537,603
Ensembl chr13:50,529,510...50,535,389
JBrowse link
G Kiss1r KISS1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21527035 NCBI chr 7:12,606,210...12,609,868
Ensembl chr 7:12,606,210...12,609,868
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17229951 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15602022 NCBI chr 1:101,409,992...101,413,725
Ensembl chr 1:101,410,019...101,413,724
JBrowse link
G Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:25636053 PMID:28492532 NCBI chr 4:18,170,375...18,545,190
Ensembl chr 4:18,178,656...18,396,035
JBrowse link
G Tac3 tachykinin precursor 3 ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:25636053 NCBI chr 7:71,023,976...71,030,582
Ensembl chr 7:71,023,976...71,030,582
JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:25636053 NCBI chr 2:240,021,152...240,118,971
Ensembl chr 2:240,021,152...240,118,971
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      endocrine system disease 5010
        gonadal disease 917
          Delayed Puberty 14
            Cantu Sanchez-Corona Fragoso Syndrome 0
paths to the root