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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:Phelan-McDermid syndrome
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Accession:DOID:0080354 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. (DO)
Synonyms:exact_synonym: 22q13 deletion syndrome;   22q13.3 deletion syndrome;   PHMDS;   chromosome 22q13.3 deletion syndrome;   monosomy 22q13;   monosomy 22q13 syndrome;   telomeric 22q13 monosomy syndrome
 broad_synonym: SHANK3-RELATED CONDITION;   SHANK3-related disorder
 primary_id: MESH:C536801
 alt_id: OMIM:606232
 xref: GARD:10130;   NCI:C157124;   ORDO:48652


show annotations for term's descendants           Sort by:
Phelan-McDermid syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acr acrosin ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,636,581...120,644,474
Ensembl chr 7:120,638,321...120,644,474 		JBrowse link
G Adm2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,393,179...120,394,965
Ensembl chr 7:120,393,179...120,396,331 		JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458 		JBrowse link
G Arhgap8 Rho GTPase activating protein 8 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,842,223...115,902,094
Ensembl chr 7:115,850,654...115,902,093 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G Atxn10 ataxin 10 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,441,768...116,565,093
Ensembl chr 7:116,441,613...116,565,087 		JBrowse link
G Bik BCL2-interacting killer ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:114,672,277...114,691,296
Ensembl chr 7:114,672,277...114,691,296 		JBrowse link
G Brd1 bromodomain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:119,774,187...119,822,032
Ensembl chr 7:119,774,188...119,822,031 		JBrowse link
G Cdpf1 cysteine rich, DPF motif domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,896,672...116,905,438
Ensembl chr 7:116,901,003...116,905,406 		JBrowse link
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164 		JBrowse link
G Cerk ceramide kinase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:117,225,855...117,269,436
Ensembl chr 7:117,225,855...117,268,759 		JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461 		JBrowse link
G Cimap1b ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,444,232...120,447,294
Ensembl chr 7:120,444,232...120,446,749 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar PMID:25741868 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404 		JBrowse link
G Creld2 cysteine-rich with EGF-like domains 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:119,909,626...119,916,556
Ensembl chr 7:119,909,633...119,916,543 		JBrowse link
G Dennd6b DENN domain containing 6B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,261,679...120,273,667
Ensembl chr 7:120,261,679...120,273,494 		JBrowse link
G Efcab6 EF-hand calcium binding domain 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,018,971...115,200,121
Ensembl chr 7:115,019,010...115,206,092 		JBrowse link
G Fam118a family with sequence similarity 118, member A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,152,448...116,178,976
Ensembl chr 7:116,146,716...116,178,971 		JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075 		JBrowse link
G Gramd4 GRAM domain containing 4 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:117,150,398...117,224,056
Ensembl chr 7:117,150,374...117,224,053 		JBrowse link
G Gtse1 G-2 and S-phase expressed 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,949,997...116,966,826
Ensembl chr 7:116,950,053...116,966,806 		JBrowse link
G Hdac10 histone deacetylase 10 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,199,126...120,205,850
Ensembl chr 7:120,199,129...120,204,228 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:18948358 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Kiaa0930 KIAA0930 homolog ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,067,974...116,107,678
Ensembl chr 7:116,071,447...116,107,727 		JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,452,081...120,455,737
Ensembl chr 7:120,453,932...120,455,737 		JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823 		JBrowse link
G Mapk11 mitogen-activated protein kinase 11 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,218,471...120,225,488
Ensembl chr 7:120,218,478...120,225,395 		JBrowse link
G Mapk12 mitogen-activated protein kinase 12 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,206,005...120,216,711
Ensembl chr 7:120,206,271...120,216,664 		JBrowse link
G Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,526,732...120,536,982
Ensembl chr 7:120,526,732...120,536,982 		JBrowse link
G Mcat malonyl-CoA-acyl carrier protein transacylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:114,693,612...114,705,677
Ensembl chr 7:114,693,612...114,704,542 		JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537 		JBrowse link
G Mir1249 microRNA 1249 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,075,593...116,075,712
Ensembl chr 7:116,075,593...116,075,712 		JBrowse link
G Mirlet7b microRNA let-7b ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,804,186...116,804,270
Ensembl chr 7:116,804,186...116,804,270 		JBrowse link
G Mirlet7bhg Mirlet7b host gene ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar
G Mirlet7c2 microRNA let7c-2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,803,771...116,803,865
Ensembl chr 7:116,803,771...116,803,865 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049 		JBrowse link
G Mov10l1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765 		JBrowse link
G Mpped1 metallophosphoesterase domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:114,932,221...115,011,797
Ensembl chr 7:114,944,764...115,011,787 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938 		JBrowse link
G Nup50 nucleoporin 50 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,047,960...116,065,231
Ensembl chr 7:116,048,021...116,066,905 		JBrowse link
G Panx2 pannexin 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361 		JBrowse link
G Parvb parvin, beta ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,360,254...115,445,767
