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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:Early young adult onset
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Accession:HP:0025708 term browser browse the term
Definition:Onset of disease at an age of greater than or equal to 16 to under 19 years.
Comment:This term includes the full 16th year of age up to the completed 18th year of age (i.e., less than the 19th birthday).


show annotations for term's descendants           Sort by:
Early young adult onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG10B ALG10 alpha-1,2-glucosyltransferase B IAGP HPO MIM:613688 NCBI chr12:38,316,687...38,329,721
Ensembl chr12:38,316,762...38,329,721 		JBrowse link
G B2M beta-2-microglobulin IAGP HPO MIM:241600 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 IAGP HPO MIM:609195 NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239 		JBrowse link
G CARD9 caspase recruitment domain family member 9 IAGP HPO MIM:212050 NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681 		JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon IAGP HPO MIM:260570 NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256 		JBrowse link
G CLCN1 chloride voltage-gated channel 1 IAGP HPO MIM:160800 NCBI chr 7:143,316,111...143,352,083
Ensembl chr 7:143,316,111...143,352,083 		JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 IAGP HPO MIM:616418 NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:608805 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G DGKE diacylglycerol kinase epsilon IAGP HPO MIM:615008 NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567 		JBrowse link
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 IAGP HPO MIM:616192 NCBI chr13:95,677,139...95,794,988
Ensembl chr13:95,677,139...95,794,988 		JBrowse link
G DSP desmoplakin IAGP HPO MIM:607450 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 IAGP HPO MIM:619687 NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522 		JBrowse link
G ERCC6L2 ERCC excision repair 6 like 2 IAGP HPO MIM:615715 NCBI chr 9:95,875,691...96,041,092
Ensembl chr 9:95,871,264...96,121,154 		JBrowse link
G ESR2 estrogen receptor 2 IAGP HPO MIM:618187 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 IAGP HPO MIM:615947 NCBI chr 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO MIM:613507 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP HPO MIM:163800 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO MIM:616544 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP HPO MIM:600142 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G INS insulin IAGP HPO MIM:125852 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G KASH5 KASH domain containing 5 IAGP HPO MIM:620548 NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 IAGP HPO MIM:612240 NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP HPO MIM:613695 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP HPO MIM:613688 NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO MIM:170390 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO MIM:613485 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 IAGP HPO MIM:616398 NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390 		JBrowse link
G LHB luteinizing hormone subunit beta IAGP HPO MIM:228300 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091 		JBrowse link
G LIG3 DNA ligase 3 IAGP HPO MIM:619780 NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:181350 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G NRCAM neuronal cell adhesion molecule IAGP HPO MIM:619833 NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717 		JBrowse link
G P2RX2 purinergic receptor P2X 2 IAGP HPO MIM:608224 NCBI chr12:132,618,776...132,622,388
Ensembl chr12:132,618,776...132,622,388 		JBrowse link
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 IAGP HPO MIM:615217 NCBI chr17:8,878,916...8,965,707
Ensembl chr17:8,878,911...8,965,712 		JBrowse link
G PMP2 peripheral myelin protein 2 IAGP HPO MIM:618279 NCBI chr 8:81,440,326...81,447,439
Ensembl chr 8:81,440,326...81,447,439 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:607459 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POPDC1 popeye domain cAMP effector 1 IAGP HPO MIM:616812 NCBI chr 6:105,096,822...105,137,157
Ensembl chr 6:105,096,822...105,137,157 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO MIM:600116 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP HPO MIM:612067 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO MIM:602066 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO MIM:614751 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G REEP6 receptor accessory protein 6 IAGP HPO MIM:617304 NCBI chr19:1,491,181...1,497,927
Ensembl chr19:1,491,166...1,497,927 		JBrowse link
G RNF216 ring finger protein 216 IAGP HPO MIM:212840 NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696 		JBrowse link
G RRAGD Ras related GTP binding D IAGP HPO MIM:620152 NCBI chr 6:89,364,616...89,412,273
Ensembl chr 6:89,364,616...89,412,273 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO MIM:254900 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SELENBP1 selenium binding protein 1 IAGP HPO MIM:618148 NCBI chr 1:151,364,304...151,372,705
Ensembl chr 1:151,364,304...151,372,707 		JBrowse link
G SEMA3A semaphorin 3A IAGP HPO MIM:614897 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP HPO MIM:613490 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SLC4A4 solute carrier family 4 member 4 IAGP HPO MIM:604278 NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087 		JBrowse link
G SMN1 survival of motor neuron 1, telomeric IAGP HPO MIM:253400 NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942 		JBrowse link
G SMN2 survival of motor neuron 2, centromeric IAGP HPO MIM:253400 NCBI chr 5:70,049,523...70,090,528
Ensembl chr 5:70,049,638...70,078,522
Ensembl chr 5:70,049,638...70,078,522 		JBrowse link
G SNTA1 syntrophin alpha 1 IAGP HPO MIM:612955 NCBI chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO MIM:617690 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO MIM:620285 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO MIM:614162 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G TLR7 toll like receptor 7 IAGP HPO MIM:301080 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361 		JBrowse link
G TLR8 toll like receptor 8 IAGP HPO MIM:301078 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169 		JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 IAGP HPO MIM:617072 NCBI chr 1:179,882,285...179,920,076
Ensembl chr 1:179,882,042...179,920,077 		JBrowse link
G TPP1 tripeptidyl peptidase 1 IAGP HPO MIM:609270 NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448 		JBrowse link
G TRNT1 tRNA nucleotidyl transferase 1 IAGP HPO MIM:616959 NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435 		JBrowse link
G TTN titin IAGP HPO MIM:608807 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO MIM:607459 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G UNC13D unc-13 homolog D IAGP HPO MIM:608898 NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO MIM:158330 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Clinical modifier 3628
      Clinical course 3580
        Onset 3396
          Adult onset 903
            Young adult onset 607
              Early young adult onset 63
paths to the root