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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:cryptorchidism
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Accession:DOID:11383 term browser browse the term
Definition:A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis.
Synonyms:exact_synonym: Abdominal Cryptorchidism;   Bilateral Cryptorchidism;   Cryptorchidism, Unilateral Or Bilateral;   Cryptorchism;   Inguinal Cryptorchidism;   Undescended Testes;   Undescended Testis;   Unilateral Cryptorchidism;   undescended testicle;   undescended testicles
 primary_id: MESH:D003456
 alt_id: OMIM:219050
 xref: EFO:0004562;   ICD10CM:Q53.9;   ICD9CM:752.51;   NCI:C12326
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
cryptorchidism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 IAGP ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 ISO RGD PMID:32037220 PMID:24983376 RGD:38548917, RGD:13434925 NCBI chr 5:5,140,330...5,320,304
Ensembl chr 5:5,140,330...5,320,304 		JBrowse link
G ANXA5 annexin A5 ISO protein:increased expression: seminiferous tubulle RGD PMID:19376566 RGD:10053693 NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995 		JBrowse link
G AR androgen receptor IAGP DNA:repeats:exon RGD PMID:15472213 PMID:15757859 RGD:1578685, RGD:11576231 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G ATRX ATRX chromatin remodeler EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: undescended testicle		 CTD
ClinVar		 PMID:7697714 PMID:19291773 PMID:24690944 PMID:25741868 PMID:28371217 More... NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BCL2L1 BCL2 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989 		JBrowse link
G BTD biotinidase IAGP ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr 3:15,601,361...15,722,516
Ensembl chr 3:15,601,341...15,722,311 		JBrowse link
G CASP3 caspase 3 EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26050606 PMID:29606031 RGD:13792609 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062 		JBrowse link
G CBL Cbl proto-oncogene EXP CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CFTR CF transmembrane conductance regulator ISO mRNA, protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22077972 NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452 		JBrowse link
G ESR1 estrogen receptor 1 ISO mRNA:decreased expression:testis RGD PMID:20951417 RGD:8553220 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:29606031 RGD:13792609 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO protein:decreased expression:male germ cell: RGD PMID:17918708 RGD:9685739 NCBI chr16:1,984,193...1,987,749
Ensembl chr16:1,984,193...1,987,749 		JBrowse link
G GPX4 glutathione peroxidase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G HOXD13 homeobox D13 IAGP DNA:splice-site mutation:exon:180A>G (human) RGD PMID:17216618 RGD:12743597 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035 		JBrowse link
G HSF1 heat shock transcription factor 1 ISO protein:increased expression:testis, spermatocyte, nucleus (rat) RGD PMID:21480429 RGD:10402945 NCBI chr 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO RGD PMID:16563141 RGD:10402928 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO protein:decreased expression:testis (rat) RGD PMID:7473418 RGD:12904727 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G INSL3 insulin like 3 IAGP
ISS
EXP		 idiopathic cryptorchidism, OMIM:219050 DNA:point_mutation:CDS:C2560G, amino acid N86K
ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:11095425 PMID:11746019 PMID:12601553 PMID:12970298 PMID:14687758 More... RGD:1600162 NCBI chr19:17,816,512...17,821,519
Ensembl chr19:17,816,512...17,821,574 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KDM5A lysine demethylase 5A ISO mRNA:increased expression:testes (rat) RGD PMID:24679876 RGD:9588526 NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320 		JBrowse link
G KISS1R KISS1 receptor IAGP ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:15598687 PMID:28492532 PMID:29452377 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G LOC126862264 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521 IAGP ClinVar Annotator: match by term: undescended testicle ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr16:3,243,322...3,244,521 JBrowse link
G LSM1 LSM1 homolog, mRNA degradation associated IAGP ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 PMID:31010896 NCBI chr 8:38,163,321...38,176,730
Ensembl chr 8:38,163,335...38,176,730 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP ClinVar Annotator: match by term: Cryptorchidism
ClinVar Annotator: match by term: undescended testicle		 ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid IAGP ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968 		JBrowse link
G MSX1 msh homeobox 1 ISO RGD PMID:18222913 RGD:5132606 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G NGF nerve growth factor ISO mRNA,protein:decreased expression:testis RGD PMID:22490502 RGD:402463952 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:25741868 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G RXFP2 relaxin family peptide receptor 2 IAGP bilateral cryptorchidism, OMIM:219050 DNA:point_mutation:CDS:A664C, amino acid T222P
ClinVar Annotator: match by term: Bilateral cryptorchidism
ClinVar Annotator: match by term: Cryptorchidism		 ClinVar
RGD		 PMID:12217959 PMID:12970298 PMID:20636340 PMID:25741868 PMID:12217959 RGD:1600187 NCBI chr13:31,739,526...31,803,389