Ensembl chr 7:115,360,261...115,445,766 		JBrowse link
G Parvg parvin, gamma ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,456,183...115,475,707
Ensembl chr 7:115,456,209...115,475,104 		JBrowse link
G Phf21b PHD finger protein 21B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,913,704...115,984,215
Ensembl chr 7:115,915,412...115,984,215 		JBrowse link
G Pim3 Pim-3 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:119,953,377...119,956,587
Ensembl chr 7:119,953,175...119,956,587 		JBrowse link
G Pkdrej polycystin family receptor for egg jelly ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,909,094...116,915,468
Ensembl chr 7:116,909,094...116,915,468 		JBrowse link
G Plxnb2 plexin B2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,232,276...120,258,385
Ensembl chr 7:120,232,331...120,258,330 		JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077 		JBrowse link
G Pnpla5 patatin-like phospholipase domain containing 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,246,050...115,257,039
Ensembl chr 7:115,246,050...115,257,039 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Ppp6r2 protein phosphatase 6, regulatory subunit 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395 		JBrowse link
G Prr5 proline rich 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,795,351...115,837,880
Ensembl chr 7:115,813,954...115,834,834 		JBrowse link
G Rabl2 RAB, member of RAS oncogene family like 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,652,175...120,660,906
Ensembl chr 7:120,652,175...120,660,783 		JBrowse link
G Ribc2 RIB43A domain with coiled-coils 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,242,863...116,257,868
Ensembl chr 7:116,242,863...116,257,863 		JBrowse link
G Rtl6 retrotransposon Gag like 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,684,812...115,689,897
Ensembl chr 7:115,684,739...115,690,052 		JBrowse link
G Samm50 SAMM50 sorting and assembly machinery component ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,317,472...115,341,682
Ensembl chr 7:115,317,404...115,341,682 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902 		JBrowse link
G Scube1 signal peptide, CUB domain and EGF like domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:114,759,016...114,880,995
Ensembl chr 7:114,759,010...114,880,940 		JBrowse link
G Selenoo selenoprotein O ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,167,913...120,178,806
Ensembl chr 7:120,167,913...120,178,805 		JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO
IMP
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:606232
ClinVar Annotator: match by term: Phelan-McDermid syndrome | ClinVar Annotator: match by term: SHANK3-related condition		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:16284256 PMID:17173049 PMID:17999366 PMID:18615476 PMID:20301377 More... RGD:41404704 NCBI chr 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374 		JBrowse link
G Shank3em1Bux SH3 and multiple ankyrin repeat domains 3; ZFN induced mutant 1, Bux IMP RGD PMID:28139198 RGD:41404704
G Shisal1 shisa like 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,506,947...115,611,518
Ensembl chr 7:115,509,035...115,575,449 		JBrowse link
G Smc1b structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,180,987...116,242,778
Ensembl chr 7:116,180,987...116,242,744 		JBrowse link
G Sult4a1 sulfotransferase family 4A, member 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:115,216,066...115,240,156
Ensembl chr 7:115,216,066...115,240,085 		JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973 		JBrowse link
G Tafa5 TAFA chemokine like family member 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:118,613,731...118,835,016
Ensembl chr 7:118,613,889...118,834,353 		JBrowse link
G Tbc1d22a TBC1 domain family, member 22a ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:117,292,481...117,577,473
Ensembl chr 7:117,292,631...117,577,483 		JBrowse link
G Tcf20 transcription factor 20 ISS OMIM:606232 MouseDO NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839 		JBrowse link
G Trabd TraB domain containing ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,155,042...120,166,015
Ensembl chr 7:120,155,042...120,166,015 		JBrowse link
G Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,969,750...116,987,704
Ensembl chr 7:116,969,756...116,986,355 		JBrowse link
G Tspo translocator protein ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450 		JBrowse link
G Ttc38 tetratricopeptide repeat domain 38 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,925,273...116,948,616
Ensembl chr 7:116,925,257...116,948,611 		JBrowse link
G Ttll1 TTL family tubulin polyglutamylase complex subunit L1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:114,619,509...114,648,850
Ensembl chr 7:114,619,508...114,648,761 		JBrowse link
G Ttll12 tubulin tyrosine ligase like 12 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:114,731,890...114,751,237
Ensembl chr 7:114,731,892...114,751,356 		JBrowse link
G Ttll8 tubulin tyrosine ligase like 8 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,000,638...120,046,556
Ensembl chr 7:120,001,794...120,045,075 		JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
G Upk3a uroplakin 3A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,128,981...116,139,950
Ensembl chr 7:116,134,874...116,139,948 		JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:116,634,817...116,679,459
Ensembl chr 7:116,634,814...116,679,581 		JBrowse link
G Zbed4 zinc finger, BED-type containing 4 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 7:119,846,374...119,883,495
Ensembl chr 7:119,843,169...119,883,899 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      chromosomal deletion syndrome 1495
        Phelan-McDermid syndrome 82
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13342
      Pathologic Processes 7990
        Chromosome Aberrations 2539
          Aneuploidy 1833
            Monosomy 1557
              Chromosome Deletion 1557
                chromosomal deletion syndrome 1495
                  Phelan-McDermid syndrome 82
paths to the root