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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:Delayed menarche
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Accession:HP:0012569 term browser browse the term
Definition:First period after the age of 15 years.
Synonyms:exact_synonym: Delayed start of first period
 xref: UMLS:C0949173



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Delayed menarche term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
JBrowse link
G CBL Cbl proto-oncogene IAGP HPO ORPHA:648 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G DNM1L dynamin 1 like IAGP HPO ORPHA:330050 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G FSHB follicle stimulating hormone subunit beta IAGP HPO ORPHA:52901 NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261
JBrowse link
G GHR growth hormone receptor IAGP HPO MIM:262500 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
JBrowse link
G HROB homologous recombination factor with OB-fold IAGP HPO MIM:620897 NCBI chr17:44,141,930...44,162,476
Ensembl chr17:44,141,906...44,162,476
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO ORPHA:648 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G MRAS muscle RAS oncogene homolog IAGP HPO ORPHA:648 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO MIM:614871 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO MIM:151100 ORPHA:648 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:648 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G RASA2 RAS p21 protein activator 2 IAGP HPO ORPHA:648 NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344
JBrowse link
G RIT1 Ras like without CAAX 1 IAGP HPO ORPHA:648 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404
JBrowse link
G RRAS RAS related IAGP HPO ORPHA:648 NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143
JBrowse link
G RRAS2 RAS related 2 IAGP HPO ORPHA:648 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506
JBrowse link
G SLC25A13 solute carrier family 25 member 13 IAGP HPO ORPHA:247585 NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP HPO ORPHA:648 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP HPO ORPHA:648 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578
JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO ORPHA:648 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637
JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP HPO ORPHA:412057 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Growth abnormality 3973
        Growth delay 2176
          Delayed puberty 215
            Delayed menarche 24
Path 2
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of the genitourinary system 10360
        Abnormality of the genital system 7909
          Abnormality of reproductive system physiology 2001
            Abnormal female reproductive system physiology 1448
              Abnormality of the menstrual cycle 685
                Delayed menarche 24
paths to the root