Ensembl chr13:31,739,526...31,803,389 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 PMID:28067909 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP ClinVar Annotator: match by term: undescended testicle ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G STS steroid sulfatase ISO protein:increased expression:scrotum, testis RGD PMID:2576297 RGD:1601402 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 ISO DNA:deletion:exon: RGD PMID:26502805 RGD:12911229 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 PMID:28492532 PMID:30564332 PMID:30755392 PMID:35773235 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP ClinVar Annotator: match by term: undescended testicle ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:18954413 PMID:24860126 PMID:25741868 PMID:28492532 PMID:30744660 More... NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080 		JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COLEC11 collectin subfamily member 11 IAGP
EXP		 ClinVar Annotator: match by term: 3MC syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More... NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644 		JBrowse link
G MASP1 MBL associated serine protease 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,898...100,110,345 		JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator IAGP ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 PMID:26374271 PMID:29619239 PMID:30006060 PMID:30426380 More... NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,077...112,657,696 		JBrowse link
G TAF6 TATA-box binding protein associated factor 6 IAGP
EXP		 ClinVar Annotator: match by term: Alazami-Yuan syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:25741913 More... NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841 		JBrowse link
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBLN1 fibulin 1 IAGP ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects ClinVar PMID:24084572 NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135 		JBrowse link
frontonasal dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX4 ALX homeobox 4 IAGP ClinVar Annotator: match by term: Frontonasal dysplasia 2 ClinVar
OMIM		 PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130006029 ATAC-STARR-seq lymphoblastoid silent region 3532 IAGP ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease ClinVar PMID:29625025 NCBI chr11:65,546,311...65,546,580 JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease ClinVar PMID:25741868 PMID:29625025 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G SMAD4 SMAD family member 4 IAGP
EXP		 DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human)
ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Myhre syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:7296942 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 More... RGD:12880042 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
Skeletal Defects, Genital Hypoplasia, And Mental Retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZBTB16 zinc finger and BTB domain containing 16 IAGP ClinVar Annotator: match by term: Skeletal defects, genital hypoplasia, and mental retardation ClinVar PMID:11891687 PMID:18611983 NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765 		JBrowse link
Testicular Anomalies with or without Congenital Heart Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA4 GATA binding protein 4 IAGP
EXP		 ClinVar Annotator: match by term: Testicular anomalies with or without congenital heart disease
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:15863664 PMID:17576681 PMID:17643447 PMID:18672102 More... NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      endocrine system disease 7704
        gonadal disease 1379
          disorder of sexual development 287
            cryptorchidism 57
              3MC syndrome 2 3
              Alazami-Yuan Syndrome 3
              Arroyo Garcia Cimadevilla Syndrome 0
              Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects 1
              Growth Mental Deficiency Syndrome of Myhre 3
              Ichthyosis and Male Hypogonadism 0
              Lynch Lee Murday syndrome 0
              McDonough Syndrome 0
              Otofacioosseous-Gonadal Syndrome 0
              Singh Chhaparwal Dhanda Syndrome 0
              Skeletal Defects, Genital Hypoplasia, And Mental Retardation 1
              Testicular Anomalies with or without Congenital Heart Disease 1
              Torticollis Keloids Cryptorchidism Renal Dysplasia 0
              Urioste Martinez-Frias Syndrome 0
              frontonasal dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Urogenital Diseases 6456
        reproductive system disease 4002
          male reproductive system disease 2565
            testicular disease 179
              cryptorchidism 57
                3MC syndrome 2 3
                Alazami-Yuan Syndrome 3
                Arroyo Garcia Cimadevilla Syndrome 0
                Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects 1
                Growth Mental Deficiency Syndrome of Myhre 3
                Ichthyosis and Male Hypogonadism 0
                Lynch Lee Murday syndrome 0
                McDonough Syndrome 0
                Otofacioosseous-Gonadal Syndrome 0
                Singh Chhaparwal Dhanda Syndrome 0
                Skeletal Defects, Genital Hypoplasia, And Mental Retardation 1
                Testicular Anomalies with or without Congenital Heart Disease 1
                Torticollis Keloids Cryptorchidism Renal Dysplasia 0
                Urioste Martinez-Frias Syndrome 0
                frontonasal dysplasia 2 1
paths to the root